A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.
A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.
A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress.
An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY.
The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.
Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE).
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance.
Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies.
A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.
The lower right and left chambers of the heart. The right ventricle pumps venous BLOOD into the LUNGS and the left ventricle pumps oxygenated blood into the systemic arterial circulation.
This structure includes the thin muscular atrial septum between the two HEART ATRIA, and the thick muscular ventricular septum between the two HEART VENTRICLES.
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.
Contractile activity of the MYOCARDIUM.
Striated muscle cells found in the heart. They are derived from cardiac myoblasts (MYOBLASTS, CARDIAC).
The hollow, muscular organ that maintains the circulation of the blood.
The amount of BLOOD pumped out of the HEART per beat, not to be confused with cardiac output (volume/time). It is calculated as the difference between the end-diastolic volume and the end-systolic volume.
Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)
Myosin type II isoforms found in cardiac muscle.
The period shortly before, during, and immediately after giving birth.
Measurement of intracardiac blood flow using an M-mode and/or two-dimensional (2-D) echocardiogram while simultaneously recording the spectrum of the audible Doppler signal (e.g., velocity, direction, amplitude, intensity, timing) reflected from the moving column of red blood cells.
Isoforms of MYOSIN TYPE II, specifically found in the ventricular muscle of the HEART. Defects in the genes encoding ventricular myosins result in FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.
Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.
An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation).
The repeating contractile units of the MYOFIBRIL, delimited by Z bands along its length.
A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION).
The larger subunits of MYOSINS. The heavy chains have a molecular weight of about 230 kDa and each heavy chain is usually associated with a dissimilar pair of MYOSIN LIGHT CHAINS. The heavy chains possess actin-binding and ATPase activity.
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
The innermost layer of the heart, comprised of endothelial cells.
Members of the armadillo family of proteins that are found in DESMOSOMES and interact with various proteins including desmocadherins; DESMOPLAKIN; ACTIN FILAMENTS; and KERATINS.
The transference of a heart from one human or animal to another.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis.
The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle.
One of the three polypeptide chains that make up the TROPONIN complex. It is a cardiac-specific protein that binds to TROPOMYOSIN. It is released from damaged or injured heart muscle cells (MYOCYTES, CARDIAC). Defects in the gene encoding troponin T result in FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.
The movement and the forces involved in the movement of the blood through the CARDIOVASCULAR SYSTEM.
Regulation of the rate of contraction of the heart muscles by an artificial pacemaker.
Post-systolic relaxation of the HEART, especially the HEART VENTRICLES.
Pathological conditions involving the HEART including its structural and functional abnormalities.
Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans.
A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.
Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES.
Implantable devices which continuously monitor the electrical activity of the heart and automatically detect and terminate ventricular tachycardia (TACHYCARDIA, VENTRICULAR) and VENTRICULAR FIBRILLATION. They consist of an impulse generator, batteries, and electrodes.
The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.
A type of imaging technique used primarily in the field of cardiology. By coordinating the fast gradient-echo MRI sequence with retrospective ECG-gating, numerous short time frames evenly spaced in the cardiac cycle are produced. These images are laced together in a cinematic display so that wall motion of the ventricles, valve motion, and blood flow patterns in the heart and great vessels can be visualized.
A CALCIUM-dependent adhesion molecule of DESMOSOMES that also plays a role in embryonic STEM CELL proliferation.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Period of contraction of the HEART, especially of the HEART VENTRICLES.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Procedures in which placement of CARDIAC CATHETERS is performed for therapeutic or diagnostic procedures.
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.
The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
An intermediate filament protein found predominantly in smooth, skeletal, and cardiac muscle cells. Localized at the Z line. MW 50,000 to 55,000 is species dependent.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
A condition in which HEART VENTRICLES exhibit impaired function.
Drugs that bind to but do not activate beta-adrenergic receptors thereby blocking the actions of beta-adrenergic agonists. Adrenergic beta-antagonists are used for treatment of hypertension, cardiac arrhythmias, angina pectoris, glaucoma, migraine headaches, and anxiety.
The valve between the left atrium and left ventricle of the heart.
Examinations used to diagnose and treat heart conditions.
Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.
Removal of tissue by vaporization, abrasion, or destruction. Methods used include heating tissue by hot liquids or microwave thermal heating, freezing (CRYOABLATION), chemical ablation, and photoablation with LASERS.
A guanidine analog with specific affinity for tissues of the sympathetic nervous system and related tumors. The radiolabeled forms are used as antineoplastic agents and radioactive imaging agents. (Merck Index, 12th ed) MIBG serves as a neuron-blocking agent which has a strong affinity for, and retention in, the adrenal medulla and also inhibits ADP-ribosyltransferase.
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
Agents that have a strengthening effect on the heart or that can increase cardiac output. They may be CARDIAC GLYCOSIDES; SYMPATHOMIMETICS; or other drugs. They are used after MYOCARDIAL INFARCT; CARDIAC SURGICAL PROCEDURES; in SHOCK; or in congestive heart failure (HEART FAILURE).
Removal of tissue with electrical current delivered via electrodes positioned at the distal end of a catheter. Energy sources are commonly direct current (DC-shock) or alternating current at radiofrequencies (usually 750 kHz). The technique is used most often to ablate the AV junction and/or accessory pathways in order to interrupt AV conduction and produce AV block in the treatment of various tachyarrhythmias.
Elements of limited time intervals, contributing to particular results or situations.
Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.
In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)
Recording the locations and measurements of electrical activity in the EPICARDIUM by placing electrodes on the surface of the heart to analyze the patterns of activation and to locate arrhythmogenic sites.
A protein found in the thin filaments of muscle fibers. It inhibits contraction of the muscle unless its position is modified by TROPONIN.
Method in which prolonged electrocardiographic recordings are made on a portable tape recorder (Holter-type system) or solid-state device ("real-time" system), while the patient undergoes normal daily activities. It is useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall.
A giant elastic protein of molecular mass ranging from 2,993 kDa (cardiac), 3,300 kDa (psoas), to 3,700 kDa (soleus) having a kinase domain. The amino- terminal is involved in a Z line binding, and the carboxy-terminal region is bound to the myosin filament with an overlap between the counter-connectin filaments at the M line.
The long cylindrical contractile organelles of STRIATED MUSCLE cells composed of ACTIN FILAMENTS; MYOSIN filaments; and other proteins organized in arrays of repeating units called SARCOMERES .
The mitochondria of the myocardium.
A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles.
Methods to induce and measure electrical activities at specific sites in the heart to diagnose and treat problems with the heart's electrical system.
One of the three polypeptide chains that make up the TROPONIN complex. It inhibits F-actin-myosin interactions.
A diverse superfamily of proteins that function as translocating proteins. They share the common characteristics of being able to bind ACTINS and hydrolyze MgATP. Myosins generally consist of heavy chains which are involved in locomotion, and light chains which are involved in regulation. Within the structure of myosin heavy chain are three domains: the head, the neck and the tail. The head region of the heavy chain contains the actin binding domain and MgATPase domain which provides energy for locomotion. The neck region is involved in binding the light-chains. The tail region provides the anchoring point that maintains the position of the heavy chain. The superfamily of myosins is organized into structural classes based upon the type and arrangement of the subunits they contain.
Echocardiography applying the Doppler effect, with the superposition of flow information as colors on a gray scale in a real-time image.
Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia.
A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS.
Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
The circulation of blood through the CORONARY VESSELS of the HEART.
AMINO ALCOHOLS containing the propanolamine (NH2CH2CHOHCH2) group and its derivatives.
Small pumps, often implantable, designed for temporarily assisting the heart, usually the LEFT VENTRICLE, to pump blood. They consist of a pumping chamber and a power source, which may be partially or totally external to the body and activated by electromagnetic motors.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A device designed to stimulate, by electric impulses, contraction of the heart muscles. It may be temporary (external) or permanent (internal or internal-external).
A PEPTIDE that is secreted by the BRAIN and the HEART ATRIA, stored mainly in cardiac ventricular MYOCARDIUM. It can cause NATRIURESIS; DIURESIS; VASODILATION; and inhibits secretion of RENIN and ALDOSTERONE. It improves heart function. It contains 32 AMINO ACIDS.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return.
Iodobenzenes are organic compounds containing an iodine atom bonded to a benzene ring, which have been used in the medical field as contrast agents for imaging studies.
A group of desmosomal cadherins with cytoplasmic tails that are divergent from those of classical CADHERINS. Their intracytoplasmic domains bind PLAKOGLOBIN; PLAKOPHILINS; and DESMOPLAKINS.
Biochemical identification of mutational changes in a nucleotide sequence.
A large class of structurally-related proteins that contain one or more LIM zinc finger domains. Many of the proteins in this class are involved in intracellular signaling processes and mediate their effects via LIM domain protein-protein interactions. The name LIM is derived from the first three proteins in which the motif was found: LIN-11, Isl1 and Mec-3.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A selective adrenergic beta-1 blocking agent that is commonly used to treat ANGINA PECTORIS; HYPERTENSION; and CARDIAC ARRHYTHMIAS.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart.
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
A subclass of beta-adrenergic receptors (RECEPTORS, ADRENERGIC, BETA). The adrenergic beta-1 receptors are equally sensitive to EPINEPHRINE and NOREPINEPHRINE and bind the agonist DOBUTAMINE and the antagonist METOPROLOL with high affinity. They are found in the HEART, juxtaglomerular cells, and in the central and peripheral nervous systems.
A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The pressure within a CARDIAC VENTRICLE. Ventricular pressure waveforms can be measured in the beating heart by catheterization or estimated using imaging techniques (e.g., DOPPLER ECHOCARDIOGRAPHY). The information is useful in evaluating the function of the MYOCARDIUM; CARDIAC VALVES; and PERICARDIUM, particularly with simultaneous measurement of other (e.g., aortic or atrial) pressures.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
Benzo-indoles similar to CARBOLINES which are pyrido-indoles. In plants, carbazoles are derived from indole and form some of the INDOLE ALKALOIDS.
Controlled physical activity which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used.
A catecholamine derivative with specificity for BETA-1 ADRENERGIC RECEPTORS. It is commonly used as a cardiotonic agent after CARDIAC SURGERY and during DOBUTAMINE STRESS ECHOCARDIOGRAPHY.
A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.
A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
An individual having different alleles at one or more loci regarding a specific character.
Antineoplastic antibiotic obtained from Streptomyces peucetius. It is a hydroxy derivative of DAUNORUBICIN.
Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY.
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Agents that affect the rate or intensity of cardiac contraction, blood vessel diameter, or blood volume.
The muscular structure separating the right and the left lower chambers (HEART VENTRICLES) of the heart. The ventricular septum consists of a very small membranous portion just beneath the AORTIC VALVE, and a large thick muscular portion consisting of three sections including the inlet septum, the trabecular septum, and the outlet septum.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
Imaging of a ventricle of the heart after the injection of a radioactive contrast medium. The technique is less invasive than cardiac catheterization and is used to assess ventricular function.
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
A group of muscle diseases associated with abnormal mitochondria function.
Calcium-transporting ATPases that catalyze the active transport of CALCIUM into the SARCOPLASMIC RETICULUM vesicles from the CYTOPLASM. They are primarily found in MUSCLE CELLS and play a role in the relaxation of MUSCLES.
Chemical substances, produced by microorganisms, inhibiting or preventing the proliferation of neoplasms.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.
A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture.
A potent natriuretic and vasodilatory peptide or mixture of different-sized low molecular weight PEPTIDES derived from a common precursor and secreted mainly by the HEART ATRIUM. All these peptides share a sequence of about 20 AMINO ACIDS.
Activities or games, usually involving physical effort or skill. Reasons for engagement in sports include pleasure, competition, and/or financial reward.
Agents used for the treatment or prevention of cardiac arrhythmias. They may affect the polarization-repolarization phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibers. Anti-arrhythmia agents are often classed into four main groups according to their mechanism of action: sodium channel blockade, beta-adrenergic blockade, repolarization prolongation, or calcium channel blockade.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
The agent of South American trypanosomiasis or CHAGAS DISEASE. Its vertebrate hosts are man and various domestic and wild animals. Insects of several species are vectors.
A species of ENTEROVIRUS infecting humans and containing 36 serotypes. It is comprised of all the echoviruses and a few coxsackieviruses, including all of those previously named coxsackievirus B.
A complex of gadolinium with a chelating agent, diethylenetriamine penta-acetic acid (DTPA see PENTETIC ACID), that is given to enhance the image in cranial and spinal MRIs. (From Martindale, The Extra Pharmacopoeia, 30th ed, p706)
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction.
A genus of the family PICORNAVIRIDAE whose members preferentially inhabit the intestinal tract of a variety of hosts. The genus contains many species. Newly described members of human enteroviruses are assigned continuous numbers with the species designated "human enterovirus".
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
Substances used to allow enhanced visualization of tissues.
Conical muscular projections from the walls of the cardiac ventricles, attached to the cusps of the atrioventricular valves by the chordae tendineae.
Radiography of the vascular system of the heart muscle after injection of a contrast medium.
Recording of regional electrophysiological information by analysis of surface potentials to give a complete picture of the effects of the currents from the heart on the body surface. It has been applied to the diagnosis of old inferior myocardial infarction, localization of the bypass pathway in Wolff-Parkinson-White syndrome, recognition of ventricular hypertrophy, estimation of the size of a myocardial infarct, and the effects of different interventions designed to reduce infarct size. The limiting factor at present is the complexity of the recording and analysis, which requires 100 or more electrodes, sophisticated instrumentation, and dedicated personnel. (Braunwald, Heart Disease, 4th ed)
A class of statistical procedures for estimating the survival function (function of time, starting with a population 100% well at a given time and providing the percentage of the population still well at later times). The survival analysis is then used for making inferences about the effects of treatments, prognostic factors, exposures, and other covariates on the function.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Graphic registration of the heart sounds picked up as vibrations and transformed by a piezoelectric crystal microphone into a varying electrical output according to the stresses imposed by the sound waves. The electrical output is amplified by a stethograph amplifier and recorded by a device incorporated into the electrocardiograph or by a multichannel recording machine.
Transport proteins that carry specific substances in the blood or across cell membranes.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Radionuclide ventriculography where scintigraphic data is acquired during repeated cardiac cycles at specific times in the cycle, using an electrocardiographic synchronizer or gating device. Analysis of right ventricular function is difficult with this technique; that is best evaluated by first-pass ventriculography (VENTRICULOGRAPHY, FIRST-PASS).
Radiography of the heart and great vessels after injection of a contrast medium.
A multi-functional catenin that is highly homologous to BETA CATENIN. Gamma catenin binds CADHERINS and helps link their cytoplasmic tails to ACTIN in the CYTOSKELETON via ALPHA CATENIN. It is also found in DESMOSOMES where it mediates the link between DESMOSOMAL CADHERINS and DESMOPLAKIN.
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
Gadolinium. An element of the rare earth family of metals. It has the atomic symbol Gd, atomic number 64, and atomic weight 157.25. Its oxide is used in the control rods of some nuclear reactors.
The hemodynamic and electrophysiological action of the right HEART VENTRICLE.
The chambers of the heart, to which the BLOOD returns from the circulation.
C57BL mice are a commonly used strain of laboratory mice that are inbred to produce consistent and predictable results in scientific research.
A characteristic symptom complex.
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
The proportion of survivors in a group, e.g., of patients, studied and followed over a period, or the proportion of persons in a specified group alive at the beginning of a time interval who survive to the end of the interval. It is often studied using life table methods.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)
An antianginal and class III antiarrhythmic drug. It increases the duration of ventricular and atrial muscle action by inhibiting POTASSIUM CHANNELS and VOLTAGE-GATED SODIUM CHANNELS. There is a resulting decrease in heart rate and in vascular resistance.
A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in ALCOHOLIC BEVERAGES.
A method of recording heart motion and internal structures by combining ultrasonic imaging with exercise testing (EXERCISE TEST) or pharmacologic stress.
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
One of the alpha crystallin subunits. In addition to being expressed in the lens (LENS, CRYSTALLINE), alpha-crystallin B chain has been found in a variety of tissues such as HEART; BRAIN; MUSCLE; and KIDNEY. Accumulation of the protein in the brain is associated with NEURODEGENERATIVE DISEASES such as CREUTZFELDT-JAKOB SYNDROME and ALEXANDER DISEASE.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
A conical fibro-serous sac surrounding the HEART and the roots of the great vessels (AORTA; VENAE CAVAE; PULMONARY ARTERY). Pericardium consists of two sacs: the outer fibrous pericardium and the inner serous pericardium. The latter consists of an outer parietal layer facing the fibrous pericardium, and an inner visceral layer (epicardium) resting next to the heart, and a pericardial cavity between these two layers.
The exercise capacity of an individual as measured by endurance (maximal exercise duration and/or maximal attained work load) during an EXERCISE TEST.
A family of RNA viruses that infect fungi and protozoa. There are three genera: TOTIVIRUS; GIARDIAVIRUS; and LEISHMANIAVIRUS.
A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases.
Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.
The measurement of an organ in volume, mass, or heaviness.
The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)
General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA).
One of two major pharmacologically defined classes of adrenergic receptors. The beta adrenergic receptors play an important role in regulating CARDIAC MUSCLE contraction, SMOOTH MUSCLE relaxation, and GLYCOGENOLYSIS.
A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products (Sies, Oxidative Stress, 1991, pxv-xvi).
The restoration of the sequential order of contraction and relaxation of the HEART ATRIA and HEART VENTRICLES by atrio-biventricular pacing.
A single-pass transmembrane glycoproteins that mediate CALCIUM-dependent CELL ADHESION and are core components of DESMOSOMES.
Agents that have a damaging effect on the HEART. Such damage can occur from ALKYLATING AGENTS; FREE RADICALS; or metabolites from OXIDATIVE STRESS and in some cases is countered by CARDIOTONIC AGENTS. Induction of LONG QT SYNDROME or TORSADES DE POINTES has been the reason for viewing some drugs as cardiotoxins.
The hemodynamic and electrophysiological action of the HEART VENTRICLES.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice. (1/152)

1. The heterogenic nature of familial hypertrophic cardiomyopathy (FHC) in humans suggests a link between the type of mutation and the nature of patho-physiological alterations in cardiac myocytes. Exactly how FHC-associated mutations in cardiac troponin T (cTnT) lead to impaired cardiac function is unclear. 2. We measured steady-state isometric force and ATPase activity in detergent-skinned cardiac fibre bundles from three transgenic (TG) mouse hearts in which 50, 92 and 6 % of the native cTnT was replaced by the wild type (WT) cTnT, R92Q mutant cTnT (R92Q) and the C-terminal deletion mutant of cTnT (cTnT(DEL)), respectively. 3. Normalized pCa-tension relationships of R92Q and cTnT(DEL) fibres demonstrated a significant increase in sensitivity to Ca2+ at short (2.0 microm) and long (2.3 microm) sarcomere lengths (SL). At short SL, the pCa50 values, representing the midpoint of the pCa-tension relationship, were 5.69 +/- 0.01, 5.96 +/- 0.01 and 5.81 +/- 0.01 for WT, R92Q and cTnT(DEL) fibres, respectively. At long SL, the pCa50 values were 5.81 +/- 0.01, 6.08 +/- 0.01 and 5.95 +/- 0.01 for WT, R92Q and cTnT(DEL) fibres, respectively. 4. The difference in pCa required for half-maximal activation (DeltapCa50) at short and long SL was 0.12 +/- 0.01 for the R92Q (92 %) TG fibres, which is significantly less than the previously reported DeltapCa50 value of 0.29 +/- 0.02 for R92Q (67 %) TG fibres. 5. At short SL, Ca2+-activated maximal tension in both R92Q and cTnT(DEL) fibres decreased significantly (24 and 21 %, respectively; P < 0.005), with no corresponding decrease in Ca2+-activated maximal ATPase activity. Therefore, at short SL, the tension cost in R92Q and cTnT(DEL) fibres increased by 35 and 29 %, respectively (P < 0.001). 6. The fibre bundles reconstituted with the recombinant mutant cTnT(DEL) protein developed only 37 % of the Ca2+-activated maximal force developed by recombinant WT cTnT reconstituted fibre bundles, with no apparent changes in Ca2+ sensitivity. 7. Our data indicate that an important mutation-linked effect on cardiac function is the result of an inefficient use of ATP at the myofilament level. Furthermore, the extent of the mutation-induced dysfunction depends not only on the nature of the mutation, but also on the concentration of the mutant protein in the sarcomere.  (+info)

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (2/152)

OBJECTIVES: The purpose of this study was to examine the genotype-phenotype relation with respect to penetrance, age and severity of expression, disease progression and prognosis in a recessively inherited arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: Naxos disease is a recessively inherited ARVC caused by a mutation in the gene encoding plakoglobin (cell adhesion protein) in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. METHODS: Twelve families with Naxos disease underwent cardiac and molecular genetic investigation. Serial cardiac assessment with annual resting 12-lead and 24-h ambulatory electrocardiogram (ECG) and two-dimensional echocardiography was performed during 1 to 16 years, median 7 +/- 6 years in all 78 surviving members. RESULTS: Twenty-eight surviving members were homozygous and 40 were heterozygous for the mutation. All adults who were homozygous (n = 26) fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years. In eight who were heterozygous, minor ECG or echocardiographic abnormalities were observed. Of the 26 subjects who were affected homozygotes, 92% showed ECG abnormalities, 92% ventricular arrhythmias, 100% right ventricular structural alterations and 27% left ventricular involvement. During follow-up (10 +/- 6 years), 16 (62%) developed structural progression, 12 (46%) arrhythmic events and 7 (27%) heart failure. The annual disease-related and sudden death mortality was 3% and 2.3%, respectively. CONCLUSIONS: Autosomal recessive ARVC caused by a mutation in plakoglobin was 100% penetrant by adolescence. Affected subjects who were homozygous experienced progressive disease with adverse prognosis. A minority of subjects who were heterozygous showed minor ECG/echocardiographic changes, but clinically significant disease did not develop.  (+info)

Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. (3/152)

Familial hypertrophic cardiomyopathy has been associated with several mutations in the gene encoding human cardiac troponin I (HCTnI). A missense mutation in the inhibitory region of TnI replaces an arginine residue at position 145 with a glycine and cosegregates with the disease. Results from several assays indicate that the inhibitory function of HCTnI(R145G) is significantly reduced. When HCTnI(R145G) was incorporated into whole troponin, Tn(R145G) (HCTnT small middle dotHCTnI(R145G) small middle dotHCTnC), only partial inhibition of the actin-tropomyosin-myosin ATPase activity was observed in the absence of Ca(2+) compared with wild type Tn (HCTnT small middle dotHCTnI small middle dotHCTnC). Maximal activation of actin-tropomyosin-myosin ATPase in the presence of Ca(2+) was also decreased in Tn(R145G) when compared with Tn. Using skinned cardiac muscle fibers, we determined that in comparison with the wild type complex 1) the complex containing HCTnI(R145G) only inhibited 84% of Ca(2+)-unregulated force, 2) the recovery of Ca(2+)-activated force was decreased, and 3) there was a significant increase in the Ca(2+) sensitivity of force development. Computer modeling of troponin C and I variables predicts that the primary defect in TnI caused by these mutations would lead to diastolic dysfunction. These results suggest that severe diastolic dysfunction and somewhat decreased contractility would be prominent clinical features and that hypertrophy could arise as a compensatory mechanism.  (+info)

Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain. (4/152)

BACKGROUND: To understand further the pathogenesis of familial hypertrophic cardiomyopathy, we determined how the cardiomyopathy induced by an Arg403-->Gln missense mutation in the alpha-myosin heavy chain (403) is affected by chronically enhancing sympathetic drive by mating the mice with those overexpressing G(s)alpha (G(s)alpha x403). METHODS AND RESULTS: Heart rate in 3-month-old conscious mice was elevated similarly (P<0.05) in mice overexpressing G(s)alpha (G(s)alpha mice; 746 +/- 14 bpm) and G(s)alpha x403 mice (718+/- 19 bpm) compared with littermate wild-type mice (WT; 623+/- 18 bpm) and 403 mice (594+/- 16 bpm). Left ventricular ejection fraction (LVEF), as determined by echocardiography, was enhanced in G(s)alpha x403 mice (88+/- 1%, P<0.001) compared with WT (69+/- 1%), 403 (75+/- 1%), and G(s)alpha (69 +/- 2%) mice. Isolated cardiomyocytes from G(s)alpha x403 mice also exhibited higher (P<0.001) baseline percent contraction (11.9+/- 0.5%) than WT (7.0+/- 0.5%), 403 (5.5+/- 0.5%), and G(s)alpha (7.8+/- 0.3%) cardiomyocytes. Relaxation of myocytes was impaired in 403 mice compared with WT but enhanced in G(s)alpha and normalized in G(s)alpha x403 mice. This was also observed in vivo. In vivo isoproterenol (0.1 microgram . kg(-1) . min(-1)) increased LVEF to maximal levels in G(s)alpha x403 and G(s)alpha, whereas in 403, the response was attenuated compared with WT. At 10 months of age, G(s)alpha x403 had significantly depressed LVEF (57 +/- 4%). Histopathological examination demonstrated that myocyte hypertrophy and fibrosis were already present in young G(s)alpha x403 mice and that old animals had severe cardiomyopathy. By 15 months of age, the survival of G(s)alpha x403 was 0% compared with 100% for WT, 71% for G(s)alpha, and 100% for 403 mice (P<0.05). CONCLUSIONS: These results show that the cardiomyopathy developed by G(s)alpha x403 mice is synergistic rather than additive, most likely owing to the elevated baseline function combined with enhanced responsiveness to sympathetic stimulation.  (+info)

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (5/152)

Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. To understand the mechanisms by which PRKAG2 defects cause disease, we defined novel mutations, characterized the associated cardiac histopathology, and studied the consequences of introducing these mutations into the yeast homologue of PRKAG2, Snf4. Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. Instead PRKAG2 mutations caused pronounced vacuole formation within myocytes. Several lines of evidence indicated these vacuoles were filled with glycogen-associated granules. Analyses of the effects of human PRKAG2 mutations on Snf1/Snf4 kinase function demonstrated constitutive activity, which could foster glycogen accumulation. Taken together, our data indicate that PRKAG2 mutations do not cause hypertrophic cardiomyopathy but rather lead to a novel myocardial metabolic storage disease, in which hypertrophy, ventricular pre-excitation and conduction system defects coexist.  (+info)

Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. (6/152)

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited disease of the sarcomere characterised clinically by myocardial hypertrophy and its consequences. Phenotypic expression is heterogeneous even within families with the same aetiological mutation and may be influenced by additional genetic factors. OBJECTIVE: To determine the influence of genetic polymorphisms of the renin-angiotensin-aldosterone system (RAAS) on ECG and two dimensional echocardiographic left ventricular hypertrophy (LVH) in genetically identical patients with HCM. PATIENTS AND METHODS: Polymorphisms of five RAAS components were determined in 26 gene carriers from a single family with HCM caused by a previously identified myosin binding protein C mutation. Genotypes associated with a higher activation status of the RAAS were labelled "pro-LVH genotypes". RESULTS: There was a non-biased distribution of pro-LVH genotypes in the gene carriers. Those without pro-LVH genotypes did not manifest cardiac hypertrophy whereas gene carriers with pro-LVH genotypes did (mean (SD) left ventricular muscle mass 190 (48) v 320 (113), p = 0.002; interventricular septal thickness 11.5 (2.0) v 16.4 (6.7), p = 0.01; pathological ECG 0% (0 of 10) v 63% (10 of 16), respectively). Multivariate analysis controlling for age, sex, and hypertension confirmed an independent association between the presence of pro-LVH polymorphisms and left ventricular mass. When each polymorphism was assessed individually, carriers of each pro-LVH genotype had a significantly greater left ventricular mass than those with no pro-LVH mutation; these associations, with the exception of cardiac chymase A AA polymorphism (p = 0.06), remained significant in multivariate analysis. CONCLUSION: Genetic polymorphisms of the RAAS influence penetrance and degree of LVH in 26 gene carriers from one family with HCM caused by a myosin binding protein C mutation.  (+info)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. (7/152)

Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in 9 sarcomeric protein genes. The most commonly affected is beta-myosin heavy chain (MYH7), where missense mutations cluster in the head and neck regions and directly affect motor function. Comparable mutations have not been described in the light meromyosin (LMM) region of the myosin rod, nor would these be expected to directly affect motor function. We studied 82 probands with HCM in whom no mutations had been found in MYH7 exons encoding the head and neck regions of myosin nor in the other frequently implicated disease genes. Primers were designed to amplify exons 24 to 40 of MYH7. These amplimers were subjected to temperature modulated heteroduplex analysis by denaturing high-performance liquid chromatography. An Ala1379Thr missense mutation in exon 30 segregated with disease in three families and was not present in 200 normal chromosomes. The mutation occurred on two haplotypes, indicating that it was not a polymorphism linked with another disease-causing mutation. The position of this residue within the LMM region of myosin suggests that it may be important for thick filament assembly or for accessory protein binding. A further missense mutation in exon 37, Ser1776Gly, segregated with disease in a single family and was absent from 400 population-matched control chromosomes. Because the Ser1776 residue occupies a core position in the myosin rod at which the substitution of glycine is extremely energetically unfavorable, it is likely to disrupt the coiled-coil structure. We conclude that mutation of the LMM can cause HCM and that such mutations may act through novel mechanisms of disease pathogenesis involving myosin filament assembly or interaction with thick filament binding proteins.  (+info)

Mutation of the myosin converter domain alters cross-bridge elasticity. (8/152)

Elastic distortion of a structural element of the actomyosin complex is fundamental to the ability of myosin to generate motile forces. An elastic element allows strain to develop within the actomyosin complex (cross-bridge) before movement. Relief of this strain then drives filament sliding, or more generally, movement of a cargo. Even with the known crystal structure of the myosin head, however, the structural element of the actomyosin complex in which elastic distortion occurs remained unclear. To assign functional relevance to various structural elements of the myosin head, e.g., to identify the elastic element within the cross-bridge, we studied mechanical properties of muscle fibers from patients with familial hypertrophic cardiomyopathy with point mutations in the head domain of the beta-myosin heavy chain. We found that the Arg-719 --> Trp (Arg719Trp) mutation, which is located in the converter domain of the myosin head fragment, causes an increase in force generation and fiber stiffness under isometric conditions by 48-59%. Under rigor and relaxing conditions, fiber stiffness was 45-47% higher than in control fibers. Yet, kinetics of active cross-bridge cycling were unchanged. These findings, especially the increase in fiber stiffness under rigor conditions, indicate that cross-bridges with the Arg719Trp mutation are more resistant to elastic distortion. The data presented here strongly suggest that the converter domain that forms the junction between the catalytic and the light-chain-binding domain of the myosin head is not only essential for elastic distortion of the cross-bridge, but that the main elastic distortion may even occur within the converter domain itself.  (+info)

Dilated cardiomyopathy is a medical condition characterized by the enlargement and weakening of the heart muscle, specifically the ventricles, which are the lower chambers of the heart responsible for pumping blood out to the rest of the body. This enlargement causes the heart to become weakened and unable to pump blood efficiently, leading to symptoms such as shortness of breath, fatigue, and swelling in the legs and ankles. Dilated cardiomyopathy can be caused by a variety of factors, including genetics, infections, alcohol and drug abuse, and certain medications. It can also be a complication of other heart conditions, such as hypertension or coronary artery disease. Diagnosis of dilated cardiomyopathy typically involves a physical examination, electrocardiogram (ECG), echocardiogram, and other imaging tests. Treatment may include medications to improve heart function, lifestyle changes such as a heart-healthy diet and exercise, and in some cases, surgery or heart transplantation.

Hypertrophic cardiomyopathy (HCM) is a type of heart disease characterized by the thickening of the heart muscle, particularly the walls of the left ventricle. This thickening can obstruct blood flow through the heart, leading to symptoms such as shortness of breath, chest pain, and fatigue. HCM can be caused by genetic mutations or be acquired as a result of other medical conditions or environmental factors. It is a common condition, affecting an estimated 1 in 500 people worldwide. Treatment for HCM may include medications, lifestyle changes, and in some cases, surgery or other procedures to improve blood flow and reduce the risk of complications.

Cardiomyopathies are a group of heart diseases that affect the heart muscle (myocardium). These diseases can cause the heart to become enlarged, thickened, or rigid, which can lead to problems with the heart's ability to pump blood effectively. There are several different types of cardiomyopathies, including: 1. Hypertrophic cardiomyopathy: This is a condition in which the heart muscle becomes abnormally thick, which can make it difficult for the heart to pump blood. 2. Dilated cardiomyopathy: This is a condition in which the heart muscle becomes weakened and enlarged, which can cause the heart to pump blood less effectively. 3. Arrhythmogenic right ventricular cardiomyopathy (ARVC): This is a condition in which the heart muscle in the right ventricle becomes abnormal and can cause irregular heart rhythms. 4. Non-ischemic dilated cardiomyopathy: This is a type of dilated cardiomyopathy that is not caused by a lack of blood flow to the heart muscle. 5. Idiopathic left ventricular hypertrophy: This is a condition in which the left ventricle of the heart becomes abnormally thick, which can make it difficult for the heart to pump blood. Cardiomyopathies can be inherited or acquired, and they can range from mild to severe. Treatment for cardiomyopathies depends on the specific type and severity of the condition, and may include medications, lifestyle changes, and in some cases, surgery.

Cardiomyopathy, restrictive is a type of heart disease that affects the heart's ability to pump blood effectively. In restrictive cardiomyopathy, the heart muscle becomes stiff and thickened, making it difficult for the heart to relax and fill with blood. This can lead to a decrease in the amount of blood that the heart is able to pump out to the rest of the body, which can cause symptoms such as shortness of breath, fatigue, and swelling in the legs and ankles. There are several different types of restrictive cardiomyopathy, including infiltrative cardiomyopathy, fibrotic cardiomyopathy, and endomyocardial fibrosis. The exact cause of restrictive cardiomyopathy is often unknown, but it can be caused by a variety of factors, including viral infections, exposure to toxins, and certain genetic conditions. Treatment for restrictive cardiomyopathy typically involves managing symptoms and addressing any underlying causes of the condition. In some cases, medications or surgery may be necessary to improve heart function and prevent complications.

Takotsubo Cardiomyopathy, also known as stress-induced cardiomyopathy or broken heart syndrome, is a rare but potentially life-threatening condition that affects the heart muscle. It is characterized by a sudden and temporary weakening of the heart's ability to pump blood, often triggered by a severe emotional or physical stressor. The condition is named after the Japanese word "takotsubo," which means octopus pot, because the shape of the heart's left ventricle during an episode of Takotsubo Cardiomyopathy resembles the shape of an octopus pot. Symptoms of Takotsubo Cardiomyopathy can include chest pain, shortness of breath, rapid heartbeat, and fatigue. The condition is usually diagnosed through an electrocardiogram (ECG), echocardiogram, and other imaging tests. Treatment for Takotsubo Cardiomyopathy typically involves medications to manage symptoms and prevent complications, such as heart failure or arrhythmias. In some cases, hospitalization may be necessary. The condition usually resolves on its own within a few weeks to months, although some people may experience long-term changes in their heart function.

Cardiomyopathy, Hypertrophic, Familial is a type of heart disease that is caused by genetic mutations that affect the structure and function of the heart muscle. It is characterized by the thickening of the heart muscle, particularly in the walls of the left ventricle, which is the main pumping chamber of the heart. This thickening can lead to a decrease in the heart's ability to pump blood effectively, which can cause symptoms such as shortness of breath, chest pain, and fatigue. Familial hypertrophic cardiomyopathy is an inherited form of the disease, meaning that it is passed down from parents to their children through their genes. It is estimated that up to 1 in 500 people worldwide may have this condition, and it is more common in males than females. While the disease can be severe and life-threatening in some cases, many people with familial hypertrophic cardiomyopathy are able to lead normal, active lives with appropriate medical care and management.

Chagas cardiomyopathy is a type of heart disease caused by the Trypanosoma cruzi parasite, which is commonly transmitted to humans through the bite of infected triatomine bugs, also known as "kissing bugs." The parasite infects the heart muscle and can cause inflammation, scarring, and damage to the heart over time. This can lead to a variety of symptoms, including chest pain, shortness of breath, fatigue, and swelling in the legs and feet. In severe cases, Chagas cardiomyopathy can lead to heart failure, arrhythmias, and even sudden death. The disease is most common in Latin America, but it can also occur in other parts of the world where the parasite is present.

Cardiomyopathy, alcoholic, is a type of heart disease that occurs as a result of long-term heavy alcohol consumption. It is characterized by the weakening and thickening of the heart muscle, which can lead to reduced heart function and an increased risk of heart failure. Alcohol can damage the heart muscle in several ways, including by causing inflammation, disrupting the normal electrical activity of the heart, and interfering with the body's ability to repair damaged tissue. Over time, these effects can lead to the development of alcoholic cardiomyopathy. Symptoms of alcoholic cardiomyopathy may include shortness of breath, fatigue, swelling in the legs and ankles, and chest pain. Treatment typically involves stopping alcohol consumption, addressing any underlying medical conditions, and making lifestyle changes such as eating a healthy diet and getting regular exercise. In some cases, medications or surgery may also be necessary to manage symptoms and prevent complications.

Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a genetic heart disorder that affects the right ventricle of the heart. It is characterized by the replacement of healthy heart muscle with fibrous scar tissue, which can lead to abnormal heart rhythms and heart failure. ARVD is often diagnosed in young adults and children, and it can be life-threatening if not treated. The exact cause of ARVD is not fully understood, but it is believed to be related to mutations in certain genes that are involved in the development and maintenance of heart muscle. Treatment for ARVD typically involves medications to control abnormal heart rhythms and lifestyle changes to reduce the risk of sudden cardiac death. In some cases, surgery may be necessary to remove damaged heart muscle or implant a device to regulate the heart's rhythm.

Diabetic cardiomyopathy is a type of heart disease that occurs in people with diabetes. It is characterized by changes in the structure and function of the heart muscle, which can lead to heart failure. The exact cause of diabetic cardiomyopathy is not fully understood, but it is thought to be related to the long-term effects of high blood sugar levels on the heart. Other risk factors for diabetic cardiomyopathy include high blood pressure, high cholesterol, and smoking. Treatment for diabetic cardiomyopathy typically involves managing blood sugar levels, blood pressure, and cholesterol, as well as medications to improve heart function and prevent further damage to the heart.

Myocarditis is an inflammation of the heart muscle (myocardium) that can be caused by a viral or bacterial infection, autoimmune disorders, or other factors. It can lead to swelling and damage to the heart muscle, which can affect its ability to pump blood effectively. Symptoms of myocarditis can include chest pain, shortness of breath, fatigue, and an irregular heartbeat. Treatment for myocarditis depends on the underlying cause and may include medications, rest, and lifestyle changes. In severe cases, hospitalization and supportive care may be necessary. Myocarditis can be a serious condition and can lead to complications such as heart failure, arrhythmias, and sudden cardiac death.

Ventricular dysfunction, left, is a medical condition in which the left ventricle of the heart is unable to pump blood efficiently. The left ventricle is responsible for pumping oxygen-rich blood from the heart to the rest of the body. When it is not functioning properly, it can lead to a variety of symptoms, including shortness of breath, fatigue, and chest pain. There are several causes of left ventricular dysfunction, including heart attacks, high blood pressure, coronary artery disease, and heart valve problems. Treatment for left ventricular dysfunction depends on the underlying cause and may include medications, lifestyle changes, and in some cases, surgery. Left ventricular dysfunction can be a serious condition and requires prompt medical attention.

Heart failure, also known as congestive heart failure, is a medical condition in which the heart is unable to pump enough blood to meet the body's needs. This can lead to a buildup of fluid in the lungs, liver, and other organs, causing symptoms such as shortness of breath, fatigue, and swelling in the legs and ankles. Heart failure can be caused by a variety of factors, including damage to the heart muscle from a heart attack, high blood pressure, or long-term damage from conditions such as diabetes or coronary artery disease. It can also be caused by certain genetic disorders or infections. Treatment for heart failure typically involves medications to improve heart function and reduce fluid buildup, as well as lifestyle changes such as a healthy diet, regular exercise, and avoiding smoking and excessive alcohol consumption. In some cases, surgery or other medical procedures may be necessary to treat the underlying cause of the heart failure or to improve heart function.

Ventricular outflow obstruction (VOO) is a condition in which there is a blockage or narrowing of the blood vessels that carry blood away from the heart's ventricles. This can cause the ventricles to work harder to pump blood, which can lead to an increase in blood pressure and strain on the heart. VOO can be caused by a variety of factors, including congenital heart defects, heart valve problems, and certain heart diseases. It can also be caused by damage to the heart muscle or blood vessels as a result of a heart attack or other cardiovascular disease. Symptoms of VOO may include shortness of breath, chest pain, fatigue, and swelling in the legs and ankles. Treatment for VOO depends on the underlying cause and may include medications, lifestyle changes, or surgery.

In the medical field, "Death, Sudden, Cardiac" refers to a sudden and unexpected death that is caused by a problem with the heart. This type of death is often referred to as sudden cardiac death (SCD) and can occur in people of all ages, including children and young adults. SCD is typically caused by an arrhythmia, which is an abnormal heartbeat that can disrupt the flow of blood to the brain and other vital organs. Other factors that can contribute to SCD include coronary artery disease, heart failure, and inherited heart conditions. Symptoms of SCD may include sudden collapse, loss of consciousness, and difficulty breathing. Treatment for SCD typically involves cardiopulmonary resuscitation (CPR) and the use of a defibrillator to shock the heart back into a normal rhythm. However, because SCD is sudden and often fatal, prevention is key, and people who are at risk may be prescribed medications or undergo procedures to reduce their risk of experiencing a cardiac event.

Cardiac myosins are a type of myosin protein found in the heart muscle cells (cardiomyocytes) of mammals. They are responsible for the contraction and relaxation of the heart muscle, which is essential for pumping blood throughout the body. Cardiac myosins are composed of two main components: a heavy chain and several light chains. The heavy chain contains the motor domain, which is responsible for the movement of the myosin head along the actin filament, and the binding site for ATP (adenosine triphosphate), which provides the energy for the contraction. There are several different types of cardiac myosins, including cardiac myosin heavy chain (MYH7), cardiac myosin light chain 2 (MYL2), and cardiac myosin light chain 3 (MYL3). These different types of myosins are expressed in different regions of the heart and may have different functions. Abnormalities in cardiac myosins can lead to various heart diseases, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmias. Understanding the structure and function of cardiac myosins is important for developing new treatments for these conditions.

Ventricular myosins are a type of myosin proteins that are found in the ventricles of the heart. These proteins are responsible for the contraction of the heart muscle, which is necessary for pumping blood throughout the body. Ventricular myosins are made up of two main components: a heavy chain and a light chain. The heavy chain is responsible for binding to the actin filaments in the heart muscle, while the light chain helps to regulate the contraction of the muscle. Ventricular myosins are essential for maintaining a healthy heart and ensuring that blood is pumped efficiently throughout the body.

Fibrosis is a medical condition characterized by the excessive accumulation of fibrous connective tissue in the body. This tissue is made up of collagen fibers, which are responsible for providing strength and support to tissues. Fibrosis can occur in any part of the body, but it is most commonly seen in the lungs, liver, heart, and kidneys. It can be caused by a variety of factors, including injury, infection, inflammation, and chronic diseases such as diabetes and scleroderma. The accumulation of fibrous tissue can lead to a range of symptoms, depending on the affected organ. For example, in the lungs, fibrosis can cause shortness of breath, coughing, and chest pain. In the liver, it can lead to liver failure and other complications. In the heart, it can cause heart failure and arrhythmias. Fibrosis is often a progressive condition, meaning that it can worsen over time if left untreated. Treatment options depend on the underlying cause of the fibrosis and the severity of the symptoms. In some cases, medications or surgery may be used to slow the progression of the disease or to manage symptoms.

Tachycardia, ventricular refers to an abnormally fast heart rate that originates from the ventricles, which are the lower chambers of the heart. This type of tachycardia is also known as ventricular tachycardia (VT) and can be a serious medical condition that requires prompt medical attention. Ventricular tachycardia can be caused by a variety of factors, including heart disease, electrolyte imbalances, and certain medications. It can also be a complication of other medical conditions, such as heart attacks, heart failure, and myocarditis. The symptoms of ventricular tachycardia can vary depending on the severity and duration of the episode. Common symptoms include palpitations, shortness of breath, dizziness, and fainting. In some cases, ventricular tachycardia can lead to more serious complications, such as cardiac arrest, which can be life-threatening. Treatment for ventricular tachycardia typically involves medications to slow down the heart rate and restore a normal rhythm. In some cases, electrical cardioversion or catheter ablation may be necessary to eliminate the abnormal heart rhythm. It is important to seek medical attention immediately if you suspect you or someone else may be experiencing ventricular tachycardia.

Endomyocardial fibrosis (EMF) is a rare, progressive, and often fatal disease that affects the heart muscle. It is characterized by the accumulation of fibrous tissue within the endocardium, the inner lining of the heart, which can lead to thickening and stiffening of the heart muscle, impairing its ability to pump blood effectively. EMF can affect any part of the heart, but it most commonly affects the left ventricle, which is responsible for pumping oxygen-rich blood to the rest of the body. The disease can also affect the right ventricle, which pumps oxygen-poor blood to the lungs, and the atria, which are the upper chambers of the heart. The exact cause of EMF is not fully understood, but it is thought to be related to chronic inflammation and scarring of the heart muscle. Risk factors for developing EMF include hypertension, diabetes, and parasitic infections such as schistosomiasis. Symptoms of EMF can include shortness of breath, chest pain, fatigue, and swelling in the legs and ankles. Diagnosis is typically made through a combination of physical examination, imaging tests such as echocardiography or cardiac MRI, and biopsy of the affected tissue. Treatment for EMF may include medications to manage symptoms and improve heart function, such as diuretics to reduce fluid buildup and ACE inhibitors or beta blockers to lower blood pressure and reduce the workload on the heart. In severe cases, surgery may be necessary to remove the fibrous tissue or repair damaged heart valves.

Myocardial ischemia is a medical condition that occurs when the blood flow to the heart muscle is reduced or blocked, leading to a lack of oxygen and nutrients to the heart cells. This can cause chest pain or discomfort, shortness of breath, and other symptoms. Myocardial ischemia is often caused by atherosclerosis, a condition in which plaque builds up in the arteries, narrowing or blocking the flow of blood. It can also be caused by other factors, such as heart valve problems or blood clots. Myocardial ischemia can be a serious condition and requires prompt medical attention to prevent heart attack or other complications.

Myosin heavy chains (MHCs) are the largest subunit of the myosin motor protein, which is responsible for muscle contraction. There are multiple isoforms of MHCs, each with different properties and functions. In the medical field, MHCs are important for understanding muscle diseases and disorders. For example, mutations in MHC genes can lead to conditions such as nemaline myopathy, which is a group of muscle disorders characterized by muscle weakness and stiffness. Additionally, changes in MHC expression levels have been observed in various types of cancer, including breast, prostate, and colon cancer. MHCs are also important for understanding muscle development and regeneration. During muscle development, different MHC isoforms are expressed at different stages, and changes in MHC expression can affect muscle function and regeneration. Understanding the regulation of MHC expression is therefore important for developing therapies for muscle diseases and injuries.

Hypertrophy, Left Ventricular refers to the thickening of the left ventricle, which is the main pumping chamber of the heart. This thickening can occur due to an increase in the workload on the heart, such as high blood pressure or a condition called aortic stenosis, or due to an underlying genetic disorder. Left ventricular hypertrophy can lead to heart failure, arrhythmias, and an increased risk of heart attack. It is typically diagnosed through an echocardiogram, a test that uses sound waves to create images of the heart. Treatment may include medications to lower blood pressure and reduce workload on the heart, as well as lifestyle changes such as exercise and a healthy diet. In severe cases, surgery may be necessary.

Arrhythmias, cardiac refer to abnormal heart rhythms that are not synchronized with the electrical signals that control the heartbeat. These abnormal rhythms can be caused by a variety of factors, including structural abnormalities of the heart, damage to the heart muscle, or problems with the electrical conduction system of the heart. Arrhythmias can range from relatively harmless to life-threatening. Some common types of cardiac arrhythmias include atrial fibrillation, ventricular tachycardia, and atrial flutter. Symptoms of arrhythmias may include palpitations, shortness of breath, dizziness, or fainting. Treatment for arrhythmias may involve medications, lifestyle changes, or medical procedures such as catheter ablation or implantation of a pacemaker or defibrillator.

Plakophilins are a family of proteins that play a crucial role in the formation and maintenance of desmosomes, which are specialized cell-cell junctions found in many tissues throughout the body. Desmosomes are responsible for providing mechanical strength and stability to tissues, particularly in areas that experience high levels of stress or strain, such as the skin, heart, and muscles. Plakophilins are transmembrane proteins that span the plasma membrane and anchor intermediate filaments, which are part of the cytoskeleton, to the desmosome. They are also involved in the regulation of desmosome assembly and disassembly, as well as the stability of the desmosomal plaque, which is the central component of the desmosome. Mutations in plakophilin genes have been linked to a number of human diseases, including arrhythmogenic right ventricular cardiomyopathy (ARVC), a disorder that can cause sudden cardiac death, and epidermolysis bullosa simplex (EBS), a skin disorder characterized by blistering and scarring.

Lamin Type A is a type of protein that is found in the nuclear lamina, a mesh-like structure that surrounds the nucleus of a cell. The nuclear lamina plays a crucial role in maintaining the shape and integrity of the nucleus, as well as in regulating gene expression and DNA replication. Lamin Type A is synthesized in the endoplasmic reticulum and then transported to the nucleus, where it is assembled into a filamentous network that forms the nuclear lamina. Lamin Type A is also involved in the formation of interphase chromatin fibers, which help to organize and compact the DNA within the nucleus. Mutations in the gene that encodes Lamin Type A can lead to a group of genetic disorders known as laminopathies, which are characterized by a range of symptoms including muscle weakness, bone deformities, and developmental delays. These disorders are caused by defects in the structure or function of the nuclear lamina, which can disrupt normal cellular processes and lead to tissue damage and dysfunction.

Ventricular remodeling refers to the structural and functional changes that occur in the heart's ventricles (the lower chambers of the heart) in response to various factors such as heart disease, injury, or genetic predisposition. These changes can include thickening of the heart muscle, enlargement of the ventricles, and changes in the electrical activity of the heart. Ventricular remodeling can lead to a variety of heart conditions, including heart failure, arrhythmias, and sudden cardiac death. It is a complex process that involves multiple cellular and molecular mechanisms, including inflammation, fibrosis, and changes in gene expression. In the medical field, ventricular remodeling is an important area of research, as it can help identify new targets for the prevention and treatment of heart disease. Treatment options for ventricular remodeling may include medications, lifestyle changes, and in some cases, surgical interventions.

Troponin T is a protein that is found in cardiac muscle cells. It plays a critical role in the regulation of muscle contraction. When cardiac muscle cells are damaged or injured, troponin T is released into the bloodstream. This can be detected through a blood test and is often used as an indicator of a heart attack or other heart-related conditions. Troponin T levels can also be used to monitor the effectiveness of treatment for heart conditions and to predict the risk of future heart problems.

Cardiac pacing, artificial refers to the medical procedure of implanting a device called a pacemaker into a patient's chest to regulate the heartbeat. The pacemaker is a small electronic device that sends electrical signals to the heart to prompt it to beat at a normal rate. The pacemaker is typically implanted under local anesthesia and can be done on an outpatient basis. The device is connected to the heart through wires called leads, which are placed in the heart's chambers. The pacemaker is then programmed to send electrical signals to the heart at specific intervals to ensure that the heart beats at a normal rate. Artificial cardiac pacing is commonly used to treat patients with bradycardia, a condition in which the heart beats too slowly. It can also be used to treat patients with certain heart conditions, such as heart failure, that cause the heart to beat irregularly. Artificial cardiac pacing can improve a patient's quality of life by reducing symptoms such as fatigue, dizziness, and shortness of breath.

Heart diseases refer to a group of medical conditions that affect the heart and blood vessels. These conditions can range from minor to severe and can affect the heart's ability to pump blood effectively, leading to a variety of symptoms and complications. Some common types of heart diseases include: 1. Coronary artery disease: This is the most common type of heart disease, which occurs when the arteries that supply blood to the heart become narrowed or blocked due to the buildup of plaque. 2. Heart failure: This occurs when the heart is unable to pump enough blood to meet the body's needs. 3. Arrhythmias: These are abnormal heart rhythms that can cause the heart to beat too fast, too slow, or irregularly. 4. Valvular heart disease: This occurs when the heart valves become damaged or diseased, leading to problems with blood flow. 5. Congenital heart disease: This refers to heart defects that are present at birth. 6. Inflammatory heart disease: This includes conditions such as pericarditis and myocarditis, which cause inflammation of the heart. 7. Heart infections: These include conditions such as endocarditis and myocarditis, which can cause damage to the heart muscle and valves. Treatment for heart diseases depends on the specific condition and may include medications, lifestyle changes, and in some cases, surgery. Early detection and treatment are important for improving outcomes and reducing the risk of complications.

Puerperal disorders refer to a group of medical conditions that occur during the postpartum period, which is the time immediately following childbirth. These disorders can affect the mother's physical and mental health and can be life-threatening if left untreated. Some common puerperal disorders include: 1. Postpartum hemorrhage: This is the most common cause of maternal mortality worldwide and occurs when there is excessive bleeding after childbirth. 2. Infection: Infections such as endometritis, pelvic inflammatory disease, and sepsis can occur after childbirth and can be life-threatening if left untreated. 3. Puerperal fever: This is a fever that occurs within the first week after childbirth and can be caused by infection. 4. Postpartum depression: This is a mood disorder that can occur after childbirth and can affect the mother's ability to care for herself and her baby. 5. Postpartum psychosis: This is a rare but serious mental health disorder that can occur after childbirth and can cause hallucinations, delusions, and mood swings. 6. Breastfeeding difficulties: Many new mothers experience difficulties breastfeeding, which can lead to stress and anxiety. 7. Postpartum thyroiditis: This is an autoimmune disorder that can occur after childbirth and can cause symptoms such as fatigue, weight gain, and depression. Prompt diagnosis and treatment of puerperal disorders are essential to ensure the health and well-being of the mother and her baby.

Sarcoglycans are a group of proteins that are involved in muscle function and are found in the sarcolemma, which is the plasma membrane of muscle cells. They are part of a larger group of proteins called dystrophin-associated glycoproteins (DAGs) that play a critical role in maintaining the structural integrity of muscle fibers. Sarcoglycans are important for maintaining the stability of the muscle sarcolemma, which helps to prevent the loss of calcium ions from the muscle cell and maintain proper muscle function. Mutations in the genes that encode for sarcoglycans can lead to a group of inherited muscle disorders known as sarcoglycanopathies, which are characterized by muscle weakness, wasting, and degeneration. These disorders can range in severity from mild to life-threatening and can affect both skeletal and cardiac muscles.

Cardiomegaly is a medical condition characterized by an enlarged heart. The term "cardiomegaly" comes from the Greek words "kardia," meaning heart, and "mega," meaning large. Cardiomegaly can be caused by a variety of factors, including hypertension, valvular heart disease, myocardial infarction (heart attack), cardiomyopathy (disease of the heart muscle), and certain genetic disorders. The diagnosis of cardiomegaly is typically made through imaging tests such as echocardiography, chest X-rays, or computed tomography (CT) scans. Cardiomegaly can lead to a variety of complications, including heart failure, arrhythmias, and increased risk of stroke. Treatment depends on the underlying cause of the cardiomegaly and may include medications, lifestyle changes, and in some cases, surgery.

Defibrillators, Implantable are medical devices that are used to treat life-threatening arrhythmias, such as ventricular fibrillation and pulseless ventricular tachycardia. These devices are implanted in the body, usually in the chest, and are designed to detect when the heart is in a dangerous rhythm and deliver an electrical shock to restore a normal heartbeat. Implantable defibrillators are typically used in patients who have a history of life-threatening arrhythmias or who are at high risk of developing them. They are also used in patients who have had a heart attack or who have undergone certain types of heart surgery. There are two main types of implantable defibrillators: single-chamber and dual-chamber. Single-chamber devices are used to treat arrhythmias that affect only one chamber of the heart, while dual-chamber devices are used to treat arrhythmias that affect both chambers of the heart. Implantable defibrillators are typically programmed to deliver a shock if the heart's electrical activity becomes too fast or too slow. They can also be programmed to monitor the heart's rhythm and deliver a shock if necessary. Some implantable defibrillators also have the ability to monitor other vital signs, such as blood pressure and oxygen levels. Implantable defibrillators are typically implanted by a cardiologist or cardiac surgeon and require regular follow-up care to ensure that they are functioning properly. They are generally considered to be very effective at treating life-threatening arrhythmias and can help to improve the quality of life for patients who have them.

In the medical field, "Death, Sudden" refers to an unexpected and rapid loss of life, typically occurring within minutes to hours of the onset of symptoms. Sudden death can be caused by a variety of factors, including heart attacks, strokes, sudden arrhythmias, severe allergic reactions, and other medical emergencies. It is often characterized by the absence of warning signs or symptoms, and can occur in both young and old individuals. Sudden death is a serious medical emergency that requires immediate attention and intervention to prevent further harm or loss of life.

Desmoglein 2 (DSG2) is a protein that is expressed on the surface of cells in the skin and mucous membranes. It is a component of desmosomes, which are specialized structures that help to anchor cells together and provide mechanical strength to tissues. DSG2 plays a critical role in maintaining the integrity of the skin and other epithelial tissues, and mutations in the gene that encodes DSG2 can lead to a number of inherited disorders that affect the skin and other organs. These disorders, which are collectively known as desmogleinopathies, can cause a range of symptoms, including skin rashes, hair loss, and blistering.

In the medical field, "Disease Models, Animal" refers to the use of animals to study and understand human diseases. These models are created by introducing a disease or condition into an animal, either naturally or through experimental manipulation, in order to study its progression, symptoms, and potential treatments. Animal models are used in medical research because they allow scientists to study diseases in a controlled environment and to test potential treatments before they are tested in humans. They can also provide insights into the underlying mechanisms of a disease and help to identify new therapeutic targets. There are many different types of animal models used in medical research, including mice, rats, rabbits, dogs, and monkeys. Each type of animal has its own advantages and disadvantages, and the choice of model depends on the specific disease being studied and the research question being addressed.

Cardiac catheterization is a medical procedure that involves inserting a thin, flexible tube called a catheter into a blood vessel in the groin, arm, or neck and threading it up to the heart. The catheter is then used to inject a contrast dye into the heart's chambers and blood vessels, which allows doctors to see the heart's structure and function on X-ray images. The procedure is typically used to diagnose and treat a variety of heart conditions, including coronary artery disease, heart valve problems, and heart rhythm disorders. During the procedure, doctors may also perform additional tests, such as angiography, which involves taking X-ray images of the blood vessels to look for blockages or narrowing. Cardiac catheterization is generally considered a safe and minimally invasive procedure, with a low risk of complications. However, as with any medical procedure, there are some risks, including bleeding, infection, and damage to the blood vessels or heart.

Glycogen Storage Disease Type IIb (GSD IIb) is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate that stores energy in the liver and muscles. People with GSD IIb have a deficiency in the enzyme glucose-6-phosphatase, which is necessary for the breakdown of glycogen. As a result, glycogen accumulates in the liver and muscles, leading to a variety of symptoms and complications. The symptoms of GSD IIb can vary widely depending on the severity of the condition and the age at which it is diagnosed. Common symptoms include fatigue, muscle weakness, and liver enlargement. In severe cases, GSD IIb can lead to liver failure, which can be life-threatening. There is currently no cure for GSD IIb, but treatment is focused on managing the symptoms and complications of the condition. This may include dietary changes, such as a low-carbohydrate diet, and medications to help regulate blood sugar levels. In some cases, liver transplantation may be necessary to treat liver failure.

Isolated noncompaction of the ventricular myocardium (INVM) is a rare congenital heart defect that affects the ventricles, which are the main pumping chambers of the heart. INVM is characterized by an abnormal thickening of the ventricular myocardium, which is the muscular layer of the heart that contracts to pump blood. In INVM, the myocardium has a "spongy" or "clefted" appearance, with deep trabeculations (ridges) and shallow recesses (clefts) between them. This abnormal thickening of the myocardium can lead to reduced blood flow and increased pressure in the heart, which can cause symptoms such as shortness of breath, fatigue, and chest pain. INVM is usually diagnosed using echocardiography, a type of ultrasound that allows doctors to visualize the heart and its structures. Treatment for INVM may include medications to control symptoms and prevent complications, or surgery to repair or replace the affected heart structures.

Pregnancy complications, cardiovascular refers to medical conditions that affect the cardiovascular system of a pregnant woman and can potentially harm her or her developing fetus. These complications can include hypertension (high blood pressure), gestational diabetes, preeclampsia, and heart disease. These conditions can lead to serious complications such as preterm labor, fetal growth restriction, and even maternal death if not properly managed. It is important for pregnant women to receive regular prenatal care and to inform their healthcare provider of any pre-existing medical conditions or risk factors for cardiovascular complications.

Desmin is a type of intermediate filament protein that is primarily found in muscle cells, particularly in the sarcomeres of skeletal and cardiac muscles. It is a key component of the cytoskeleton, providing structural support and helping to maintain the shape and integrity of the muscle cell. Desmin is also involved in the regulation of muscle contraction and relaxation, as well as in the repair and regeneration of muscle tissue. In addition, it has been implicated in a number of muscle-related diseases and disorders, including desmin-related myopathy, which is a group of inherited muscle disorders characterized by muscle weakness and atrophy. In the medical field, desmin is often used as a diagnostic marker for muscle diseases and disorders, and it is also studied as a potential target for the development of new treatments for these conditions.

Dystrophin is a protein that plays a crucial role in maintaining the structural integrity of muscle fibers in the human body. It is encoded by the DMD gene, which is located on the X chromosome. Dystrophin is responsible for linking the inner and outer layers of muscle fibers, providing them with stability and preventing them from tearing during muscle contraction. When the DMD gene is mutated or absent, dystrophin cannot be produced, leading to a deficiency in the protein. This deficiency is the underlying cause of Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting disorder that primarily affects boys. DMD is characterized by muscle weakness and wasting, which can lead to difficulty walking, breathing, and even death in severe cases. In addition to DMD, dystrophin deficiency can also cause other forms of muscular dystrophy, such as Becker muscular dystrophy and dilated cardiomyopathy.

Ventricular dysfunction is a medical condition in which the heart's ventricles, the lower chambers responsible for pumping blood out of the heart, are unable to function properly. This can result in a decrease in the amount of blood that is pumped out of the heart with each beat, leading to symptoms such as shortness of breath, fatigue, and swelling in the legs and ankles. There are several types of ventricular dysfunction, including systolic dysfunction, which occurs when the ventricles are unable to contract effectively, and diastolic dysfunction, which occurs when the ventricles are unable to relax and fill with blood properly. Ventricular dysfunction can be caused by a variety of factors, including heart disease, heart attack, high blood pressure, and certain genetic conditions. Treatment for ventricular dysfunction typically involves medications to improve heart function and lifestyle changes such as a healthy diet and regular exercise. In severe cases, surgery may be necessary.

Adrenergic beta-antagonists are a class of drugs that block the action of adrenaline (epinephrine) and noradrenaline (norepinephrine) on beta-adrenergic receptors in the body. These receptors are found in various organs and tissues, including the heart, lungs, and blood vessels. When adrenaline and noradrenaline bind to beta-adrenergic receptors, they cause a number of physiological responses, such as increased heart rate, blood pressure, and bronchodilation. Adrenergic beta-antagonists work by blocking these receptors, thereby reducing the effects of adrenaline and noradrenaline. Adrenergic beta-antagonists are used to treat a variety of medical conditions, including high blood pressure, angina pectoris (chest pain), heart failure, and arrhythmias. They are also used to prevent migraines and to treat anxiety and panic disorders. Some common examples of adrenergic beta-antagonists include propranolol, atenolol, and metoprolol.

Mitral Valve Insufficiency (MVI) is a medical condition in which the mitral valve, which is located between the left atrium and left ventricle of the heart, does not close properly. This allows blood to flow back from the left ventricle into the left atrium, which can lead to an overload of blood in the left atrium and a decrease in the amount of blood flowing to the rest of the body. MVI can be caused by a variety of factors, including damage to the valve from infection, rheumatic fever, or high blood pressure, or it can be a result of a congenital defect. Symptoms of MVI may include shortness of breath, fatigue, chest pain, and swelling in the legs and ankles. Treatment for MVI may include medications to manage symptoms and improve heart function, or surgery to repair or replace the damaged valve.

Ablation techniques refer to a group of medical procedures that involve the removal or destruction of abnormal tissue or cells in the body. These procedures are typically used to treat a variety of medical conditions, including cancer, heart arrhythmias, and uterine fibroids. There are several different types of ablation techniques, including radiofrequency ablation, cryoablation, microwave ablation, laser ablation, and high-intensity focused ultrasound (HIFU). Each technique uses a different method to heat, freeze, or destroy the target tissue. During an ablation procedure, a small device called an ablation catheter is inserted into the body and guided to the location of the abnormal tissue. The catheter is then used to deliver energy to the tissue, either through radiofrequency waves, cold temperatures, microwave energy, laser light, or ultrasound waves. This energy causes the tissue to heat up, freeze, or break down, leading to its destruction. Ablation procedures are generally less invasive than traditional surgery and can be performed on an outpatient basis. They are often used as an alternative to surgery for patients who are not good candidates for surgery or who prefer a less invasive treatment option. However, like all medical procedures, ablation techniques carry some risks, including bleeding, infection, and damage to surrounding tissue.

3-Iodobenzylguanidine (MIBG) is a synthetic analog of norepinephrine that is used in the medical field for diagnostic and therapeutic purposes. It is a radiolabeled compound that is commonly used in imaging studies to detect and evaluate certain types of tumors, particularly pheochromocytomas and neuroblastomas, which are tumors of the adrenal gland and sympathetic nervous system, respectively. In diagnostic imaging, MIBG is typically administered as a radiolabeled compound, such as 131I-MIBG, which is taken up by cells that have high levels of norepinephrine uptake. The radiolabeled compound is then detected using a gamma camera to create images of the distribution of the compound in the body. This can help to identify the location and size of tumors, as well as to determine whether the tumor is producing excess hormones. MIBG is also used in therapeutic applications, particularly for the treatment of certain types of neuroblastoma. In this context, MIBG is administered as a non-radiolabeled compound, and its mechanism of action is thought to involve the inhibition of catecholamine synthesis and release by the tumor cells. This can help to reduce the production of excess hormones and slow the growth of the tumor.

Cardiotonic agents, also known as inotropic agents, are medications that increase the strength and force of contraction of the heart muscle. They are used to treat heart failure, a condition in which the heart is unable to pump enough blood to meet the body's needs. Cardiotonic agents work by increasing the sensitivity of the heart muscle to calcium, which is a key component of muscle contraction. This leads to an increase in the strength and force of the heart's contractions, allowing it to pump more blood and improve cardiac output. Some examples of cardiotonic agents include digitalis, dobutamine, and milrinone.

Catheter ablation is a minimally invasive medical procedure used to treat certain types of heart rhythm disorders, such as atrial fibrillation (AFib) and ventricular tachycardia (VT). It involves using a thin, flexible tube called a catheter to deliver energy to specific areas of the heart tissue, causing it to become scarred and no longer able to generate abnormal electrical signals that can cause arrhythmias. During the procedure, the catheter is inserted into a blood vessel in the groin or wrist and guided to the heart using X-ray imaging. Once the catheter is in place, it is navigated to the area of the heart that is causing the arrhythmia. Energy is then delivered to the tissue through the catheter, causing it to become scarred and no longer able to generate abnormal electrical signals. Catheter ablation is generally considered a safe and effective treatment for certain types of heart rhythm disorders. It can be performed on an outpatient basis and has a high success rate in eliminating or reducing the frequency of arrhythmias. However, like any medical procedure, it carries some risks, including bleeding, infection, and damage to nearby blood vessels or organs.

Heart block is a condition in which the electrical signals that regulate the heartbeat are slowed or blocked as they travel through the heart's conduction system. This can cause the heart to beat too slowly (bradycardia) or irregularly, which can lead to symptoms such as dizziness, fainting, and shortness of breath. There are three main types of heart block: first-degree, second-degree, and third-degree. First-degree heart block is the mildest form and usually does not cause any symptoms. Second-degree heart block is more serious and can cause symptoms, especially if it is caused by an underlying heart condition. Third-degree heart block is the most serious form and can lead to life-threatening complications if not treated promptly. Heart block can be caused by a variety of factors, including damage to the heart muscle, certain medications, and inherited conditions. Treatment options depend on the severity of the heart block and the underlying cause. In some cases, a pacemaker may be necessary to regulate the heartbeat.

A biopsy is a medical procedure in which a small sample of tissue is removed from a person's body for examination under a microscope. The sample is usually taken from a lump, growth, or other abnormal area, and is used to help diagnose a medical condition or disease. There are several types of biopsy procedures, including: 1. Fine-needle aspiration biopsy: A sample of tissue is removed using a thin needle inserted into the abnormal area. 2. Core biopsy: A larger sample of tissue is removed using a hollow needle that takes multiple cores of tissue. 3. Excision biopsy: A larger piece of tissue is removed using a scalpel or other surgical instrument. 4. Endoscopic biopsy: A biopsy is performed using a flexible tube with a camera and light on the end, which is inserted into the body through a natural opening or a small incision. Biopsies are commonly used to diagnose cancer, but they can also be used to diagnose other medical conditions, such as infections, autoimmune diseases, and genetic disorders. The results of a biopsy can help guide treatment decisions and provide important information about a person's prognosis.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that affects muscle strength and function. It is caused by mutations in the dystrophin gene, which is responsible for producing a protein called dystrophin that helps to maintain the integrity of muscle fibers. Without dystrophin, muscle fibers become damaged and break down, leading to progressive muscle weakness and wasting. DMD primarily affects boys and is usually diagnosed in early childhood. The symptoms of DMD typically begin with difficulty in walking and running, which worsen over time. As the disease progresses, affected individuals may experience difficulty in climbing stairs, getting up from a seated position, and even breathing. The disease can also affect the heart and respiratory muscles, leading to serious complications. There is currently no cure for DMD, but there are treatments available that can help manage symptoms and improve quality of life. These may include physical therapy, assistive devices, and medications to help manage muscle stiffness and pain. In some cases, a heart transplant may be necessary to treat complications related to heart muscle damage.

Syncope is a medical condition characterized by a temporary loss of consciousness due to a lack of blood flow to the brain. It is also known as fainting or passing out. Syncope can be caused by a variety of factors, including low blood pressure, heart problems, anemia, dehydration, or certain medications. Symptoms of syncope may include dizziness, lightheadedness, weakness, and loss of consciousness. Treatment for syncope depends on the underlying cause and may include lifestyle changes, medications, or medical procedures.

Tropomyosin is a protein that plays a crucial role in regulating muscle contraction in the medical field. It is a part of the thin filament of muscle fibers and helps to control the interaction between actin and myosin, the two proteins responsible for muscle contraction. In a relaxed muscle, tropomyosin covers the binding sites on actin that allow myosin to attach and generate force. When a muscle is stimulated to contract, calcium ions bind to troponin, a protein that is associated with tropomyosin. This binding causes a conformational change in tropomyosin, exposing the binding sites on actin and allowing myosin to attach and generate force. Tropomyosin is also involved in the regulation of muscle relaxation. When the muscle is no longer stimulated to contract, calcium ions are removed from troponin, causing tropomyosin to return to its original position and cover the binding sites on actin once again, preventing further muscle contraction. Disruptions in tropomyosin function can lead to muscle disorders such as nemaline myopathy, a condition characterized by muscle weakness and stiffness.

Ventricular dysfunction, right refers to a medical condition where the right ventricle of the heart is not functioning properly. The right ventricle is responsible for pumping blood from the heart to the lungs, where it receives oxygen and gets rid of carbon dioxide. When the right ventricle is not functioning properly, it can lead to a decrease in the amount of blood that is pumped to the lungs, which can cause a variety of symptoms and complications. There are several different causes of right ventricular dysfunction, including heart valve problems, heart muscle damage, and heart rhythm disorders. Treatment for right ventricular dysfunction depends on the underlying cause and may include medications, lifestyle changes, and in some cases, surgery. It is important to seek medical attention if you are experiencing symptoms of right ventricular dysfunction, as early diagnosis and treatment can help to improve outcomes and prevent complications.

In the medical field, "connectin" typically refers to a type of protein that plays a crucial role in the formation and maintenance of connective tissue. Connective tissue is a type of tissue that provides support, strength, and protection to the body's organs and tissues. Connectins are found in a variety of connective tissues, including tendons, ligaments, and cartilage. Connectins are large, complex proteins that are made up of multiple subunits. They are responsible for providing strength and flexibility to connective tissue, as well as helping to maintain the structural integrity of tissues. Connectins are also involved in the process of tissue repair and regeneration, as they help to facilitate the growth and differentiation of new cells. There are several different types of connectins, including collagen, elastin, and fibronectin. Each type of connectin has a unique structure and function, and they work together to provide the body's connective tissue with the strength, flexibility, and resilience it needs to function properly.

A Bundle-Branch Block (BBB) is a type of heart rhythm disorder that occurs when there is a disruption in the electrical signals that control the contraction of the heart muscle. The heart has two main electrical pathways, called the right and left bundle branches, which carry electrical signals from the sinoatrial node (the heart's natural pacemaker) to the ventricles (the lower chambers of the heart) and cause them to contract and pump blood. A Bundle-Branch Block occurs when there is a delay or blockage in the electrical signals that travel through the bundle branches, causing the ventricles to contract asynchronously or with an abnormal rhythm. This can lead to a variety of symptoms, including palpitations, shortness of breath, dizziness, and fainting. There are two main types of Bundle-Branch Block: Right Bundle-Branch Block (RBBB) and Left Bundle-Branch Block (LBBB). RBBB is more common and usually has no symptoms, while LBBB is less common and can cause more serious symptoms, such as fainting or heart failure. Treatment for Bundle-Branch Block depends on the underlying cause and the severity of the symptoms. In some cases, no treatment may be necessary, while in others, medications or electrical cardioversion may be used to restore a normal heart rhythm. In severe cases, surgery may be necessary to correct the blockage.

Troponin I is a protein that is found in cardiac muscle cells. It plays a key role in regulating muscle contraction by controlling the interaction between actin and myosin filaments. When troponin I is activated, it allows myosin to bind to actin and initiate muscle contraction. Troponin I levels can be measured in the blood to help diagnose and monitor heart muscle damage or injury, such as in cases of myocardial infarction (heart attack). High levels of troponin I in the blood are a strong indicator of heart muscle damage and can be used to guide treatment decisions and predict outcomes.

Myosins are a family of motor proteins that are responsible for muscle contraction in animals. They are found in almost all eukaryotic cells, including muscle cells, and play a crucial role in the movement of intracellular organelles and vesicles. In muscle cells, myosins interact with actin filaments to generate force and movement. The process of muscle contraction involves the binding of myosin heads to actin filaments, followed by the movement of the myosin head along the actin filament, pulling the actin filament towards the center of the sarcomere. This sliding of actin and myosin filaments past each other generates the force required for muscle contraction. There are many different types of myosins, each with its own specific function and localization within the cell. Some myosins are involved in the movement of organelles and vesicles within the cytoplasm, while others are involved in the movement of chromosomes during cell division. Myosins are also involved in a variety of other cellular processes, including cell migration, cytokinesis, and the formation of cell junctions.

Tachycardia is a medical condition characterized by an abnormally fast heart rate, typically defined as a resting heart rate of 100 beats per minute or higher. The normal resting heart rate for adults is generally considered to be between 60 and 100 beats per minute. Tachycardia can be classified into several types based on the underlying cause, including: 1. Sinus tachycardia: This is the most common type of tachycardia, and it occurs when the heart rate is faster than normal but still within a normal range for the individual's age, fitness level, and other factors. 2. Atrial fibrillation: This is a type of arrhythmia characterized by irregular and rapid heartbeats that originate in the atria (upper chambers) of the heart. 3. Ventricular tachycardia: This is a type of arrhythmia characterized by rapid and irregular heartbeats that originate in the ventricles (lower chambers) of the heart. Tachycardia can be caused by a variety of factors, including stress, anxiety, caffeine or other stimulants, dehydration, electrolyte imbalances, certain medications, and underlying medical conditions such as heart disease, thyroid disorders, or lung disease. Treatment for tachycardia depends on the underlying cause and may include medications, lifestyle changes, or medical procedures such as cardioversion or catheter ablation.

Coxsackievirus infections are a group of viral infections caused by the Coxsackievirus family of viruses. These viruses are highly contagious and can cause a range of symptoms, including fever, rash, and swelling of the hands and feet. In some cases, Coxsackievirus infections can also cause more serious complications, such as meningitis, encephalitis, and myocarditis. These infections are most common in children, but can also affect adults. Treatment for Coxsackievirus infections typically involves supportive care to manage symptoms and prevent complications. In severe cases, antiviral medications may be used to help control the infection.

Pericarditis, Constrictive is a rare condition in which the pericardium, the sac-like tissue surrounding the heart, becomes thickened and scarred, leading to constriction of the heart's ability to fill and pump blood effectively. This constriction can cause a buildup of fluid around the heart, which can lead to symptoms such as shortness of breath, fatigue, and swelling in the legs and abdomen. Treatment for pericarditis, constrictive may include medications to reduce inflammation and fluid buildup, as well as surgery to remove the thickened pericardium or to create an opening in the sac to allow the heart to expand and pump more effectively.

Case-control studies are a type of observational study used in the medical field to investigate the relationship between an exposure and an outcome. In a case-control study, researchers identify individuals who have experienced a particular outcome (cases) and compare their exposure history to a group of individuals who have not experienced the outcome (controls). The main goal of a case-control study is to determine whether the exposure was a risk factor for the outcome. To do this, researchers collect information about the exposure history of both the cases and the controls and compare the two groups to see if there is a statistically significant difference in the prevalence of the exposure between the two groups. Case-control studies are often used when the outcome of interest is rare, and it is difficult or unethical to conduct a prospective cohort study. However, because case-control studies rely on retrospective data collection, they are subject to recall bias, where participants may not accurately remember their exposure history. Additionally, because case-control studies only provide information about the association between an exposure and an outcome, they cannot establish causality.

The coronary circulation refers to the blood flow that supplies oxygen and nutrients to the heart muscle. It is a specialized network of blood vessels that branches off from the aorta, the main artery that carries oxygenated blood from the heart to the rest of the body. The coronary circulation is divided into two main branches: the left coronary artery and the right coronary artery. The left coronary artery supplies blood to the left side of the heart, including the left atrium, left ventricle, and the coronary arteries that branch off from it. The right coronary artery supplies blood to the right atrium and the right ventricle, as well as the coronary arteries that branch off from it. The coronary circulation is essential for maintaining the health and function of the heart muscle. If the blood flow to the heart is restricted or blocked, it can lead to a heart attack, which can be life-threatening. Therefore, the coronary circulation is closely monitored by healthcare professionals, and treatments such as angioplasty or bypass surgery may be necessary to restore blood flow to the heart.

Propanolamines are a class of organic compounds that contain a tertiary amine group attached to a propane chain. They are commonly used as pharmaceuticals and as active ingredients in over-the-counter cold and allergy medications. There are several different types of propanolamines, including pseudoephedrine, phenylephrine, and triprolidine. These drugs work by constricting blood vessels in the nasal passages and sinuses, reducing inflammation, and relieving congestion. They are also used to treat other conditions such as high blood pressure, heart failure, and certain types of asthma. Propanolamines can have side effects, including dizziness, dry mouth, and insomnia. They can also interact with other medications, so it is important to tell your doctor about all the medications you are taking before starting to use propanolamines. In some cases, propanolamines may be contraindicated for certain individuals, such as those with certain heart conditions or high blood pressure.

Natriuretic Peptide, Brain (NPB) is a hormone that is produced by the brain and released into the bloodstream. It is a member of the natriuretic peptide family, which also includes atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP). NPB has several functions in the body, including regulating blood pressure, fluid balance, and heart rate. It works by inhibiting the release of renin, a hormone that stimulates the production of angiotensin II, which in turn constricts blood vessels and increases blood pressure. NPB also has a role in the regulation of the autonomic nervous system, which controls heart rate and blood pressure. It can stimulate the release of nitric oxide, a molecule that helps to relax blood vessels and lower blood pressure. In the medical field, NPB is being studied as a potential diagnostic tool for various cardiovascular diseases, including heart failure and hypertension. It may also have therapeutic potential for these conditions, as it has been shown to improve cardiac function and reduce blood pressure in animal models.

Iodobenzenes are organic compounds that contain an iodine atom bonded to a benzene ring. They are commonly used in the medical field as antithyroid drugs, particularly in the treatment of hyperthyroidism. Iodobenzenes work by inhibiting the production of thyroid hormones by the thyroid gland. They are also used as contrast agents in diagnostic imaging procedures, such as computed tomography (CT) scans. In addition, iodobenzenes have been studied for their potential use in the treatment of other conditions, such as cancer and viral infections.

Desmocollins are a family of proteins that are involved in the formation and maintenance of desmosomes, which are specialized cell-cell junctions found in many tissues throughout the body. Desmosomes are important for maintaining the structural integrity of tissues, particularly in areas that experience mechanical stress, such as the skin and heart. Desmocollins are encoded by a group of genes located on chromosome 12, and there are several different isoforms of the protein that have been identified. These proteins are characterized by the presence of a conserved central domain that is responsible for binding to other desmosomal proteins, as well as a number of other domains that are involved in regulating the activity of the protein. Desmocollins play a critical role in the formation and maintenance of desmosomes, and mutations in the genes encoding these proteins have been linked to a number of inherited disorders that affect the skin, hair, and other tissues. These disorders, which include epidermolysis bullosa simplex and junctional epidermolysis bullosa, are characterized by fragile skin that is prone to blistering and other injuries.

LIM domain proteins are a family of proteins that contain two zinc finger motifs, known as LIM domains, which are responsible for mediating protein-protein interactions. These proteins are involved in a variety of cellular processes, including cytoskeletal organization, cell adhesion, and signal transduction. They are found in a wide range of organisms, including humans, and have been implicated in a number of diseases, including cancer, cardiovascular disease, and neurological disorders.

Metoprolol is a medication that belongs to a class of drugs called beta blockers. It is primarily used to treat high blood pressure, angina (chest pain), and certain types of heart rhythm disorders. Metoprolol works by blocking the effects of adrenaline (a hormone that can cause the heart to beat faster and harder) on the heart, which helps to lower blood pressure and reduce the workload on the heart. It can also be used to prevent migraines and to treat anxiety and panic disorders. Metoprolol is available in both immediate-release and extended-release forms, and it is usually taken by mouth.

Desmoplakins are a group of proteins that are found in the desmosomes of epithelial cells. Desmosomes are specialized cell junctions that provide mechanical strength and stability to tissues, particularly in the skin and other epithelial tissues. Desmoplakins are important components of the desmosomal complex, which also includes cadherins, plakoglobins, and plakophilins. They are large, heavily glycosylated proteins that are synthesized in the endoplasmic reticulum and transported to the Golgi apparatus, where they are modified and packaged for transport to the cell membrane. Desmoplakins play a critical role in maintaining the structural integrity of epithelial tissues and are involved in a number of cellular processes, including cell adhesion, migration, and signaling. Mutations in desmoplakin genes have been associated with a number of human diseases, including epidermolysis bullosa simplex, a genetic disorder characterized by fragile skin that is prone to blistering.

Noonan syndrome is a genetic disorder that affects many parts of the body, including the face, heart, and skeletal system. It is caused by mutations in the PTPN11 gene, which is responsible for producing a protein that helps regulate cell growth and development. People with Noonan syndrome may have distinctive facial features, such as a prominent forehead, upturned nose, and short stature. They may also have heart defects, such as a hole in the heart or an abnormality in the valves, and skeletal abnormalities, such as scoliosis or a curved spine. Other symptoms may include learning difficulties, developmental delays, and an increased risk of certain types of cancer. Noonan syndrome is usually diagnosed through a combination of physical examination, medical history, and genetic testing. There is no cure for Noonan syndrome, but treatment is available to manage the symptoms and improve quality of life.

Receptors, Adrenergic, beta-1 (β1-adrenergic receptors) are a type of protein found on the surface of cells in the body that bind to and respond to the hormone adrenaline (also known as epinephrine). These receptors are primarily located in the heart, lungs, and blood vessels, and play a key role in the body's "fight or flight" response to stress or danger. When adrenaline binds to β1-adrenergic receptors, it triggers a series of chemical reactions within the cell that can have a number of effects on the body. For example, it can cause the heart to beat faster and harder, which can increase blood flow to the muscles and prepare the body for physical activity. It can also cause blood vessels to constrict, which can raise blood pressure and help to direct blood flow to the most important organs. β1-adrenergic receptors are also involved in a number of other physiological processes, including the regulation of glucose metabolism and the control of inflammation. They are an important target for medications used to treat a variety of conditions, including heart disease, high blood pressure, and asthma.

Muscle proteins are proteins that are found in muscle tissue. They are responsible for the structure, function, and repair of muscle fibers. There are two main types of muscle proteins: contractile proteins and regulatory proteins. Contractile proteins are responsible for the contraction of muscle fibers. The most important contractile protein is actin, which is found in the cytoplasm of muscle fibers. Actin interacts with another protein called myosin, which is found in the sarcomeres (the functional units of muscle fibers). When myosin binds to actin, it causes the muscle fiber to contract. Regulatory proteins are responsible for controlling the contraction of muscle fibers. They include troponin and tropomyosin, which regulate the interaction between actin and myosin. Calcium ions also play a role in regulating muscle contraction by binding to troponin and causing it to change shape, allowing myosin to bind to actin. Muscle proteins are important for maintaining muscle strength and function. They are also involved in muscle growth and repair, and can be affected by various medical conditions and diseases, such as muscular dystrophy, sarcopenia, and cancer.

Carbazoles are a class of organic compounds that contain a six-membered aromatic ring with two nitrogen atoms. They are structurally similar to benzene, but with two nitrogen atoms replacing two carbon atoms. In the medical field, carbazoles have been studied for their potential use as anti-cancer agents. Some carbazole derivatives have been shown to selectively target and kill cancer cells, while sparing healthy cells. They are also being investigated for their potential use in the treatment of other diseases, such as Alzheimer's and Parkinson's. Carbazoles have also been used as fluorescent dyes in biological imaging and as photoactive materials in optoelectronic devices.

Dobutamine is a medication that is used to increase the strength of the heart's contractions and to increase the heart's rate. It is a synthetic form of dopamine, a hormone that is naturally produced by the body to help regulate blood pressure and heart function. Dobutamine is typically used to treat heart failure, a condition in which the heart is unable to pump blood effectively throughout the body. It is also sometimes used to treat low blood pressure (hypotension) and to increase blood flow to the heart muscle after a heart attack. Dobutamine is usually given intravenously, and the dosage is adjusted based on the patient's response and any side effects that may occur.

Ventricular premature complexes (VPCs) are abnormal heartbeats that originate from the ventricles, which are the lower chambers of the heart. They are also known as ventricular extra beats or ventricular premature contractions (VPCs). VPCs are a common type of arrhythmia, which is an irregular heartbeat. VPCs can occur spontaneously or in response to certain triggers, such as stress, caffeine, or alcohol. They are usually harmless and do not cause any symptoms in most people. However, in some cases, VPCs can be a sign of an underlying heart condition, such as heart disease or heart failure. VPCs can be detected through an electrocardiogram (ECG), which is a test that records the electrical activity of the heart. Treatment for VPCs may not be necessary if they are not causing any symptoms or if they are a result of a temporary trigger. However, if VPCs are frequent or are causing symptoms, treatment may include medications or other interventions to help regulate the heartbeat.

Cardiac output (CO) is the amount of blood pumped by the heart per minute, typically measured in liters per minute (L/min). Low cardiac output refers to a condition where the heart is not pumping enough blood to meet the body's needs. This can be caused by a variety of factors, including heart failure, low blood volume, severe anemia, and certain medications. Symptoms of low cardiac output may include shortness of breath, fatigue, dizziness, and decreased urine output. Treatment for low cardiac output depends on the underlying cause and may include medications, fluid replacement, or surgery.

Doxorubicin is an anthracycline chemotherapy drug that is used to treat a variety of cancers, including breast cancer, ovarian cancer, and leukemia. It works by interfering with the production of DNA and RNA, which are essential for the growth and division of cancer cells. Doxorubicin is usually administered intravenously, and its side effects can include nausea, vomiting, hair loss, and damage to the heart and kidneys. It is a powerful drug that can be effective against many types of cancer, but it can also have serious side effects, so it is typically used in combination with other treatments or in low doses.

Diabetes Mellitus, Experimental refers to a type of diabetes that is studied in laboratory animals, such as mice or rats, to better understand the disease and develop potential treatments. This type of diabetes is typically induced by injecting the animals with chemicals or viruses that mimic the effects of diabetes in humans. The experimental diabetes in animals is used to study the pathophysiology of diabetes, test new drugs or therapies, and investigate the underlying mechanisms of the disease. The results of these studies can then be used to inform the development of new treatments for diabetes in humans.

Friedreich ataxia is a rare genetic disorder that affects the nervous system, causing progressive damage to the spinal cord and brainstem. It is caused by a mutation in the FXN gene, which leads to a deficiency in the production of a protein called frataxin. This deficiency disrupts the normal functioning of mitochondria, the energy-producing structures within cells, leading to damage and death of nerve cells. The symptoms of Friedreich ataxia typically begin in childhood or adolescence and include difficulty with, balance, and speech, as well as muscle weakness and sensory loss. The disease is usually progressive, and symptoms can worsen over time. There is currently no cure for Friedreich ataxia, but treatments can help manage symptoms and improve quality of life.

Muscular dystrophies are a group of genetic disorders that cause progressive muscle weakness and wasting. These disorders are caused by mutations in genes that are responsible for producing proteins that are essential for maintaining the structure and function of muscle fibers. There are many different types of muscular dystrophies, each with its own specific genetic cause and pattern of inheritance. Some of the most common types of muscular dystrophy include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD), and myotonic dystrophy (DM). The symptoms of muscular dystrophy can vary widely depending on the type and severity of the disorder. Common symptoms include muscle weakness, difficulty with movement, muscle stiffness, and fatigue. In some cases, muscular dystrophy can also affect other organs, such as the heart and lungs. There is currently no cure for muscular dystrophy, but there are treatments available that can help manage symptoms and slow the progression of the disease. These may include physical therapy, medications, and assistive devices such as braces or wheelchairs.

Cardiovascular agents are drugs that are used to treat conditions related to the heart and blood vessels, such as high blood pressure, heart failure, angina, and arrhythmias. These agents can be classified into several categories, including diuretics, beta blockers, calcium channel blockers, ACE inhibitors, angiotensin receptor blockers, and nitrates. These drugs work by affecting various physiological processes in the body, such as blood pressure regulation, heart rate, and blood vessel dilation, to improve cardiovascular function and reduce the risk of heart disease and stroke.

Amyloidosis is a rare disorder characterized by the abnormal accumulation of a protein called amyloid in various tissues and organs of the body. Amyloid is a protein that is normally produced by cells in the body and broken down naturally. However, in amyloidosis, the amyloid protein is produced in excess or is not broken down properly, leading to the formation of abnormal deposits in tissues and organs. The accumulation of amyloid can cause damage to the affected organs and tissues, leading to a range of symptoms and complications depending on the location and severity of the deposits. Common symptoms of amyloidosis include fatigue, weakness, weight loss, swelling in the legs and abdomen, and difficulty breathing. There are several types of amyloidosis, including primary amyloidosis, secondary amyloidosis, and familial amyloidosis. Primary amyloidosis is the most common form and is usually caused by abnormal production of the amyloid protein in the body. Secondary amyloidosis is caused by another underlying medical condition, such as chronic inflammatory diseases or cancer. Familial amyloidosis is an inherited form of the disease that is caused by mutations in certain genes. Treatment for amyloidosis depends on the type and severity of the disease, as well as the underlying cause. Treatment options may include medications to manage symptoms, chemotherapy, radiation therapy, stem cell transplantation, and supportive care to manage complications.

Mitochondrial myopathies are a group of inherited disorders that affect the mitochondria, which are the energy-producing structures within cells. These disorders can cause muscle weakness, fatigue, and other symptoms, and can affect various organs in the body. Mitochondrial myopathies are caused by mutations in genes that are involved in the production or function of mitochondrial proteins. These mutations can lead to a decrease in the production of energy within the mitochondria, which can cause muscle weakness and other symptoms. There are many different types of mitochondrial myopathies, and they can range in severity from mild to severe. Some people with mitochondrial myopathies may have only mild symptoms, while others may have more severe symptoms that can affect their ability to perform daily activities. Treatment for mitochondrial myopathies may involve medications to manage symptoms, physical therapy to improve muscle strength and function, and other supportive therapies. In some cases, a liver transplant or other type of organ transplantation may be necessary to treat complications of the disorder.

Sarcoplasmic Reticulum Calcium-Transporting ATPases (SERCA) are a family of proteins that play a crucial role in regulating intracellular calcium levels in muscle cells. They are responsible for pumping calcium ions from the cytosol back into the sarcoplasmic reticulum, a specialized organelle within muscle cells that stores calcium ions. This process is essential for muscle contraction and relaxation. There are several types of SERCA proteins, including SERCA1, SERCA2a, and SERCA2b, which are found in different types of muscle cells. SERCA1 is primarily found in cardiac muscle cells, while SERCA2a and SERCA2b are found in skeletal and smooth muscle cells, respectively. Defects in SERCA proteins can lead to a variety of medical conditions, including heart failure, arrhythmias, and muscle disorders. For example, mutations in the SERCA2a gene can cause a condition called dilated cardiomyopathy, which is characterized by the enlargement and weakening of the heart muscle. Similarly, mutations in the SERCA1 gene can cause a condition called atrial fibrillation, which is a type of irregular heartbeat.

Antibiotics and antineoplastic drugs are two different classes of medications used in the medical field. Antibiotics are drugs that are used to treat bacterial infections. They work by killing or inhibiting the growth of bacteria. Antibiotics are often prescribed for infections of the skin, respiratory system, urinary tract, and other parts of the body. There are many different types of antibiotics, including penicillins, cephalosporins, macrolides, and fluoroquinolones. Antineoplastic drugs, on the other hand, are medications that are used to treat cancer. They work by stopping or slowing the growth of cancer cells. Antineoplastic drugs can be used to treat a wide range of cancers, including breast cancer, lung cancer, and leukemia. There are many different types of antineoplastic drugs, including chemotherapy drugs, targeted therapy drugs, and immunotherapy drugs. Both antibiotics and antineoplastic drugs are important tools in the treatment of various medical conditions, but they are used for very different purposes. Antibiotics are used to treat bacterial infections, while antineoplastic drugs are used to treat cancer. It is important to use these medications as directed by a healthcare provider to ensure their effectiveness and to minimize the risk of side effects.

Disease progression refers to the worsening or progression of a disease over time. It is a natural course of events that occurs in many chronic illnesses, such as cancer, heart disease, and diabetes. Disease progression can be measured in various ways, such as changes in symptoms, physical examination findings, laboratory test results, or imaging studies. In some cases, disease progression can be slowed or stopped through medical treatment, such as medications, surgery, or radiation therapy. However, in other cases, disease progression may be inevitable, and the focus of treatment may shift from trying to cure the disease to managing symptoms and improving quality of life. Understanding disease progression is important for healthcare providers to develop effective treatment plans and to communicate with patients about their condition and prognosis. It can also help patients and their families make informed decisions about their care and treatment options.

Ventricular fibrillation (VF) is a type of abnormal heart rhythm that occurs when the lower chambers of the heart (ventricles) quiver instead of contracting normally. This quivering causes the heart to be unable to pump blood effectively, leading to a lack of oxygen to the body's vital organs and potentially causing sudden cardiac arrest. VF is a medical emergency that requires immediate treatment with defibrillation, a procedure that uses an electric shock to restore the heart's normal rhythm. Without prompt treatment, VF can be fatal.

A heart aneurysm is a bulge or balloon-like enlargement of a weakened portion of the wall of a blood vessel in the heart. It occurs when a section of the wall becomes thin and weak, causing it to balloon outwards. Aneurysms can occur in any blood vessel in the body, but they are most commonly found in the aorta, which is the largest artery in the body and carries blood from the heart to the rest of the body. Heart aneurysms can be caused by a variety of factors, including high blood pressure, atherosclerosis (the buildup of plaque in the arteries), infections, and injuries. They can also be caused by genetic factors, such as Marfan syndrome or Ehlers-Danlos syndrome. Heart aneurysms can be asymptomatic, meaning that they do not cause any noticeable symptoms. However, if an aneurysm becomes large enough, it can cause symptoms such as chest pain, shortness of breath, and palpitations. In some cases, an aneurysm can rupture, which is a life-threatening emergency that requires immediate medical attention. Treatment for heart aneurysms depends on the size and location of the aneurysm, as well as the underlying cause. Small aneurysms may be monitored with regular imaging tests, while larger aneurysms may require surgery or other interventions to prevent rupture. Medications may also be prescribed to manage symptoms or lower the risk of complications.

Atrial Natriuretic Factor (ANF) is a hormone that is produced by the heart's atria in response to increased pressure within the atria. ANF is released into the bloodstream and acts as a natural diuretic, helping to regulate blood pressure and fluid balance in the body. ANF works by relaxing blood vessels, which reduces blood pressure and allows the kidneys to excrete more sodium and water. This helps to reduce the volume of fluid in the body and lower blood pressure. ANF also inhibits the release of aldosterone, a hormone that regulates the balance of sodium and potassium in the body. In addition to its role in regulating blood pressure and fluid balance, ANF has been shown to have other effects on the body, including reducing the workload on the heart and improving heart function. ANF is also involved in the regulation of the renin-angiotensin-aldosterone system, which plays a key role in blood pressure regulation. Abnormal levels of ANF can be associated with a variety of medical conditions, including heart failure, hypertension, and kidney disease.

Anti-arrhythmia agents, also known as anti-arrhythmic drugs, are medications that are used to treat abnormal heart rhythms, or arrhythmias. These medications work by affecting the electrical activity of the heart, either by slowing down or speeding up the heart rate, or by stabilizing the heart's rhythm. There are several different types of anti-arrhythmia agents, including class I, II, III, and IV drugs. Each class of drug works in a different way to affect the heart's electrical activity, and the choice of medication will depend on the specific type and severity of the arrhythmia being treated. Some common examples of anti-arrhythmia agents include beta blockers, calcium channel blockers, and sodium channel blockers. These medications can be used to treat a wide range of arrhythmias, including atrial fibrillation, ventricular tachycardia, and supraventricular tachycardia. It is important to note that anti-arrhythmia agents can have side effects, and their use should be closely monitored by a healthcare provider. In some cases, alternative treatments, such as electrical cardioversion or catheter ablation, may be necessary.

Gadolinium DTPA, also known as gadopentetate dimeglumine, is a contrast agent used in magnetic resonance imaging (MRI) to enhance the visibility of certain structures within the body. It is a paramagnetic substance that increases the relaxation time of water molecules in the tissue surrounding the targeted area, making it easier for the MRI machine to detect and visualize the area of interest. Gadolinium DTPA is commonly used to diagnose a variety of medical conditions, including brain and spinal cord disorders, cardiovascular diseases, and certain types of cancer. It is typically administered intravenously and can cause side effects such as nausea, headache, and allergic reactions in some patients. However, the benefits of using gadolinium DTPA in MRI imaging generally outweigh the risks, and it is considered a safe and effective diagnostic tool when used appropriately.

Barth syndrome is a rare genetic disorder that affects the body's ability to produce energy. It is caused by mutations in the TAZ gene, which is located on the X chromosome. The disorder is characterized by symptoms such as short stature, delayed puberty, heart problems, skeletal abnormalities, and muscle weakness. Barth syndrome is also associated with an increased risk of sudden cardiac death, particularly in young males. Treatment for Barth syndrome typically involves managing the symptoms and providing supportive care. There is currently no cure for the disorder.

Atrioventricular (AV) block is a type of heart rhythm disorder that occurs when the electrical signals that regulate the heartbeat are delayed or blocked as they travel from the atria (upper chambers) to the ventricles (lower chambers) of the heart. This can cause the heart to beat too slowly or irregularly, which can lead to symptoms such as dizziness, fainting, and shortness of breath. There are three main types of AV block: first-degree, second-degree, and third-degree. First-degree AV block is the mildest form and is characterized by a delay in the electrical signal between the atria and ventricles. Second-degree AV block is more severe and is characterized by a partial blockage of the electrical signal, which can result in a slower heart rate. Third-degree AV block is the most severe form and is characterized by a complete blockage of the electrical signal, which can result in a very slow or irregular heart rate. AV block can be caused by a variety of factors, including damage to the heart muscle, certain medications, and underlying heart conditions such as coronary artery disease or heart failure. Treatment for AV block depends on the severity of the condition and may include medications, a pacemaker, or surgery.

Calcium is a chemical element with the symbol Ca and atomic number 20. It is a vital mineral for the human body and is essential for many bodily functions, including bone health, muscle function, nerve transmission, and blood clotting. In the medical field, calcium is often used to diagnose and treat conditions related to calcium deficiency or excess. For example, low levels of calcium in the blood (hypocalcemia) can cause muscle cramps, numbness, and tingling, while high levels (hypercalcemia) can lead to kidney stones, bone loss, and other complications. Calcium supplements are often prescribed to people who are at risk of developing calcium deficiency, such as older adults, vegetarians, and people with certain medical conditions. However, it is important to note that excessive calcium intake can also be harmful, and it is important to follow recommended dosages and consult with a healthcare provider before taking any supplements.

Contrast media are substances that are used to enhance the visibility of certain structures or organs in medical imaging procedures, such as X-rays, computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound. These substances are typically introduced into the body through injection, ingestion, or inhalation, and they work by altering the way that X-rays or other imaging waves interact with the tissues they pass through. There are several different types of contrast media, including iodinated contrast agents, gadolinium-based contrast agents, and barium sulfate. Iodinated contrast agents are the most commonly used type of contrast media and are typically used to enhance the visibility of blood vessels, organs, and other structures in the body. Gadolinium-based contrast agents are used in MRI scans to enhance the visibility of certain tissues, while barium sulfate is used in X-rays to outline the digestive tract. Contrast media are generally considered safe and effective when used appropriately, but they can cause side effects in some people, such as allergic reactions, nausea, and kidney problems. It is important for patients to discuss the potential risks and benefits of contrast media with their healthcare provider before undergoing an imaging procedure that involves the use of these substances.

Coronary angiography is a medical procedure used to diagnose and treat coronary artery disease (CAD). It involves injecting a contrast dye into the coronary arteries, which are the blood vessels that supply blood to the heart muscle. The dye makes the arteries visible on X-ray images, allowing doctors to see any blockages or narrowing of the arteries. During the procedure, a small catheter (a thin, flexible tube) is inserted into a blood vessel in the arm or leg and guided to the coronary arteries. The contrast dye is then injected through the catheter, and X-ray images are taken to visualize the arteries. Coronary angiography is often used to diagnose CAD, which is a common condition that can lead to heart attacks. It can also be used to guide treatment, such as angioplasty or stent placement, to open up blocked or narrowed arteries and improve blood flow to the heart.

Body Surface Potential Mapping (BSPM) is a diagnostic technique used in the medical field to map the electrical activity of the heart. It involves placing electrodes on different parts of the body to measure the electrical potential differences between them. These measurements are then used to create a map of the electrical activity of the heart, which can help diagnose various heart conditions such as arrhythmias, heart blockages, and myocardial infarctions (heart attacks). BSPM is a non-invasive and painless procedure that is often used in conjunction with other diagnostic tests such as electrocardiography (ECG) and echocardiography.

In the medical field, carrier proteins are proteins that transport molecules across cell membranes or within cells. These proteins bind to specific molecules, such as hormones, nutrients, or waste products, and facilitate their movement across the membrane or within the cell. Carrier proteins play a crucial role in maintaining the proper balance of molecules within cells and between cells. They are involved in a wide range of physiological processes, including nutrient absorption, hormone regulation, and waste elimination. There are several types of carrier proteins, including facilitated diffusion carriers, active transport carriers, and ion channels. Each type of carrier protein has a specific function and mechanism of action. Understanding the role of carrier proteins in the body is important for diagnosing and treating various medical conditions, such as genetic disorders, metabolic disorders, and neurological disorders.

Muscular diseases are a group of disorders that affect the muscles and muscle tissue. These diseases can cause weakness, pain, and stiffness in the muscles, and can affect the ability to move and perform daily activities. Some common muscular diseases include muscular dystrophy, myositis, and myopathy. These diseases can be caused by a variety of factors, including genetic mutations, infections, and autoimmune disorders. Treatment for muscular diseases may include medications, physical therapy, and in some cases, surgery.

Angiocardiography is a medical imaging technique that uses X-rays and a contrast dye to create detailed images of the heart and its blood vessels. The procedure involves injecting a contrast dye into a vein in the arm or leg, which then travels through the bloodstream to the heart. As the dye flows through the heart and its blood vessels, X-rays are taken to create detailed images of the heart's structure and function. Angiocardiography is often used to diagnose and treat a variety of heart conditions, including coronary artery disease, heart valve problems, and congenital heart defects. It can also be used to evaluate the heart's blood flow and to guide procedures such as angioplasty or stent placement. During the procedure, the patient will be asked to lie on an X-ray table and will be given a small amount of medication to help them relax. The contrast dye is then injected into a vein, and the patient may feel a slight pinch or discomfort as the dye is injected. The X-ray images will be taken while the dye is flowing through the heart and its blood vessels, and the procedure typically takes about 30 minutes to an hour. Angiocardiography is a safe and effective diagnostic tool that can provide valuable information about the heart and its blood vessels. However, like all medical procedures, it carries some risks, including allergic reactions to the contrast dye and the possibility of bleeding or infection at the injection site.

Gamma catenin, also known as gamma-catenin or plakoglobin, is a protein that plays a role in cell adhesion and signaling pathways in the mammalian body. It is a member of the catenin family of proteins, which are involved in the formation and maintenance of cell-cell adhesion complexes called adherens junctions. Gamma catenin is a multifunctional protein that interacts with other proteins, including alpha-catenin, beta-catenin, and cadherins, to form a complex that links the cadherin-catenin complex to the actin cytoskeleton. This complex is essential for the stability and function of adherens junctions, which are important for maintaining tissue integrity and regulating cell-cell communication. In addition to its role in cell adhesion, gamma catenin has also been implicated in a variety of cellular processes, including cell proliferation, differentiation, and migration. It has been implicated in the development and progression of several diseases, including cancer, and is a target for therapeutic intervention in some cases.

Gadolinium is a chemical element that is commonly used in the medical field as a contrast agent for magnetic resonance imaging (MRI) scans. It is a paramagnetic metal that enhances the visibility of certain structures in the body on MRI images. When gadolinium is administered to a patient, it binds to proteins in the body and becomes concentrated in areas with high blood flow, such as blood vessels and tumors. This increased concentration of gadolinium in these areas makes them more visible on MRI images, allowing doctors to better diagnose and monitor a variety of medical conditions, including cancer, cardiovascular disease, and neurological disorders. Gadolinium-based contrast agents are generally considered safe and effective when used as directed. However, in some cases, patients may experience adverse reactions to gadolinium, such as allergic reactions or nephrogenic systemic fibrosis (NSF), a rare but serious condition that can cause skin thickening and scarring. As a result, healthcare providers must carefully weigh the benefits and risks of gadolinium use on a case-by-case basis.

In the medical field, a syndrome is a set of symptoms and signs that occur together and suggest the presence of a particular disease or condition. A syndrome is often defined by a specific pattern of symptoms that are not caused by a single underlying disease, but rather by a combination of factors, such as genetic, environmental, or hormonal. For example, Down syndrome is a genetic disorder that is characterized by a specific set of physical and intellectual characteristics, such as a flattened facial profile, short stature, and intellectual disability. Similarly, the flu syndrome is a set of symptoms that occur together, such as fever, cough, sore throat, and body aches, that suggest the presence of an influenza virus infection. Diagnosing a syndrome involves identifying the specific set of symptoms and signs that are present, as well as ruling out other possible causes of those symptoms. Once a syndrome is diagnosed, it can help guide treatment and management of the underlying condition.

Fabry disease is a rare genetic disorder that affects the body's ability to break down a protein called globotriaosylceramide (Gb3). This leads to the accumulation of Gb3 in various organs and tissues, including the kidneys, heart, and nervous system. The disease is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A (α-Gal A). Without enough α-Gal A, Gb3 builds up in cells and can damage them over time. The symptoms of Fabry disease can vary widely and may not appear until adulthood. Common symptoms include pain in the hands and feet, skin rashes, numbness or tingling in the hands and feet, and gastrointestinal problems. In severe cases, the disease can lead to heart problems, kidney failure, and stroke. There is no cure for Fabry disease, but treatments are available to manage symptoms and slow the progression of the disease. These may include enzyme replacement therapy, which involves regular infusions of a synthetic version of α-Gal A, and medications to manage symptoms such as pain and high blood pressure.

LEOPARD Syndrome is a rare genetic disorder that is characterized by a distinctive pattern of birthmarks on the skin, heart defects, and other abnormalities. The acronym LEOPARD stands for the following symptoms: - L: Lentigines (birthmarks on the skin) - E: Ears (abnormalities of the ears) - O: Ocular hypertelorism (widely spaced eyes) - P: Pulmonic stenosis (narrowing of the pulmonary valve in the heart) - A: Aortic stenosis (narrowing of the aortic valve in the heart) - R: Retardo (growth retardation) - D: Diabetes mellitus (type 2 diabetes) Other symptoms of LEOPARD Syndrome may include intellectual disability, hearing loss, and thyroid disorders. The syndrome is caused by mutations in the PTPN11 gene, which is located on chromosome 12. It is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the syndrome.

In the medical field, a chronic disease is a long-term health condition that persists for an extended period, typically for more than three months. Chronic diseases are often progressive, meaning that they tend to worsen over time, and they can have a significant impact on a person's quality of life. Chronic diseases can affect any part of the body and can be caused by a variety of factors, including genetics, lifestyle, and environmental factors. Some examples of chronic diseases include heart disease, diabetes, cancer, chronic obstructive pulmonary disease (COPD), and arthritis. Chronic diseases often require ongoing medical management, including medication, lifestyle changes, and regular monitoring to prevent complications and manage symptoms. Treatment for chronic diseases may also involve rehabilitation, physical therapy, and other supportive care.

Amiodarone is a medication that is used to treat a variety of heart rhythm disorders, including atrial fibrillation, ventricular tachycardia, and ventricular fibrillation. It is a type of antiarrhythmic drug that works by slowing down the electrical activity in the heart and allowing it to beat more regularly. Amiodarone is available in both oral and intravenous forms and is typically used as a long-term treatment for heart rhythm disorders. It is also sometimes used to treat other conditions, such as thyrotoxicosis (overactive thyroid) and pneumonia. However, amiodarone can have serious side effects, including lung problems, liver damage, and thyroid disorders, and it should only be used under the supervision of a healthcare professional.

Ethanol, also known as ethyl alcohol, is a type of alcohol that is commonly used in the medical field as a disinfectant and antiseptic. It is a clear, colorless liquid that is flammable and has a distinctive odor. Ethanol is effective at killing a wide range of microorganisms, including bacteria, viruses, and fungi, and is often used to clean surfaces and equipment in healthcare settings to prevent the spread of infection. In addition to its use as a disinfectant, ethanol is also used as a solvent for medications and other substances, and as a fuel for medical devices such as inhalers and nebulizers. It is also used as a preservative in some medications and vaccines to prevent the growth of microorganisms. Ethanol can be toxic if consumed in large amounts, and can cause a range of symptoms including dizziness, nausea, vomiting, and even death. It is important to use ethanol and other disinfectants and antiseptics safely and according to the instructions provided, to avoid accidental exposure or injury.

Endocardial fibroelastosis (EFE) is a rare heart condition that occurs in infants and young children. It is characterized by the abnormal accumulation of fibrous and elastic tissue in the inner lining of the heart's heart chambers (endocardium). This buildup of tissue can obstruct blood flow through the heart and lead to heart failure. EFE is usually diagnosed in infants and young children, and it is more common in boys than girls. The exact cause of EFE is not known, but it is thought to be related to a viral infection or exposure to certain medications during pregnancy. Other risk factors for EFE include prematurity, low birth weight, and a family history of heart disease. Treatment for EFE typically involves medications to manage symptoms and improve heart function. In some cases, surgery may be necessary to remove the excess tissue and improve blood flow through the heart. The prognosis for children with EFE depends on the severity of their condition and how well they respond to treatment. Some children with EFE may recover fully, while others may require ongoing medical care.

Alpha-crystallin B chain is a protein that is encoded by theCRYAB gene in humans. It is a component of the alpha-crystallin family of proteins, which are found in the lens of the eye and play a role in maintaining the transparency and shape of the lens. The alpha-crystallin B chain is a small, heat-stable protein that is thought to help stabilize the alpha-crystallin complex and protect it from denaturation. Mutations in the CRYAB gene have been associated with several eye disorders, including cataracts and glaucoma.

Biological markers, also known as biomarkers, are measurable indicators of biological processes, pathogenic processes, or responses to therapeutic interventions. In the medical field, biological markers are used to diagnose, monitor, and predict the progression of diseases, as well as to evaluate the effectiveness of treatments. Biological markers can be found in various biological samples, such as blood, urine, tissue, or body fluids. They can be proteins, genes, enzymes, hormones, metabolites, or other molecules that are associated with a specific disease or condition. For example, in cancer, biological markers such as tumor markers can be used to detect the presence of cancer cells or to monitor the response to treatment. In cardiovascular disease, biological markers such as cholesterol levels or blood pressure can be used to assess the risk of heart attack or stroke. Overall, biological markers play a crucial role in medical research and clinical practice, as they provide valuable information about the underlying biology of diseases and help to guide diagnosis, treatment, and monitoring.

Premature cardiac complexes, also known as premature beats or PVCs, are extra heartbeats that occur before the normal heartbeat. They are a common type of arrhythmia, which is an abnormal heart rhythm. PVCs can be caused by a variety of factors, including stress, anxiety, caffeine, alcohol, certain medications, and heart disease. They are usually not a serious problem, but in some cases, they can be a sign of an underlying heart condition and may require medical treatment.

Myocardial stunning is a reversible condition in which the heart muscle becomes temporarily weakened or dysfunctional after a period of stress or injury. This can occur in response to a variety of factors, including ischemia (reduced blood flow to the heart), myocardial infarction (heart attack), or severe arrhythmias (irregular heartbeats). During myocardial stunning, the heart muscle may not contract as effectively as it normally would, even though there is no permanent damage to the cells. This can lead to symptoms such as chest pain, shortness of breath, and fatigue. The condition is typically reversible with appropriate treatment, although in some cases it may lead to more serious complications such as heart failure. Myocardial stunning is an important consideration in the diagnosis and management of heart disease, as it can affect the effectiveness of treatments and the long-term prognosis for patients. It is often diagnosed using imaging techniques such as echocardiography or cardiac magnetic resonance imaging (MRI). Treatment may involve medications to improve blood flow to the heart, lifestyle changes to reduce stress and improve overall heart health, or in some cases, surgery or other invasive procedures.

Hypertrophy refers to the enlargement or thickening of a tissue or organ due to an increase in the size of its cells. In the medical field, hypertrophy can occur in various organs and tissues, including the heart, skeletal muscles, liver, and kidneys. In the context of the heart, hypertrophy is often associated with an increase in the size of the heart muscle in response to increased workload or pressure on the heart. This can occur in conditions such as hypertension, aortic stenosis, or chronic obstructive pulmonary disease (COPD). Hypertrophy of the heart muscle can lead to a decrease in the heart's ability to pump blood efficiently, which can result in heart failure. In skeletal muscles, hypertrophy is often associated with increased physical activity or resistance training, which can lead to an increase in muscle size and strength. This is a normal response to exercise and is not typically associated with any health problems. Overall, hypertrophy can be a normal response to increased workload or physical activity, but it can also be a sign of an underlying health condition that requires medical attention.

Receptors, Adrenergic, beta (β-adrenergic receptors) are a type of protein found on the surface of cells in the body that bind to and respond to signaling molecules called catecholamines, including adrenaline (epinephrine) and noradrenaline (norepinephrine). These receptors are part of the adrenergic signaling system, which plays a critical role in regulating a wide range of physiological processes, including heart rate, blood pressure, metabolism, and immune function. There are three main types of β-adrenergic receptors: β1, β2, and β3. Each type of receptor is found in different tissues and has different functions. For example, β1 receptors are primarily found in the heart and are responsible for increasing heart rate and contractility. β2 receptors are found in the lungs, blood vessels, and muscles, and are involved in relaxing smooth muscle and increasing blood flow. β3 receptors are found in adipose tissue and are involved in regulating metabolism. Activation of β-adrenergic receptors can have a variety of effects on the body, depending on the specific receptor subtype and the tissue it is found in. For example, activation of β2 receptors in the lungs can cause bronchodilation, which can help to open up airways and improve breathing in people with asthma or other respiratory conditions. Activation of β1 receptors in the heart can increase heart rate and contractility, which can help to improve blood flow and oxygen delivery to the body's tissues. Activation of β3 receptors in adipose tissue can increase metabolism and help to promote weight loss. β-adrenergic receptors are important therapeutic targets for a variety of medical conditions, including heart disease, asthma, and diabetes. Drugs that target these receptors, such as beta blockers and beta agonists, are commonly used to treat these conditions.

Cardiac Resynchronization Therapy (CRT) is a treatment for heart failure that involves the use of a special type of pacemaker called a biventricular pacemaker or a cardiac resynchronization device. The device is implanted in the chest and is connected to two leads that are placed in the heart. The device is programmed to send electrical signals to both ventricles of the heart at the same time, which helps to coordinate their contractions and improve the pumping of blood throughout the body. CRT can help to improve symptoms of heart failure, such as shortness of breath and fatigue, and may also reduce the risk of hospitalization and death in some patients.

Desmosomal cadherins are a type of cadherin protein that play a crucial role in the formation and maintenance of desmosomes, which are specialized cell-cell adhesion structures found in many tissues throughout the body. Desmosomes are particularly important in tissues that experience mechanical stress, such as the skin, heart, and muscles. Desmosomal cadherins are encoded by a family of genes that include desmogleins, desmocollins, and desmoplakin. These proteins form homotypic or heterotypic complexes at the cell surface, which link adjacent cells together and provide a strong, stable bond that is resistant to mechanical forces. Mutations in genes encoding desmosomal cadherins can lead to a group of inherited disorders known as desmosomal diseases, which are characterized by abnormal desmosome function and can result in a range of clinical manifestations, including skin fragility, cardiac arrhythmias, and neurological problems.

Cardiotoxins are a type of venom that can cause damage to the heart and cardiovascular system. They are typically produced by venomous animals such as snakes, spiders, and scorpions, and can cause a range of symptoms including heart arrhythmias, low blood pressure, and even cardiac arrest. Cardiotoxins work by targeting specific ion channels in the heart muscle, disrupting the normal electrical activity of the heart and leading to cardiac dysfunction. Treatment for cardiotoxin poisoning typically involves supportive care, such as oxygen therapy and medications to stabilize the heart rhythm, as well as antivenom to neutralize the venom.

Mitochondrial diseases are a group of genetic disorders that affect the function of mitochondria, which are the energy-producing structures in cells. These diseases are caused by mutations in genes that are located in the mitochondria or in the nuclear genome and affect the function of mitochondria. Mitochondrial diseases can affect any organ in the body, but they are most commonly associated with muscle weakness, fatigue, and problems with energy production. Other symptoms may include hearing loss, vision problems, developmental delays, and neurological disorders. There are over 700 known mitochondrial diseases, and they can range from mild to severe. Some people with mitochondrial diseases may have only mild symptoms, while others may have life-threatening complications. Treatment for mitochondrial diseases depends on the specific type and severity of the disorder. In some cases, medications or dietary changes may be used to manage symptoms. In more severe cases, supportive care such as respiratory support or physical therapy may be necessary.

Blood pressure is the force exerted by the blood against the walls of the blood vessels as the heart pumps blood through the body. It is measured in millimeters of mercury (mmHg) and is typically expressed as two numbers: systolic pressure (the pressure when the heart beats) and diastolic pressure (the pressure when the heart is at rest between beats). Normal blood pressure is considered to be below 120/80 mmHg, while high blood pressure (hypertension) is defined as a systolic pressure of 140 mmHg or higher and/or a diastolic pressure of 90 mmHg or higher. High blood pressure is a major risk factor for heart disease, stroke, and other health problems.

Enterovirus infections are a group of viral infections caused by enteroviruses, which are a type of RNA virus that primarily affect the gastrointestinal tract and nervous system. These viruses are highly contagious and can be transmitted through contact with contaminated surfaces, bodily fluids, or respiratory droplets. Enterovirus infections can cause a range of symptoms, depending on the specific virus and the severity of the infection. Common symptoms include fever, headache, nausea, vomiting, diarrhea, and rash. In some cases, enterovirus infections can lead to more serious complications, such as meningitis, encephalitis, and paralysis. There is no specific treatment for enterovirus infections, as the viruses cannot be killed by antibiotics. Treatment typically involves managing symptoms and providing supportive care, such as fluids and pain relief. In severe cases, hospitalization may be necessary. Prevention of enterovirus infections involves practicing good hygiene, such as washing hands frequently and avoiding contact with infected individuals or surfaces. Vaccines are not currently available for all types of enteroviruses, but some vaccines are in development.

Cardiac volume refers to the amount of blood that is contained within the heart at any given time. It is an important parameter in the assessment of cardiac function and can be measured using various imaging techniques such as echocardiography, computed tomography (CT), and magnetic resonance imaging (MRI). There are three main types of cardiac volumes: stroke volume, end-diastolic volume, and end-systolic volume. Stroke volume is the amount of blood pumped out of the heart with each beat, while end-diastolic volume is the amount of blood in the heart at the end of the relaxation phase (diastole) of the cardiac cycle. End-systolic volume is the amount of blood remaining in the heart at the end of the contraction phase (systole) of the cardiac cycle. Abnormalities in cardiac volume can indicate various cardiac diseases or conditions, such as heart failure, valvular heart disease, or myocardial infarction (heart attack). Therefore, accurate measurement of cardiac volume is crucial for the diagnosis and management of these conditions.

Cardiac surgical procedures refer to a range of surgical techniques used to treat various heart conditions. These procedures are typically performed by cardiothoracic surgeons and may involve the use of minimally invasive techniques or open surgery. Some common cardiac surgical procedures include: 1. Coronary artery bypass surgery: This procedure involves using a healthy blood vessel from another part of the body to bypass a blocked or narrowed coronary artery, which can improve blood flow to the heart muscle. 2. Valve replacement or repair: This procedure involves replacing or repairing damaged heart valves, which can improve blood flow through the heart. 3. Heart transplant: This procedure involves replacing a damaged or diseased heart with a healthy heart from a donor. 4. Ablation: This procedure involves using heat, cold, or radiofrequency energy to destroy abnormal heart tissue that is causing irregular heart rhythms. 5. Maze procedure: This procedure involves creating a series of small cuts in the heart to create a maze-like pattern that can help prevent abnormal heart rhythms. 6. Heart bypass surgery: This procedure involves using a healthy blood vessel from another part of the body to bypass a blocked or narrowed coronary artery, which can improve blood flow to the heart muscle. These procedures are typically performed under general anesthesia and may require a hospital stay of several days or more. The specific procedure and recovery time will depend on the individual patient's condition and the type of surgery performed.

Thallium radioisotopes are radioactive isotopes of the element thallium that are used in medical imaging procedures, particularly in nuclear medicine. Thallium-201 (Tl-201) is the most commonly used thallium radioisotope in medical imaging, and it is used primarily for myocardial perfusion imaging (MPI) to evaluate blood flow to the heart muscle. During an MPI procedure, a small amount of Tl-201 is injected into the patient's bloodstream, and a gamma camera is used to detect the gamma rays emitted by the Tl-201 as it is taken up by the heart muscle. The gamma camera creates images of the heart that can reveal areas of reduced blood flow, which may indicate the presence of coronary artery disease or other heart conditions. Thallium radioisotopes are also used in other medical imaging procedures, such as bone scans and brain scans, but Tl-201 is the most commonly used thallium radioisotope in nuclear medicine.

Adrenergic beta-agonists are a class of drugs that mimic the effects of adrenaline (epinephrine) on the body. They work by binding to beta-adrenergic receptors, which are found on the surface of cells in various organs and tissues throughout the body, including the heart, lungs, and blood vessels. When adrenergic beta-agonists bind to these receptors, they stimulate the production of cyclic AMP (cAMP), which triggers a cascade of chemical reactions that ultimately leads to the relaxation of smooth muscle cells in the walls of blood vessels, bronchial tubes, and other organs. This results in dilation of blood vessels, bronchodilation, and increased heart rate and contractility. Adrenergic beta-agonists are used to treat a variety of medical conditions, including asthma, chronic obstructive pulmonary disease (COPD), heart failure, and certain types of arrhythmias. They are also used to treat acute bronchospasm, such as that caused by exercise or allergens, and to treat low blood pressure in patients who have undergone surgery or who are experiencing shock. Examples of adrenergic beta-agonists include albuterol, salbutamol, and terbutaline. These drugs are available in a variety of forms, including inhalers, tablets, and injectables.

Analysis of Variance (ANOVA) is a statistical method used to compare the means of three or more groups. In the medical field, ANOVA can be used to compare the effectiveness of different treatments, interventions, or medications on a particular outcome or variable of interest. For example, a researcher may want to compare the effectiveness of three different medications for treating a particular disease. They could use ANOVA to compare the mean response (e.g., improvement in symptoms) between the three groups of patients who received each medication. If the results show a significant difference between the groups, it would suggest that one medication is more effective than the others. ANOVA can also be used to compare the means of different groups of patients based on a categorical variable, such as age, gender, or race. For example, a researcher may want to compare the mean blood pressure of patients in different age groups. They could use ANOVA to compare the mean blood pressure between the different age groups and determine if there are significant differences. Overall, ANOVA is a powerful statistical tool that can be used to compare the means of different groups in the medical field, helping researchers to identify which treatments or interventions are most effective and to better understand the factors that influence health outcomes.

Genetic predisposition to disease refers to the tendency of an individual to develop a particular disease or condition due to their genetic makeup. It means that certain genes or combinations of genes increase the risk of developing a particular disease or condition. Genetic predisposition to disease is not the same as having the disease itself. It simply means that an individual has a higher likelihood of developing the disease compared to someone without the same genetic predisposition. Genetic predisposition to disease can be inherited from parents or can occur due to spontaneous mutations in genes. Some examples of genetic predisposition to disease include hereditary breast and ovarian cancer, Huntington's disease, cystic fibrosis, and sickle cell anemia. Understanding genetic predisposition to disease is important in medical practice because it can help identify individuals who are at high risk of developing a particular disease and allow for early intervention and prevention strategies to be implemented.

Adenine nucleotide translocator 1 (ANT1) is a protein that plays a role in the transport of adenosine triphosphate (ATP) and adenosine diphosphate (ADP) across the inner mitochondrial membrane. It is a member of the ANT family of proteins, which are involved in the regulation of energy metabolism in cells. ANT1 is encoded by the ANTX1 gene and is found in many tissues throughout the body, including the heart, skeletal muscle, and brain. In the medical field, ANT1 is of interest because it has been implicated in a number of diseases, including heart failure, diabetes, and cancer.

Troponin C is a regulatory protein that plays a crucial role in the contraction of muscle fibers. It is a component of the troponin complex, which is responsible for regulating the interaction between actin and myosin filaments in muscle cells. In a resting muscle, troponin C blocks the binding of calcium ions to troponin I, which prevents the activation of the myosin heads and thus prevents muscle contraction. When a muscle is stimulated to contract, calcium ions are released from the sarcoplasmic reticulum and bind to troponin C, causing a conformational change in the troponin complex that exposes the binding sites on actin for myosin heads to attach and generate force. Troponin C is a sensitive marker of myocardial injury and is commonly used in clinical practice to diagnose and monitor patients with acute myocardial infarction (heart attack). Levels of troponin C in the blood can rise within hours of a heart attack and remain elevated for several days, making it a valuable tool for detecting and monitoring the progression of the disease.

Troponin is a protein that plays a crucial role in muscle contraction. It is found in cardiac and skeletal muscles and is released into the bloodstream when muscle cells are damaged or die. In the medical field, the measurement of troponin levels in the blood is commonly used as a diagnostic tool for myocardial infarction (heart attack) and other heart-related conditions. High levels of troponin in the blood are a strong indicator of heart muscle damage and can help doctors determine the severity of the condition and guide treatment decisions.

DNA, Mitochondrial refers to the genetic material found within the mitochondria, which are small organelles found in the cells of most eukaryotic organisms. Mitochondrial DNA (mtDNA) is a small circular molecule that is separate from the nuclear DNA found in the cell nucleus. Mitochondrial DNA is maternally inherited, meaning that a person inherits their mtDNA from their mother. Unlike nuclear DNA, which is diploid (contains two copies of each gene), mtDNA is haploid (contains only one copy of each gene). Mutations in mitochondrial DNA can lead to a variety of inherited disorders, including mitochondrial disorders, which are a group of conditions that affect the mitochondria and can cause a range of symptoms, including muscle weakness, fatigue, and neurological problems.

The actin cytoskeleton is a complex network of protein filaments, including actin filaments, that extends throughout the cytoplasm of cells. It plays a crucial role in maintaining cell shape, facilitating cell movement, and enabling intracellular transport. The actin cytoskeleton is dynamic, constantly undergoing assembly and disassembly in response to changes in the cell's environment. It is composed of actin monomers, which polymerize to form filaments, and a variety of associated proteins that regulate filament assembly, stability, and function. Disruptions in the actin cytoskeleton can lead to a range of cellular abnormalities and diseases, including cancer, neurodegenerative disorders, and immune system dysfunction.

Coronary vessels, also known as coronary arteries, are blood vessels that supply oxygen-rich blood to the heart muscle. There are two main coronary arteries, the left coronary artery and the right coronary artery, which branch off from the aorta and travel through the heart muscle to supply blood to the heart's various chambers and valves. The coronary arteries are responsible for delivering oxygen and nutrients to the heart muscle, which is essential for its proper function. If the coronary arteries become narrowed or blocked due to atherosclerosis (the buildup of plaque), it can lead to a condition called coronary artery disease (CAD), which can cause chest pain, heart attack, and other serious cardiovascular problems. In some cases, coronary artery disease can be treated with medications, lifestyle changes, or procedures such as angioplasty or coronary artery bypass surgery. It is important to maintain a healthy lifestyle, including regular exercise, a balanced diet, and not smoking, to reduce the risk of developing coronary artery disease and other cardiovascular problems.

Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. These defects can affect the heart's structure, function, or both, and can range from minor to severe. CHDs are the most common type of birth defect and affect approximately 1 in 100 live births. CHDs can occur in any part of the heart, including the valves, arteries, veins, and chambers. Some common types of CHDs include: - Atrial septal defect (ASD): A hole in the wall between the two upper chambers of the heart. - Ventricular septal defect (VSD): A hole in the wall between the two lower chambers of the heart. - Patent ductus arteriosus (PDA): A blood vessel that remains open between the pulmonary artery and the aorta. - Coarctation of the aorta: A narrowing of the aorta, the main artery that carries blood from the heart to the rest of the body. - Tetralogy of Fallot: A combination of four heart defects that affect the flow of blood through the heart. CHDs can cause a range of symptoms, including shortness of breath, fatigue, chest pain, and heart palpitations. Treatment for CHDs depends on the type and severity of the defect, and may include medications, surgery, or other interventions. Early diagnosis and treatment are important for improving outcomes and reducing the risk of complications.

Cohort studies are a type of observational study in the medical field that involves following a group of individuals (a cohort) over time to identify the incidence of a particular disease or health outcome. The individuals in the cohort are typically selected based on a common characteristic, such as age, gender, or exposure to a particular risk factor. During the study, researchers collect data on the health and lifestyle of the cohort members, and then compare the incidence of the disease or health outcome between different subgroups within the cohort. This can help researchers identify risk factors or protective factors associated with the disease or outcome. Cohort studies are useful for studying the long-term effects of exposure to a particular risk factor, such as smoking or air pollution, on the development of a disease. They can also be used to evaluate the effectiveness of interventions or treatments for a particular disease. One of the main advantages of cohort studies is that they can provide strong evidence of causality, as the exposure and outcome are measured over a long period of time and in the same group of individuals. However, they can be expensive and time-consuming to conduct, and may be subject to biases if the cohort is not representative of the general population.

In the medical field, a cicatrix is a scar that forms after the healing of a wound or injury. It is typically a raised, thickened area of skin that is usually pale or lighter in color than the surrounding skin. Cicatrices can be caused by a variety of factors, including surgery, burns, acne, and skin infections. They can range in size and appearance, and may be permanent or fade over time. In some cases, cicatrices may cause discomfort or interfere with the function of the affected area. Treatment options for cicatrices may include topical creams, laser therapy, or surgical procedures.

Myocardial infarction (MI), also known as a heart attack, is a medical condition that occurs when blood flow to a part of the heart muscle is blocked, usually by a blood clot. This lack of blood flow can cause damage to the heart muscle, which can lead to serious complications and even death if not treated promptly. The most common cause of a heart attack is atherosclerosis, a condition in which plaque builds up in the arteries that supply blood to the heart. When a plaque ruptures or becomes unstable, it can form a blood clot that blocks the flow of blood to the heart muscle. Other causes of heart attacks include coronary artery spasms, blood clots that travel to the heart from other parts of the body, and certain medical conditions such as Kawasaki disease. Symptoms of a heart attack may include chest pain or discomfort, shortness of breath, nausea or vomiting, lightheadedness or dizziness, and pain or discomfort in the arms, back, neck, jaw, or stomach. If you suspect that you or someone else is having a heart attack, it is important to call emergency services immediately. Early treatment with medications and possibly surgery can help to reduce the risk of serious complications and improve the chances of a full recovery.

Chordae tendineae are thin, fibrous bands of tissue that connect the papillary muscles of the heart to the openings in the heart valves. They play a crucial role in maintaining the proper function of the heart valves by helping to keep them closed when the heart is relaxed and preventing them from prolapsing (bulging) when the heart is contracting. The chordae tendineae are essential for the proper flow of blood through the heart and preventing backflow (regurgitation) of blood from the heart's chambers. Damage or dysfunction of the chordae tendineae can lead to heart valve problems and heart failure.

Autoantibodies are antibodies that are produced by the immune system against the body's own cells, tissues, or organs. In other words, they are antibodies that mistakenly target and attack the body's own components instead of foreign invaders like viruses or bacteria. Autoantibodies can be present in people with various medical conditions, including autoimmune diseases such as rheumatoid arthritis, lupus, and multiple sclerosis. They can also be found in people with certain infections, cancer, and other diseases. Autoantibodies can cause damage to the body's own cells, tissues, or organs, leading to inflammation, tissue destruction, and other symptoms. They can also interfere with the normal functioning of the body's systems, such as the nervous system, digestive system, and cardiovascular system. Diagnosis of autoantibodies is typically done through blood tests, which can detect the presence of specific autoantibodies in the blood. Treatment for autoimmune diseases that involve autoantibodies may include medications to suppress the immune system, such as corticosteroids or immunosuppressants, as well as other therapies to manage symptoms and prevent complications.

Blood flow velocity refers to the speed at which blood flows through a blood vessel or artery. It is typically measured in units of meters per second (m/s) or centimeters per second (cm/s). Blood flow velocity is an important parameter in the assessment of cardiovascular health, as it can provide information about the functioning of the heart, blood vessels, and blood circulation. Blood flow velocity can be measured using various techniques, including Doppler ultrasound, magnetic resonance imaging (MRI), and computed tomography (CT) angiography. These techniques use sound waves or electromagnetic signals to detect the movement of blood through the blood vessels and calculate the velocity of blood flow. Abnormal blood flow velocities can indicate a variety of cardiovascular conditions, such as stenosis (narrowing) of the blood vessels, atherosclerosis (hardening of the arteries), and blood clots. Therefore, measuring blood flow velocity is an important diagnostic tool in the evaluation and management of cardiovascular diseases.

Calcium-binding proteins are a class of proteins that have a high affinity for calcium ions. They play important roles in a variety of cellular processes, including signal transduction, gene expression, and cell motility. Calcium-binding proteins are found in many different types of cells and tissues, and they can be classified into several different families based on their structure and function. Some examples of calcium-binding proteins include calmodulin, troponin, and parvalbumin. These proteins are often regulated by changes in intracellular calcium levels, and they play important roles in the regulation of many different physiological processes.

Chagas disease, also known as American trypanosomiasis, is a tropical parasitic disease caused by the protozoan parasite Trypanosoma cruzi. It is primarily transmitted to humans through the feces of infected triatomine bugs, also known as "kissing bugs," which bite humans while they sleep. Chagas disease can cause a range of symptoms, including fever, fatigue, swelling of the abdomen, and heart problems. In some cases, the disease can be asymptomatic for years or even decades, but it can eventually lead to serious complications such as heart failure, arrhythmias, and digestive problems. Chagas disease is most prevalent in Latin America, particularly in rural areas, but it can also occur in other parts of the world where the triatomine bugs are present. It is estimated that there are around 6-7 million people worldwide who are infected with T. cruzi, and around 30,000-40,000 new cases are diagnosed each year.

"Familial hypertrophic cardiomyopathy". Genetics Home Reference. U.S. National Library of Medicine. This article incorporates ... and hypertrophic cardiomyopathy. A patient with a 4269A>G mutation in MT-TI was found with the deficiency. Anderson S, Bankier ... causing hypertrophic cardiomyopathy". Human Mutation. 8 (3): 216-22. doi:10.1002/(SICI)1098-1004(1996)8:3. 3.0.CO;2-7. PMID ... "A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy ...
Mutations in the MT-TG gene has also been associated with familial hypertrophic cardiomyopathy. Familial hypertrophic ... "Familial hypertrophic cardiomyopathy". Genetics Home Reference. U.S. National Library of Medicine. Merante F, Tein I, Benson L ... A family with a transition mutation of 9997T>C in the MT-TG gene exhibited familial hypertrophic cardiomyopathy. Anderson S, ... "Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA( ...
Gruen M, Gautel M (Feb 1999). "Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the ... Bonne G, Carrier L, Richard P, Hainque B, Schwartz K (Sep 1998). "Familial hypertrophic cardiomyopathy: from mutations to ... Mass spectrometry characterization of MYBPC3 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene". ...
September 1990). "Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease". The Journal of Clinical ... For instance, it has been associated with retinitis pigmentosa, hypertrophic cardiomyopathy, osteogenesis imperfecta, familial ... Goldstein JL, Dana SE, Brunschede GY, Brown MS (March 1975). "Genetic heterogeneity in familial hypercholesterolemia: evidence ... September 2015). "Challenges and solutions for gene identification in the presence of familial locus heterogeneity". European ...
"First description of germline mosaicism in familial hypertrophic cardiomyopathy". Journal of Medical Genetics. 37 (2): 132-134 ... two offspring of a French woman who had no phenotypic expression of the AD disorder hypertrophic cardiomyopathy, inherited the ... Autosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. This diagnosis may ...
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview MYL2 Info with links in the Cell Migration ... MLC-2v dephosphorylation has also been reported in human patients carrying a rare form of familial hypertrophic cardiomyopathy ... Mutations in MYL2 have been associated with familial hypertrophic cardiomyopathy (FHC). Ten FHC mutations have been identified ... "Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, ...
... at Curlie GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview National ... Familial hypertrophic cardiomyopathy is inherited as an autosomal dominant trait and is attributed to mutations in one of a ... Kittleson MD, Meurs KM, Munro MJ, Kittleson JA, Liu SK, Pion PD, Towbin JA (June 1999). "Familial hypertrophic cardiomyopathy ... December 2005). "A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy". ...
Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with restrictive and dilated ... including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The table below ... "Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy". ... "Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy ...
Other mutations in Caveolin causes Long QT Syndrome or familial hypertrophic cardiomyopathy, although the role of Cav3 in Long ... "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy". Biochem ... Mutations have been identified in the caveolin-3 gene that result in cardiomyopathies. Several of these mutations influence ... Overexpression of caveolin-3 leads to the development of cardiomyopathy, resulting in degeneration of cardiac tissue and ...
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview (Genes on human chromosome 17). ... hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy. Telethonin is a 19.0 kDa protein composed of ... hypertrophic cardiomyopathy, dilated cardiomyopathy, idiopathic cardiomyopathy, and gastrointestinal smooth muscle-related ... "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of the American College of Cardiology. ...
"A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation". Cell. 62 ... at COPaKB Archived 4 March 2016 at the Wayback Machine GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... were the first to identify the causative mutation Arg403Gln for hypertrophic cardiomyopathy (HCM) in the MYH7 gene. Studies ... Jaaskelainen P, Miettinen R, Karkkainen P, Toivonen L, Laakso M, Kuusisto J (2004). "Genetics of hypertrophic cardiomyopathy in ...
Mutations in MYL3 have been identified as a cause of familial hypertrophic cardiomyopathy, and associated with a mid-left ... Mass spectrometry characterization of MYL3 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... "Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South ... expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy". ...
"A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy". Human Molecular ... hypertrophic cardiomyopathy (HCM)). "Best Veterinary Schools". U.S. News & World Report. 2019. Retrieved 24 October 2020. "QS ... taurine deficiency as the cause of dilated cardiomyopathy (DCM) in domestic cats, and the first genetic cause of a heart ... a reversible cardiomyopathy". Science. 237 (4816): 764-768. Bibcode:1987Sci...237..764P. doi:10.1126/science.3616607. ISSN 0036 ...
"Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere". ... Clinical Implications of Beta Cardiac Myosin Heavy Chain Mutations in Hypertrophic Cardiomyopathy (University of London, 1996) ... especially on hypertrophic cardiomyopathy and the genetic causes of "sudden cardiac death". He is chairman of an international ...
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview (Articles with short description, Short ... "A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI- ... "A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene". Cell. 62 (5 ... "A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation". Cell. 62 ...
1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3" (PDF). J. ... GeneReviews/NCBI/NIH/UW entry on Familial Hypertrophic Cardiomyopathy Overview Portal: Biology v t e (CS1: long volume value, ... 2001). "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence ... 2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". N. Engl. J. Med. 344 (24): 1823-31. ...
Revisión" [Familial Hypertrophic Cardiomyopathy: genes, mutations and animal models. a review]. Investigación Clínica (in ... such as Type 1R dilated cardiomyopathy and Type 11 hypertrophic cardiomyopathy. Certain defects of the atrial septum have been ... The mutations in ACTC1 are responsible for at least 5% of hypertrophic cardiomyopathies. The existence of a number of point ... ISBN 978-84-291-7208-9. Kabaeva Z (11 November 2002). Genetic analysis in hypertrophic cardiomyopathy (Thesis). doi:10.18452/ ...
"A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy ...
Familial renal disease is inherited in Abyssinians and Persians Feline hypertrophic cardiomyopathy Heart valve dysplasia ...
... have been shown to be causal for rare forms of familial hypertrophic cardiomyopathy. GRCh38: Ensembl release 89: ... "Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy". Circulation Research. 100 (6): 766-8. doi:10.1161/01.RES. ... in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy" (PDF ... as well as a blunted induction of the fetal hypertrophic gene program and significantly reduced expression of calcineurin- ...
2005). "The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force ...
Morimoto S (2002). "[Abnormal myocardial contractile regulation mechanism in familial hypertrophic and dilated cardiomyopathies ...
cTnI mutations account for approximately 5% of familial hypertrophic cardiomyopathy cases and to date, more than 20 myopathic ... GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview (Articles with short description, Short ... "Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties ... "Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy". Nature Genetics. 16 (4): 379-82. doi: ...
GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview Human CSRP3 genome location and CSRP3 gene ... and hypertrophic cardiomyopathy (HCM) [e.g. L44P, S46R, S54R/E55G, C58G, R64C, Y66C, Q91L, K42/fs165], while the most frequent ... CSRP3 mutations cause hypertrophic cardiomyopathy". Human Molecular Genetics. 17 (18): 2753-65. doi:10.1093/hmg/ddn160. PMID ... "Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy". Circulation. 107 (10): 1390-5. ...
Mutations in the gamma subunit of the AMPK enzyme have been shown to lead to familial hypertrophic cardiomyopathy with Wolff- ...
"Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in ... Identification of Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications ... familial cold autoinflammatory syndrome, and dyskeratosis congenita. The Shapiro-Senapathy algorithm has been used to discover ... Familial Cancer. 16 (1): 131-138. doi:10.1007/s10689-016-9924-2. ISSN 1389-9600. PMID 27561271. S2CID 39665862. KREIMANN, ERICA ...
Gaucher disease (mutations in the GBA gene), Crohn's disease (mutation of NOD2) and familial hypertrophic cardiomyopathy ( ...
... spectrometry characterization of human ACTC1 at COPaKB GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy ... Oct 1999). "Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy". Am J Med Genet. 86 ... The E101K missense mutation has been associated with hypertrophic cardiomyopathy and left ventricular noncompaction. Another ... "Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy". Journal of Molecular and Cellular ...
... familial dilated cardiomyopathy 9, hypertrophic cardiomyopathy and tibial muscular dystrophy. Further research also suggests ... GeneReviews/NIH/NCBI/UW entry on Familial Hypertrophic Cardiomyopathy Overview GeneReviews/NCBI/NIH/UW entry on Udd Distal ... March 1999). "Familial dilated cardiomyopathy locus maps to chromosome 2q31". Circulation. 99 (8): 1022-1026. doi:10.1161/01. ... Truncating mutations in dilated cardiomyopathy patients are most commonly found in the A region; although truncations in the ...
... hypertrophic cardiomyopathy, dilated cardiomyopathy, familial amyloidosis) Inherited arrhythmic syndromes (congenital long QT ... Four types of genetic disorder are associated with atrial fibrillation: Familial AF as a monogenic disease Familial AF ... hypertrophic cardiomyopathy (HCM), pericarditis, congenital heart disease, and previous heart surgery. Congenital heart disease ... Other heart-related risk factors include heart failure, coronary artery disease, cardiomyopathy, and congenital heart disease. ...
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) ... medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy/ Familial hypertrophic cardiomyopathy. ... it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; ... these cases are considered nonfamilial hypertrophic cardiomyopathy. In familial hypertrophic cardiomyopathy, cardiac thickening ...
Dissertation: Early Cardiovascular Changes of Familial Hypertrophic Cardiomyopathy in the Young. ... hypertrophic cardiomyopathy; Familial hypertrophic cardiomyopathy; Medicin och hälsovetenskap Klinisk medicin Kardiologi; ... Abstract: Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, transmitted in an autosomal ... Early Cardiovascular Changes of Familial Hypertrophic Cardiomyopathy in the Young. University dissertation from Paediatrics ( ...
IDENTIFICATION OF NOVEL MYOSIN MUTATIONS THAT CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY ANAN R., THIERFELDER L., WATKINS H., ...
Functional analysis of the mutations in cardiac troponin I which cause familial hypertrophic cardiomyopathy ... Functional analysis of the mutations in cardiac troponin I which cause familial hypertrophic cardiomyopathy ...
A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the ... A fast-throughput service for Familial Hypertrophic and Dilated Cardiomyopathy using High resolution melt curve analysis on the ...
The definition and classification of hypertrophic cardiomyopathy (HCM) have varied over the decades, primarily because the ... Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16. 321(20):1372-8. [QxMD ... Pediatric Hypertrophic Cardiomyopathy. Sarcomeric genes involved in hypertrophic cardiomyopathy (adapted from Priori 1999). ... Pediatric Hypertrophic Cardiomyopathy. ECG of a 16-year-old with hypertrophic cardiomyopathy (HCM), demonstrating left ...
Dilated cardiomyopathy (DCM). *Familial dilated cardiomyopathy (familial DCM). *Hypertrophic cardiomyopathy (HCM). *Left ... Cardiomyopathies. *Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). * ...
Familial Hypercholesterolemia. *Heart Murmur. *Hypertrophic Cardiomyopathy. *Mitral Valve Stenosis/Regurgitation. *Prediabetes ...
Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice.. ... Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice.. ... which results in histological and hemodynamic abnormalities characteristic of familial hypertrophic cardiomyopathy (FHC) and ...
1.3 million people living with familial hypercholesterolemia. Hypertrophic cardiomyopathy. Genetic testing for individuals ... meeting diagnostic criteria for hypertrophic cardiomyopathy. More than 660,000 people living with hypertrophic cardiomyopathy. ... Familial Hypercholesterolemia. Familial hypercholesterolemia (FH) is a common genetic disorder, affecting more than 1 million ... Familial hypercholesterolemia. Cascade testing of first-degree relatives of people diagnosed with FH by measuring low density ...
I422 Other hypertrophic cardiomyopathy. Excludes: Any term indexed to I422 qualified as familial, idiopathic, or primary (I4220 ... I421 Obstructive hypertrophic cardiomyopathy. Excludes: Any term indexed to I421 qualified as familial, idiopathic, or primary ... Primary obstructive hypertrophic cardiomyopathy. Includes: Any term indexed to I421 qualified as familial, idiopathic, or ... I425 Other restrictive cardiomyopathy. Excludes: Any term indexed to I425 qualified as familial, idiopathic, or primary (I4250) ...
Elucidating Molecular Basis of Hypertrophic Cardiomyopathy with Human Induced Pluripotent Stem Cells ... Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.. Return to Grants ... One form of this heart failure is call dilated cardiomyopathy. Earlier studies have found that this disease is caused by ... Characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure, dilated cardiomyopathy (DCM) is ...
OMIM:600958: Cardiomyopathy, familial hypertrophic, 4. OMIM:115197: Neural cell adhesion molecule L1 (P32004) (SMART). OMIM: ...
... familial adenomatous polyposis (FAP; 20.6%), and familial hypertrophic cardiomyopathy (FHC; 19.9%) and a few for sex selection ... and familial hypertrophic cardiomyopathy (19.9%), but few for social sex selection (5.2%); however, in each case, ,50% were ... Many would recommend PGD for cystic fibrosis (CF; 33.7%), breast cancer (BRCA; 23.4%), familial adenomatous polyposis (FAP; ... familial adenomatous polyposis (FAP; 20.6%), and familial hypertrophic cardiomyopathy (FHC; 19.9%) and a few for sex selection ...
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the ... Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is ... Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy ... Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis. Sudheer R. ...
Hypertrophic Cardiomyopathy. *Infective Endocarditis. *Infiltrative Cardiomyopathy. *Ischemic Cardiomyopathy. *Mitral Valve ... Familial Cardiomyopathy. *Family History of Heart Disease. *Heart Disease. *Heart Related Illnesses ... Specialty Interests: Inherited cardiac diseases, valvular heart disease, cardiomyopathies, diseases of the aorta, infiltrative ... Inherited cardiac diseases, valvular heart disease, cardiomyopathies, diseases of the aorta, infiltrative cardiac disorders, ...
... and the mutations in myosin cause familial hypertrophic cardiomyopathy. Image courtesy of Dr F. Schoeni-Affoher, University of ... and the mutations in myosin cause familial hypertrophic cardiomyopathy. Image courtesy of Dr F. Schoeni-Affoher, University of ... First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. Medicine ( ... LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 ...
Hypertrophic Cardiomyopathy. HCM is common in cats and infrequent in dogs. The cause is unknown and a genetic basis is ... Arrhythmogenic Right Ventricular Cardiomyopathy. ARVC is a variant of DCM. It is a familial, primary myocardial disease in ... Dilated (Congestive) Cardiomyopathy (DCM). DCM is characterized by poor myocardial contractility. Most cases are idiopathic. As ... Dogs with a deeper thorax relative to width, familial history of the disease, once daily meals, eating from an elevated ...
This unique program is an internationally recognized center for inherited cardiomyopathy. ... Massive advancements in treatment of hypertrophic cardiomyopathy, some forms of arrhythmogenic and familial dilated ... and familial dilated cardiomyopathy, to inherited and wild-type TTR amyloid cardiomyopathy. We are actively participating in ... Co Director Hypertrophic Cardiomyopathy Program, Cardiomyopathy & Inherited Cardiovascular Disease Program ...
... Modeling Hypertrophic Cardiomyopathy in a Dish Posted on November 8th, 2018. by Dr. Francis Collins ... familial cardiomyopathies, gene editing, genetics, heart, heart disease, heart microchambers, hypertrophic cardiomyopathy, ... such as in inherited familial cardiomyopathies, put people at greater risk for cardiac problems. ...
Adolescents with hypertrophic cardiomyopathy (HCM) and 1 or more major risk factors for sudden cardiac death (SCD). ... Adolescent with a familial cardiomyopathy associated with SCD. * In adolescents with tachycardia-induced cardiomyopathy, ... Ivabradine in Children With Dilated Cardiomyopathy and Symptomatic Chronic Heart Failure. J Am Coll Cardiol. 2017 Sep 5. 70 (10 ... Nesiritide improves hemodynamics in children with dilated cardiomyopathy: a pilot study. Pediatr Cardiol. 2009 Jan. 30(1):26-34 ...
2 - Cardiomyopathies Hypertrophic cardiomyopathy (HCM). Athletes with definite diagnosis of HCM should not participate in ... The positive familial history can be especially helpful in athletes without any clinical symptoms of disease and should ... Furthermore, electrocardiography can be normal in approximately 5% of patients with hypertrophic cardiomyopathy. Rowin et al. ... have recently demonstrated that 10 % of examined young patients with hypertrophic cardiomyopathy presented normal or ...
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED. CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4. CARDIOMYOPATHY, FAMILIAL ... GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS. HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, ...
Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy Maximilian G Posch, Laura ... Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy Maximilian G Posch, Laura ...
Familial Hypertrophic. Cardiomyopathy AR 97.29 7 of 7 ASAH1 Farber Lipogranulomatosis, Spinal Muscular Atrophy With Progressive ...
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience. P Charron et al., Journal of ... Challenges in the genetic testing of children for familial cancers. Angus J Clarke et al., Archives of Disease in Childhood, ... predictive screening for familial adenomatous polyposi (FAP), breast cancer mutation BRCA-1 (BRCA), apolipoprotein E4 (ApoE), ...
An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, ... CROGVPrimary familial hypertrophic cardiomyopathy*CROGVCardiomyopathy, hypertrophic, midventricular, digenic ... CROGVPrimary dilated cardiomyopathy*CROGVPrimary familial dilated cardiomyopathy*CROGV3-Methylglutaconic aciduria type 2 ... An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, ...
Cardiomyopathy, Hypertrophic, Familial 6 0 Cardiomyopathy, Restrictive 5 0 Hypertrophy, Left Ventricular 4 1 ...
Cardiomyopathy, Hypertrophic, Familial 4 0 Pulmonary Embolism 4 0 Obesity, Abdominal 4 0 ...
Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatocellular necros.... OMIM:201475. Familial ... Myopathy, Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Reduced muscle.... OMIM:212140. ... Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,.... OMIM:618052. Bardet-Biedl ... Hypertrophic cardiomyopathy, Cardiomegaly, Intrauterine growth retardation, Ventricular hypertrophy. OMIM:619051. Neuraminidase ...
  • The definition and classification of hypertrophic cardiomyopathy (HCM) have varied over the decades, primarily because the phenotypic expression of ventricular hypertrophy can result from a myriad of diseases, especially among children. (medscape.com)
  • At present, most authorities agree to call this disease entity "hypertrophic cardiomyopathy," which is then subdivided into obstructive and nonobstructive types, depending upon the presence of left ventricular outflow tract obstruction. (medscape.com)
  • Although the ventricle becomes hypertrophic, the ventricular cavity itself does not dilate, remaining normal or even small in size. (medscape.com)
  • Characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure, dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy in patients. (ca.gov)
  • 6 Bayrak F, Komurcu-Bayrak E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N. Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. (thieme-connect.de)
  • The spectrum of cardiomyopathic disease includes diverse diagnoses from hypertrophic and restrictive cardiomyopathy, arrhythmogenic cardiomyopathy, left ventricular non-compaction, and familial dilated cardiomyopathy, to inherited and wild-type TTR amyloid cardiomyopathy. (yale.edu)
  • Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. (nih.gov)
  • Objective: This study aimed to explore the early diagnosis of abnormal left ventricular systolic function of rare pathogenic titin (TTN) mutation gene carriers in familial hypertrophic cardiomyopathy (FHCM) by three-dimensional speckle tracking echocardiography (3D-STE) combined with gene detection. (bvsalud.org)
  • Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. (medlineplus.gov)
  • In familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). (medlineplus.gov)
  • This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form. (medlineplus.gov)
  • A new mouse cardiac electrophysiology method was used to study mice harboring an alpha-myosin heavy chain Arg403Gln missense mutation (alpha-MHC403/+), which results in histological and hemodynamic abnormalities characteristic of familial hypertrophic cardiomyopathy (FHC) and sudden death of uncertain etiology during exercise. (jci.org)
  • 10 Regalado JJ, Rodriguez MM, Ferrer PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. (thieme-connect.de)
  • What's been really tough to model in a dish is how stresses on hearts that are genetically abnormal, such as in inherited familial cardiomyopathies, put people at greater risk for cardiac problems. (nih.gov)
  • An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1. (nih.gov)
  • Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders. (bvsalud.org)
  • Restrictive cardiomyopathy is not always a primary cardiac disorder. (msdmanuals.com)
  • Restrictive cardiomyopathy is the least prevalent form of cardiomyopathy. (msdmanuals.com)
  • Familial hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, transmitted in an autosomal dominant fashion, i.e. 50% risk for transmission of the disease-causing mutation to each child of the affected family. (dissertations.se)
  • In the past, this disease entity has been called idiopathic hypertrophic subaortic stenosis (IHSS), asymmetric septal hypertrophy (ASH), dynamic muscular subaortic stenosis, diffuse muscular subaortic stenosis, hypertrophic subaortic stenosis, Teare disease, Brock disease, and hypertrophic obstructive cardiomyopathy (HOCM). (medscape.com)
  • The hallmark of HCM is myocardial hypertrophy that is inappropriate and often asymmetric and that occurs in the absence of an obvious inciting hypertrophic stimulus. (medscape.com)
  • Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. (thieme-connect.de)
  • Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice. (jci.org)
  • Familial hypertrophic cardiomyopathy (FHC) patients are advised to avoid strenuous exercise due to increased risk of arrhythmias. (bvsalud.org)
  • Massive advancements in treatment of hypertrophic cardiomyopathy, some forms of arrhythmogenic and familial dilated cardiomyopathy, and TTR related amyloid cardiomyopathy are rapidly changing the natural history of disease progression and symptom management. (yale.edu)
  • Familial hypercholesterolemia ( FH) is a common genetic disorder, affecting more than 1 million people in the United States. (cdc.gov)
  • In 2013, a multidisciplinary summit involving health care, public health, research, and advocacy communities developed an action plan for reducing the burden of disease and death from familial hypercholesterolemia . (cdc.gov)
  • Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. (thieme-connect.de)
  • Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. (thieme-connect.de)
  • According to the various accessible medical records, hypertrophic cardiomyopathy (HCM), congenital heart defects, premature coronary artery disease are the most frequent causes of cardiovascular events in athletes (2,3). (escardio.org)
  • The positive familial history can be especially helpful in athletes without any clinical symptoms of disease and should encourage a doctor to perform further necessary examinations (resting ECG, echocardiography, ECG Holter monitoring or eventually genetic tests). (escardio.org)
  • People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. (medlineplus.gov)
  • The family history of cardiovascular diseases is considered positive in athletes when close relatives had experienced a premature heart attack or sudden death (below 55 years of age in males and 65 years in females), or suffered from cardiomyopathy, Marfan syndrome, long QT syndrome, Brugada syndrome, severe arrhythmias, coronary artery disease, or other disabling cardiovascular diseases. (escardio.org)
  • Defects in genes that encode for the sarcomeric proteins (eg, myosin heavy chain, actin, tropomyosin, titin) provide the molecular basis for most cases of familial hypertrophic cardiomyopathy (HCM). (medscape.com)
  • Defects in genes that encode for the sarcomeric proteins (eg, myosin heavy chain, actin, tropomyosin, titin) provide the molecular basis for most cases of familial HCM. (medscape.com)
  • Many patients have respiratory failure, cardiomyopathy, and neuropathy. (medscape.com)
  • The Inherited Cardiomyopathy Program provides expert care for patients or family members of patients with known or suspected cardiomyopathy. (yale.edu)
  • The familial form of hypertrophic cardiomyopathy accounts for more than half of cases. (medlineplus.gov)
  • One form of this heart failure is call dilated cardiomyopathy. (ca.gov)
  • The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. (medlineplus.gov)
  • Our in-house specialized cardiomyopathy genetic counselor provides up to date counseling, interaction with testing companies, and guideline driven patient reporting and family counseling. (yale.edu)
  • these cases are considered nonfamilial hypertrophic cardiomyopathy. (medlineplus.gov)
  • While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. (medlineplus.gov)
  • Familial hypertrophic cardiomyopathy affects an estimated 1 in 200 people worldwide. (medlineplus.gov)
  • The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in tensing (contraction) of the heart muscle by forming muscle cell structures called sarcomeres . (medlineplus.gov)
  • Study IV suggests adverse changes of circulating biomarkers reflecting myocardial matrix remodeling, microfibrosis and vascular endotheliopathy in the early stage of hypertrophic cardiomyopathy in the young. (dissertations.se)
  • Familial hypertrophic cardiomyopathy: genes, mutations and animal models. (nih.gov)
  • Novel mitochondrial DNA mutations associated with Chinese familial hypertrophic cardiomyopathy. (nih.gov)
  • Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. (nih.gov)
  • Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. (nih.gov)
  • An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. (nih.gov)
  • When Do Symptoms of Familial hypertrophic cardiomyopathy Begin? (nih.gov)
  • The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. (medlineplus.gov)
  • The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in tensing (contraction) of the heart muscle by forming muscle cell structures called sarcomeres . (medlineplus.gov)
  • Defects in genes that encode for the sarcomeric proteins (eg, myosin heavy chain, actin, tropomyosin, titin) provide the molecular basis for most cases of familial hypertrophic cardiomyopathy (HCM). (medscape.com)
  • At present, most authorities agree to call this disease entity "hypertrophic cardiomyopathy," which is then subdivided into obstructive and nonobstructive types, depending upon the presence of left ventricular outflow tract obstruction. (medscape.com)
  • I was diagnosed with obstructive hypertrophic cardiomyopathy, and was told I would eventually need surgery, medication and a heart transplant," says Genaille. (ucalgary.ca)
  • However, the classification of cardiomyopathies continues to evolve, based on the rapid evolution of molecular genetics as well as the introduction of recently described diseases. (medscape.com)
  • Familial hypertrophic cardiomyopathy is an autosomal dominant disease with a wide range of clinical features from benign to severe, and is the most common cause of sudden death in otherwise healthy individuals. (nih.gov)
  • An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY . (bvsalud.org)
  • Hypertrophic cardiomyopathy (HCM), an autosomal dominant genetic disease, is the main cause of sudden death in adolescents and athletes globally. (biomedcentral.com)
  • Peripartum cardiomyopathy is a rare disorder in which a pregnant woman's heart becomes weakened and enlarged. (nih.gov)
  • Familial hypercholesterolemia ( FH) is a common genetic disorder, affecting more than 1 million people in the United States. (cdc.gov)
  • In many cases of cardiomyopathy, endomyocardial biopsy is class II (uncertain efficacy and may be controversial) or class III (generally not indicated). (medscape.com)
  • Standard transthoracic echocardiogram (TTE) is performed in adult individuals with hypertrophic cardiomyopathy, pulmonary hypertension, assessment for mitral valve repair, mitral stenosis and assessment for percutaneous mitral commissurotomy, and Marfan syndrome. (phenxtoolkit.org)
  • A team led by Dr. Isaac Kohane at Harvard Medical School more closely examined the connection between hypertrophic cardiomyopathy and the DNA variants that previous studies in the medical literature had associated with the disease. (nih.gov)
  • They identified 5 common DNA variants that were previously linked to hypertrophic cardiomyopathy. (nih.gov)
  • Several patients, most of African ancestry, had been diagnosed with hypertrophic cardiomyopathy based on the variants. (nih.gov)
  • Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. (stanfordhealthcare.org)
  • Methods - Patients with HCM and MYBPC3 variants were identified from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). (stanfordhealthcare.org)
  • Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. (nih.gov)
  • Cardiomyopathy occurs when there is damage to the heart. (nih.gov)
  • Familial hypertrophic cardiomyopathy affects an estimated 1 in 200 people worldwide. (medlineplus.gov)
  • RESULTS: The patient showed atypical fat distribution, insulin resistance and hypertrophic cardiomyopathy. (unime.it)
  • AIM: This report highlights the metabolic, endocrine and cardiovascular comorbidities in a case of familial partial lipodystrophy (FPLD), and also evaluates the efficacy and safety of metformin therapy. (unime.it)
  • However, cardiomyopathy treatments remain inadequate, and no specific approaches have proven to improve prognosis. (biomedcentral.com)
  • Variable prognosis in congestive cardiomyopathy. (wikidoc.org)
  • Genetic testing for hypertrophic cardiomyopathy has been used in the clinic for more than a decade. (nih.gov)
  • Julia Genaille was diagnosed with hypertrophic cardiomyopathy and has received care at Calgary's clinic. (ucalgary.ca)
  • She is also incredibly thankful for the care she has received at the University of Calgary Hypertrophic Cardiomyopathy Clinic (HCM), located at South Health Campus. (ucalgary.ca)
  • Calgary's hypertrophic cardiomyopathy clinic team. (ucalgary.ca)
  • A frequent complication of hypertrophic cardiomyopathy is blood clot formation, typically obstructing blood flow in the aorta. (vin.com)
  • individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. (nih.gov)
  • People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. (medlineplus.gov)
  • Cardiomyopathy is the name for diseases of the heart muscle. (nih.gov)
  • 7. HLA studies in familial and sporadic rheumatoid arthritis. (nih.gov)
  • Moreover, few randomized studies on cardiomyopathy management have been published. (biomedcentral.com)
  • Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al. (nih.gov)
  • When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. (medlineplus.gov)