AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesHealth Care
Arrhythmogenic Right Ventricular DysplasiaPlakophilinsDesmoglein 2DesmocollinsDesmoplakinsTachycardia, VentricularDesmosomesVentricular Dysfunction, RightCardiomyopathiesEndocardiumElectrocardiographyElectrophysiologic Techniques, CardiacHeart VentriclesDefibrillators, ImplantableArrhythmias, CardiacDesmosomal CadherinsDeath, Sudden, CardiacVentricular Function, RightTachycardiaCatheter AblationAnti-Arrhythmia AgentsDisarticulationPedigreeEchocardiographyMyocardiumFollow-Up StudiesMutationDNA Mutational AnalysisMagnetic Resonance ImagingBundle-Branch Blockgamma CateninRecurrenceVentricular DysfunctionElectrocardiography, AmbulatoryBody Surface Potential MappingTreatment OutcomePhenotypePrognosisFibrous Dysplasia of Bone
Arrhythmogenic Right Ventricular Dysplasia
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.
Plakophilins
Members of the armadillo family of proteins that are found in DESMOSOMES and interact with various proteins including desmocadherins; DESMOPLAKIN; ACTIN FILAMENTS; and KERATINS.
Desmoglein 2
A CALCIUM-dependent adhesion molecule of DESMOSOMES that also plays a role in embryonic STEM CELL proliferation.
Desmocollins
A group of desmosomal cadherins with cytoplasmic tails that are divergent from those of classical CADHERINS. Their intracytoplasmic domains bind PLAKOGLOBIN; PLAKOPHILINS; and DESMOPLAKINS.
Desmoplakins
Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
Tachycardia, Ventricular
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).
Desmosomes
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)
Ventricular Dysfunction, Right
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.
Cardiomyopathies
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).
Endocardium
The innermost layer of the heart, comprised of endothelial cells.
Electrocardiography
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.
Electrophysiologic Techniques, Cardiac
Methods to induce and measure electrical activities at specific sites in the heart to diagnose and treat problems with the heart's electrical system.
Heart Ventricles
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.
Defibrillators, Implantable
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.
Arrhythmias, Cardiac
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.
Desmosomal Cadherins
A single-pass transmembrane glycoproteins that mediate CALCIUM-dependent CELL ADHESION and are core components of DESMOSOMES.
Death, Sudden, Cardiac
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)
Ventricular Function, Right
The hemodynamic and electrophysiological action of the right HEART VENTRICLE.
Tachycardia
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.
Catheter Ablation
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.
Anti-Arrhythmia Agents
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.
Disarticulation
Amputation or separation at a joint. (Dorland, 28th ed)
Pedigree
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.
Echocardiography
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
Myocardium
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.
Follow-Up Studies
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.
Mutation
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.
DNA Mutational Analysis
Biochemical identification of mutational changes in a nucleotide sequence.
Magnetic Resonance Imaging
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.
Bundle-Branch Block
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.
gamma Catenin
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.
Recurrence
The return of a sign, symptom, or disease after a remission.
Ventricular Dysfunction
A condition in which HEART VENTRICLES exhibit impaired function.
Electrocardiography, Ambulatory
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.
Body Surface Potential Mapping
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)
Treatment Outcome
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.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Prognosis
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.
Fibrous Dysplasia of Bone
A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).

QT dispersion in patients with arrhythmogenic right ventricular dysplasia. (1/272)

AIMS: Arrhythmogenic right ventricular dysplasia is a rarely diagnosed cardiomyopathy, but a frequent cause of ventricular arrhythmia and sudden cardiac death. QT interval dispersion, measured as an interlead variability of QT, is a marker of dispersion of ventricular repolarization and, hence, of electrical instability. The present study was conducted to assess the occurrence of QT dispersion and its modulation during treatment with sotalol. Methods Twenty-five patients with the diagnosis of arrhythmogenic right ventricular dysplasia were studied retrospectively. Fourteen patients were considered low risk for malignant ventricular arrhythmia and sudden cardiac death, and 11 high risk due to documented sustained ventricular arrhythmia, cardiac arrest, or sudden cardiac death. Twenty five healthy volunteers served as control subjects. RESULTS: Dispersion of repolarization was significantly higher in patients than in control subjects (QTd and JTd: P<0.05). Dispersion of repolarization was equal in patients both with and without malignant arrhythmias. There was no significant change in dispersion after treatment with sotalol. Adjacent QT dispersion between leads V3-V4, V4-V5 and V5-V6, respectively, was higher in patients than in control subjects (P<0. 05), while no differences were seen in leads V1-V2 and V2-V3. CONCLUSION: QT interval dispersion is increased in patients with arrhythmogenic right ventricular dysplasia. However, the degree of dispersion is not related to the severity of symptoms, nor is it influenced by treatment with sotalol.  (+info)

Signal-averaged electrocardiogram in patients with arrhythmogenic right ventricular cardiomyopathy and ventricular arrhythmias. (2/272)

OBJECTIVE: The aim of the study was to assess the prevalence, sensitivity, specificity and predictive value of the signal-averaged ECG in patients with arrhythmogenic right ventricular cardiomyopathy and different forms of ventricular arrhythmias. METHODS: The signal averaged ECG in 138 patients and 146 healthy subjects (control group), using a three bandpass filter system (25-250, 40-250, 80-250 Hz), was considered abnormal when at least two parameters were abnormal at each filter setting. Patients were divided into three groups according to the extent of the right ventricular enlargement (mild, moderate, extensive), and into five groups according to the type of ventricular arrhythmia. RESULTS: The signal averaged ECG was abnormal in 57% of the patients and in 4% of the healthy subjects. The sensitivity was 57%, specificity 95% and positive predictive value 92%. The signal averaged ECG was abnormal in 94.4% of patients with the extensive form of the disease, in 77.7% of patients with the moderate form and in 31.8% of patients with the minor form, demonstrating good correlation with the extent of the disease. According to the type of ventricular arrhythmia, a higher correlation was found between signal averaged ECG abnormality and sustained ventricular tachycardia with superior axis (94.4%, P<0. 02); the correlation for the other arrhythmias varied from 16.6% to 55.8%. CONCLUSION: There is a closer correlation between the signal averaged ECG and extent of disease than with the presence of ventricular arrhythmias. The signal averaged ECG is not helpful in diagnosing minor forms of the disease, but since it is a non-invasive method, it may be useful in evaluating progression of the disease.  (+info)

The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. (3/272)

Arrhythmogenic right-ventricular dysplasia (ARVD), a cardiomyopathy inherited as an autosomal-dominant disease, is characterized by fibro-fatty infiltration of the right-ventricular myocardium. Four loci for ARVD have been mapped in the Italian population, and recently the first locus was mapped in inhabitants of North America. None of the genes have been identified. We have now identified another North American family with early onset of ARVD and high penetrance. All of the children with the disease haplotype had pathological or clinical evidence of the disease at age <10 years. The family spans five generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal-dominant disorder. Genetic linkage analysis excluded known loci, and a novel locus was identified on chromosome 10p12-p14. A peak two-point LOD score of 3.92 was obtained with marker D10S1664, at a recombination fraction of 0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between marker D10S547 and D10S1653. Thus, a novel gene responsible for ARVD resides on the short arm of chromosome 10. This disease is intriguing, since it initiates exclusively in the right ventricle and exhibits pathological features of apoptosis. Chromosomal localization of the ARVD gene is the first step in identification of the genetic defect and the unraveling of the molecular basis responsible for the pathogenesis of the disease.  (+info)

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. (4/272)

Arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) is a heart muscle disease characterized by peculiar RV involvement and electrical instability that precipitates ventricular arrhythmias and sudden death. The purpose of the present consensus report of the Study Group on ARVD/C of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation is to review the considerable progress in our understanding of the etiopathogenesis, morbid anatomy, and clinical presentation of ARVD/C since it first was described in 1977. The present article focuses on important but still unanswered issues, mostly regarding risk stratification, clinical outcome, and management of affected patients. Because ARVD/C is relatively uncommon and any one center may have experience with only a few patients, an international registry is being established to accumulate information and enhance the numbers of patients that can be analyzed and thus answer pending questions. The registry also will facilitate pathological, molecular, and genetics research on the causes and pathogenesis of the ARVD/C. Furthermore, availability of an international database will enhance awareness of this largely unrecognized condition among the medical community. Physicians are encouraged to enroll patients in the International Registry of ARVD/C.  (+info)

Arrhythmogenic right ventricular cardiomyopathy with an initial manifestation of severe left ventricular impairment and normal contraction of the right ventricle. (5/272)

A case of arrhythmogenic right ventricular cardiomyopathy (ARVC) with an initial manifestation of severe impairment of the left ventricle (LV) and normal contraction of the right ventricle (RV) is presented. A 43-year-old man was admitted to hospital because of congestive heart failure following a common cold. The LV function was diffusely and severely hypokinetic. Coronary arteriogram revealed normal vessels. An endomyocardial biopsy specimen obtained from the RV septum revealed mild infiltration of lymphocytes with focal myocytes necrosis and so healing myocarditis was suspected. The specimen did not include any fatty replacement of myocytes. Since then, the patient suffered from recurrent congestive heart failure as well as nonsustained ventricular tachycardia and required frequent hospitalization. Progressive impairment, dilation, and thinning of both ventricles were observed on serial echocardiographic examinations. Although the RV gradually enlarged and became impaired, severe dilatation and impairment of the LV has always been predominant in the patient's clinical course. After medical follow-up for 10 years, he died suddenly of ventricular fibrillation and pump failure. The autopsy revealed extensive fibrofatty replacement of myocytes in both the ventricles, extending from the outer layer to the inner layer of myocardium in the RV and to the middle layer in the LV. These features were compatible with arrhythmogenic right ventricular cardiomyopathy or perimyocarditis, although only the rightsided bundle of the interventricular septum was completely replaced by fatty tissue, which can not be explained as a sequel of perimyocarditis. Moreover, apoptosis was present in the myocyte nuclei of the myocardial layers bordering the area of fatty replacement. Therefore, myocarditis may have triggered or accelerated the process of apoptosis leading to ARVC.  (+info)

Arrhythmogenic right ventricular dysplasia. An illustrated review highlighting developments in the diagnosis and management of this potentially fatal condition. (6/272)

Arrhythmogenic right ventricular dysplasia is an inherited, progressive condition. Characterised by fatty infiltration of the right ventricle, it frequently results in life threatening cardiac arrhythmias, and is one of the important causes of sudden cardiac death in the young. There are characteristic electrocardiographic and echocardiographic features that all physicians need to be aware of if we are to reduce these occurrences of premature death. Diagnosis with magnetic resonance imaging is discussed along with current treatment options.  (+info)

Left ventricular aneurysm without coronary artery disease, incidence and clinical features: clinical analysis of 11 cases. (7/272)

OBJECTIVE: To examine the incidence, underlying disease and clinical features of left ventricular aneurysm (LVA) not related to coronary artery occlusion. METHODS: Retrospective review of consecutive patients who underwent both left ventriculography and coronary angiography. PATIENTS: LVA was confirmed in 11 of 2,348 consecutive patients (0.47%). RESULTS: The location of LVA was mainly in the apical region (81.8%). In five of the 11 patients (45.5%), the underlying heart disease was hypertrophic cardiomyopathy (HCM), including 4 patients of dilated phase and one patient of midventricular type. The serial ECG changes from left ventricular hypertrophy to abnormal Q wave and endomyocardial biopsy were useful for the differential diagnosis of these cases against myocardial infarction. The underlying disease of the remaining patients was: myocarditis (2 patients), arrhythmogenic right ventricular dysplasia (1 patient), Chagas' disease (1 patient), glycogen storage disease (1 patient), and sarcoidosis (1 patient). Ventricular tachycardia appeared in 9 of 11 cases (81.8%) including 2 patients with sustained ventricular tachycardia. CONCLUSION: LVA formation without coronary artery disease was a rare phenomenon. The underlying disease was varied but the incidence of hypertrophic cardiomyopathy in the dilated phase was comparatively high. Ventricular tachycardia was a significant complication in these patients.  (+info)

No detection of enteroviral genome in the myocardium of patients with arrhythmogenic right ventricular cardiomyopathy. (8/272)

AIMS: Despite the evidence of familial occurrence, chromosomal gene mapping, and apoptosis as a mechanism of myocyte death, the aetiopathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) remains speculative. Because of the frequent histological finding of focal inflammatory infiltrates, the hypothesis of an infective myocarditis aetiology has been put forward. The aim of this investigation was to test this hypothesis. The presence of enteroviruses was investigated by a highly sensitive and specific molecular technique. METHODS: Endomyocardial tissue samples from 20 patients with ARVC (11 male, nine female; mean age, 40 years; SD, 16) and 20 control subjects with other cardiac diseases were analysed using reverse transcription and nested polymerase chain reaction (PCR). Myocardial samples obtained from four patients with enteroviral myocarditis and coxsackie B3 virus infected cells were used as positive controls. RESULTS: Endomyocardial biopsy was diagnostic for ARVC in all patients: myocardial atrophy was seen, with less than 45% residual myocytes. Foci of inflammatory infiltrates were seen in four biopsies, and the cells were identified by immunohistochemistry as mainly T cells. All samples, from both patients with ARVC and subjects with other cardiac diseases, were negative for enteroviral genome by means of nested PCR. CONCLUSION: These findings indicate that enteroviruses are not involved in the aetio-pathogenesis of ARVC. Future molecular studies should investigate the presence of other infective agents, as well as their possible role in triggering apoptosis.  (+info)

Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the...Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the...
Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study.
https://scholars.duke.edu/display/pub726942
Arrhythmogenic right ventricular dysplasia/cardiomyopathy - Three decades of progress<...
TY - JOUR. T1 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy - Three decades of progress. AU - Calkins, Hugh. PY - 2015. Y1 - 2015. N2 - Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare, inherited cardiomyopathy characterized by ventricular arrhythmias, sudden cardiac death, and right ventricular dysfunction. Since the first major description of this disease, much has been learned about ARVD/C. One of the main breakthroughs was the discovery that mutations in desmosomal proteins are the most frequent genetic basis of ARVD/C. Today, genetic testing plays an important role in both the diagnosis of ARVD/C and cascade family screening. Much has also been learned concerning the optimal approaches to diagnosis. The 2010 Task Force Diagnostic criteria for ARVD/C represent the standard for diagnosis today. We have also learned much about the importance of proband status and the 24-h PVC count to assess sudden death risk, and the importance of exercise both in the ...
https://jhu.pure.elsevier.com/en/publications/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy-three-de-4
Arrhythmogenic right ventricular cardiomyopathy/dysplasia | Orphanet Journal of Rare Diseases | Full TextArrhythmogenic right ventricular cardiomyopathy/dysplasia | Orphanet Journal of Rare Diseases | Full Text
The disease was first described by Giovanni Maria Lancisi in 1736, who in his book De Motu Cordis et Aneurysmatibus reported a family with disease recurrence in four generations: the affected members presented with palpitations, heart failure, dilation and aneurysms of the RV and sudden death [9].. Dalla Volta et al. in 1961 reported a patient with auricularization of the RV pressure curve, emphasizing the peculiar hemodynamic picture of this non-ischemic heart muscle disease with RV behaving like an atrium [10]. However, we had to wait until the 80s to find the first clinical and pathologic series of patients with ARVC/D reported by Drs Marcus, Nava and Thiene [1-3].. Marcus et al. in 1982 reported the disease in adults, first emphasizing the origin of arrhythmias from the RV and the histopathological substrate consisting of fibro-fatty replacement of the RV free wall, accounting for epsilon wave and ventricular arrhythmias of RV origin with left bundle branch block (LBBB) morphology ...
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-45
Pregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | JACC: Journal of the American College of CardiologyPregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | JACC: Journal of the American College of Cardiology
We read with interest the paper by Marcus et al. (1) published in the May 14, 2013 issue of the Journal. The authors brought to light the complex nature of clinical genetics in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Overall, this paper provides an important review of the current state of clinical genetic testing for this rare condition. We applaud the authors for their confirmation of the Heart Rhythm Society/European Heart Rhythm Association guidelines (2) in recommending genetic counseling when ordering genetic testing in this and other cardiomyopathies.. The Johns Hopkins arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) program was established in 1999 with 3 goals: 1) to educate patients and physicians about ARVD/C; 2) to evaluate and manage patients with known or suspected ARVD/C; and 3) to contribute to the body of literature regarding this condition. The program has facilitated the clinical evaluation of over 1,140 patients and follows over 250 ...
http://www.onlinejacc.org/content/62/20/1910
Long-Term Efficacy of Catheter Ablation of Ventricular Tachycardia in Patients With Arrhythmogenic Right Ventricular Dysplasia...
TY - JOUR. T1 - Long-Term Efficacy of Catheter Ablation of Ventricular Tachycardia in Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. AU - Dalal, Darshan. AU - Jain, Rahul. AU - Tandri, Harikrishna. AU - Dong, Jun. AU - Eid, Shaker M. AU - Prakasa, Kalpana. AU - Tichnell, Crystal. AU - James, Cynthia Anne. AU - Abraham, Theodore. AU - Russell, Stuart D.. AU - Sinha, Sunil. AU - Judge, Daniel P.. AU - Bluemke, David A.. AU - Marine, Joseph. AU - Calkins, Hugh. PY - 2007/7/31. Y1 - 2007/7/31. N2 - Objectives: This study sought to evaluate the outcomes of radiofrequency catheter ablation (RFA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. Particular focus was placed on defining the single-procedure efficacy over long-term follow-up. Background: ARVD/C is an inherited cardiomyopathy characterized by VT and right ventricular dysfunction. Prior single-center studies have reported conflicting results concerning ...
https://jhu.pure.elsevier.com/en/publications/long-term-efficacy-of-catheter-ablation-of-ventricular-tachycardi-4
Arrhythmogenic Right Ventricular Cardiomyopathy - SNPediaArrhythmogenic Right Ventricular Cardiomyopathy - SNPedia
̣̣̣̺ Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is an inherited heart disease.Wikipedia ARVD is caused by genetic defects of the parts of heart muscle (also called myocardium or cardiac muscle) known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations. The disease is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. ARVD can be found in association with diffuse palmoplantar keratoderma, and woolly hair, in a autosomal recessive condition called Naxos disease, ...
https://www.snpedia.com/index.php/Arrhythmogenic_Right_Ventricular_Cardiomyopathy
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy<...No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy<...
TY - JOUR. T1 - No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy. AU - Hoorntje, Edgar T. AU - Posafalvi, Anna. AU - Syrris, Petros. AU - van der Velde, K Joeri. AU - Bolling, Marieke C. AU - Protonotarios, Alexandros. AU - Boven, Ludolf G. AU - Amat-Codina, Nuria. AU - Groeneweg, Judith A. AU - Wilde, Arthur A. AU - Sobreira, Nara. AU - Calkins, Hugh. AU - Hauer, Richard N W. AU - Jonkman, Marcel F. AU - McKenna, William J. AU - Elliott, Perry M. AU - Sinke, Richard J. AU - van den Berg, Maarten P. AU - Chelko, Stephen P. AU - James, Cynthia A. AU - van Tintelen, J Peter. AU - Judge, Daniel P. AU - Jongbloed, Jan D H. PY - 2018/8/30. Y1 - 2018/8/30. N2 - AIMS: Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized that ...
https://research.rug.nl/en/publications/no-major-role-for-rare-plectin-variants-in-arrhythmogenic-right-v
The Janet Memorial Fund: Arrhythmogenic Right Ventricular Dysplasia (ARVD)The Janet Memorial Fund: Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Also known as arrhythmogenic right ventricular cardiomyopathy. ARVD stands for Arrhythmogenic Right Ventricular Dysplasia. Arrhythmogenic means causing an arrhythmia. The right ventricle is the chamber of the heart that is affected and dysplasia means there is an abnormality of the structure. The right ventricle is dilated and contracts poorly. As a result, the ability of the heart to pump blood is usually weakened. Patients with ARVD often have arrhythmias (abnormal heart rhythms), which can increase the risk of sudden cardiac arrest or death.. ARVD is a specific type of cardiomyopathy (a disorder of the cardiac muscle).. Simply put, ARVD is a genetic, progressive heart condition in which the muscle of the right ventricle is replaced by fat and fibrosis, which causes abnormal heart rhythms. ARVD is estimated to affect one in 5,000 people. The disease can affect both men and women. Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one fifth of sudden ...
http://janetzilinski.org/arvd/
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk<...
TY - JOUR. T1 - Arrhythmogenic Right Ventricular Cardiomyopathy. T2 - Clinical Course and Predictors of Arrhythmic Risk. AU - Mazzanti, Andrea. AU - Ng, Kevin. AU - Faragli, Alessandro. AU - Maragna, Riccardo. AU - Chiodaroli, Elena. AU - Orphanou, Nicoletta. AU - Monteforte, Nicola. AU - Memmi, Mirella. AU - Gambelli, Patrick. AU - Novelli, Valeria. AU - Bloise, Raffaella. AU - Moro, Guido. AU - Tibollo, Valentina. AU - Morini, Massimo. AU - Bellazzi, Riccardo. AU - Napolitano, Carlo. AU - Bagnardi, Vincenzo. AU - Priori, Silvia G.. PY - 2016/12/13. Y1 - 2016/12/13. N2 - Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a leading cause of sudden cardiac death, but its progression over time and predictors of arrhythmias are still being defined. Objectives This study sought to describe the clinical course of ARVC and occurrence of life-threatening arrhythmic events (LAE) and cardiovascular mortality; identify risk factors associated with increased LAE risk; and define the ...
https://moh-it.pure.elsevier.com/en/publications/arrhythmogenic-right-ventricular-cardiomyopathy-clinical-course-a
Penetrance of Mutations in Plakophilin-2 Among Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | JACC:...Penetrance of Mutations in Plakophilin-2 Among Families With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy | JACC:...
Arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized histologically by fibro-fatty myocardial replacement of the RV and clinically by ventricular arrhythmias and RV dysfunction (1,2). Patients with ARVD/C typically present in their mid-teens to mid-forties with symptomatic ventricular tachycardia (VT) of a left bundle branch block morphology (3). Sudden cardiac death may be the first manifestation of the disease (3-5). Clinical diagnosis is based on diagnostic criteria proposed by the International Task Force of the European Society of Cardiology and International Society and Federation of Cardiology that take into account arrhythmic, electrocardiographic, structural, and histopathologic abnormalities, as well as family history (6).. Arrhythmogenic RV dysplasia/cardiomyopathy is a genetic disorder transmitted with reduced penetrance and variable expressivity. To date, 6 genes have been identified with mutations causing ARVD/C. Both ...
http://www.onlinejacc.org/content/48/7/1416
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors?<...
TY - JOUR. T1 - Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy. T2 - What are the risk factors?. AU - Kimura, Yoshitaka. AU - Noda, Takashi. AU - Matsuyama, Taka aki. AU - Otsuka, Yosuke. AU - Kamakura, Tsukasa. AU - Wada, Mitsuru. AU - Ishibashi, Kohei. AU - Inoue, Yuko. AU - Miyamoto, Koji. AU - Okamura, Hideo. AU - Nagase, Satoshi. AU - Aiba, Takeshi. AU - Kamakura, Shiro. AU - Noguchi, Teruo. AU - Anzai, Toshihisa. AU - Satomi, Kazuhiro. AU - Wada, Yuko. AU - Ohno, Seiko. AU - Horie, Minoru. AU - Shimizu, Wataru. AU - Yasuda, Satoshi. AU - Shimokawa, Hiroaki. AU - Kusano, Kengo. N1 - Publisher Copyright: © 2017 Elsevier B.V. Copyright: Copyright 2018 Elsevier B.V., All rights reserved.. PY - 2017/8/15. Y1 - 2017/8/15. N2 - Background We previously demonstrated that heart failure (HF) was one of the major causes of death in arrhythmogenic right ventricular cardiomyopathy (ARVC). The purpose of this study was to elucidate the clinical impact and risk factors of ...
https://tohoku.pure.elsevier.com/en/publications/heart-failure-in-patients-with-arrhythmogenic-right-ventricular-c
Arrhythmogenic right ventricular cardiomyopathy: Treatment and prognosisArrhythmogenic right ventricular cardiomyopathy: Treatment and prognosis
Arrhythmogenic right ventricular cardiomyopathy (ARVC), also called arrhythmogenic right ventricular dysplasia (ARVD), is an underrecognized clinical entity manifested by ventricular arrhythmias and a specific ventricular pathology. It is characteriz
https://www.uptodate.com/contents/arrhythmogenic-right-ventricular-cardiomyopathy-treatment-and-prognosis
KEGG PATHWAY: Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGG PATHWAY: Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate ...
https://www.kegg.jp/kegg-bin/show_pathway?ko05412
Cardiac sarcoidosis masquerading as right ventricular dysplasia<...
TY - JOUR. T1 - Cardiac sarcoidosis masquerading as right ventricular dysplasia. AU - Ott, Peter -. AU - Marcus, Frank I.. AU - Sobonya, Richard E. AU - Morady, Fred. AU - Knight, Bradley P.. AU - Fuenzalida, Charles E.. PY - 2003/7/1. Y1 - 2003/7/1. N2 - Patients with cardiac sarcoidosis may present with clinical and morphological features similar to arrhythmogenic right ventricular dysplasia (ARVD) or cardiomyopathy (ARVC). Three cases of cardiac sarcoidosis are presented that clinically mimicked ARVD or ARVC until a pathology diagnosis of sarcoidosis was made at biopsy or autopsy. A diagnostic distinction, while often difficult to make, is important since treatment with corticosteroids may benefit those with sarcoidosis but is not expected to be useful in cases with ARVD or ARVC.. AB - Patients with cardiac sarcoidosis may present with clinical and morphological features similar to arrhythmogenic right ventricular dysplasia (ARVD) or cardiomyopathy (ARVC). Three cases of cardiac sarcoidosis ...
https://arizona.pure.elsevier.com/en/publications/cardiac-sarcoidosis-masquerading-as-right-ventricular-dysplasia
A rare cause of cyanosis and hypoxia that should not be forgotten after implantable cardioverter defibrillator implantation |...A rare cause of cyanosis and hypoxia that should not be forgotten after implantable cardioverter defibrillator implantation |...
Transvenous pacemaker or implantable cardio-verter defibrillator (ICD) implantation procedures are usually performed under local anesthetic, and prilocaine is the most common agent to be used. The data regarding methemoglobinemia after cardiac device implantation are scarce. Thus, presently described is the case of a 47-year-old female patient with arrhythmogenic right ventricular cardiomyopathy/dysplasia who underwent ICD implantation for secondary prophylaxis and developed cyanosis as a result of prilocaine-associated methemoglobinemia. Prilocaine was administered during the procedure. To our knowledge, this is the second case in the literature presenting methemoglobinemia due to local anesthetic after transvenous cardiac device implantation. ...
https://avesis.hacettepe.edu.tr/yayin/72479f8a-66d1-42f4-85e7-f6b2a0d3567f/a-rare-cause-of-cyanosis-and-hypoxia-that-should-not-be-forgotten-after-implantable-cardioverter-defibrillator-implantation
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |...Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy |...
J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan, Roselie Jongbloed, Ans C.P. Wiesfeld, Arthur A.M. Wilde, Jasper van der Smagt, Ludolf G. Boven, Marcel M.A.M. Mannens, Irene M. van Langen, Robert M.W. Hofstra, Luuk C. Otterspoor, Pieter A.F.M. Doevendans, Luz-Maria Rodriguez, Isabelle C. van Gelder and Richard N.W. Hauer ...
http://circ.ahajournals.org/content/early/2006/03/27/CIRCULATIONAHA.105.609719
Comparison of patients with early phase arrhythmogenic right ventricular cardiomyopathy and right ventricular outflow tract...
Aims: Differentiation between early-phase arrhythmogenic right ventricular cardiomyopathy (ARVC) and right ventricular outflow tract (RVOT)-ventricular tachycardia (VT) can be challenging, and correct diagnosis is important. We compared electrocardiogram (ECG) parameters and morphological right ventricular (RV) abnormalities and investigated if ECG and cardiac imaging can help to discriminate early-phase ARVC from RVOT-VT patients. Methods and results: We included 44 consecutive RVOT-VT (47+14 years) and 121 ARVC patients (42+17 years). Of the ARVC patients, 77 had definite ARVC and 44 had early-phase ARVC disease. All underwent clinical examination, ECG, and Holter monitoring. Frequency of premature ventricular complexes (PVC) was expressed as percent per total beats/24 h (%PVC), and PVC configuration was recorded. By echocardiography, we assessed indexed RV basal diameter (RVD), indexed RVOT diameter, and RV and left ventricular (LV) function. RV mechanical dispersion (RVMD), reflecting RV ...
https://www.duo.uio.no/handle/10852/58982
Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in...Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in...
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized by fibrofatty replacement and ventricular arrhythmias. ARVC is believed to be a disease of the young, with most cases being diagnosed before the age of 40 years. We report here a case of newly diagnosed ARVC in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene (PKP2). An 80-year-old Japanese man was referred for sustained ventricular tachycardia. His baseline electrocardiogram showed negative T waves in V1-V4. Right ventriculography showed right ventricular aneurysm. Because this case met three major criteria, ARVC was diagnosed. He was successfully treated with radiofrequency ablation and oral amiodarone. Genetic analysis identified an insertion mutation in exon 8 of PKP2 (1725_1728dupGATG), which caused a frameshift and premature termination of translation (R577DfsX5). To the best of our knowledge, this is the first report of newly diagnosed ARVC in an octogenarian
https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-019-1018-2
Arrhythmogenic right ventricular dysplasia.
Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy and is also called ARVD/C. In most cases, ARVD is inherited in an autosomal-dominant pattern and clinically is characterized by ventricular arrhythmias with an increased
http://www.biomedsearch.com/nih/Arrhythmogenic-right-ventricular-dysplasia/23453020.html
Quantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasiaQuantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasia
Temporal signal averaging of the surface QRS (VI + V3 + V5) was performed in 16 patients with arrhythmogenic right ventricular dysplasia and in 16 normal subjects. The differences between ARVD patients and normals were large for the filtered QRS duration (FQRSd) (146.2±18.9 vs. 91.8±4.1ms, P,000001), the late potential duration (LPd) (83.5±23.3 ms vs. 23.6±4.6ms, P, 0.00001), the LPd/ FQRSd ratio (53.9± 10.1% vs. 25.8±5.1%, P ,0.00001), the filtered QRS amplitude (234.0±61.1μV vs. 429±942 fiV, P ,0001), and the root mean square voltage of the signals in the terminal 40 and 50 ms of the FQRS (RMS40 and RMS50) (18.4± 10.0μV vs. 118.4±49.8p.V, P,0.0005 and 27.9± 19.2μV vs. 217.0±66.3fiV, P,0000002). RMS50 ,40μV discriminated best between ARVD and normals (81% sensitivity and 100% specificity). The right-sided predominance of the abnormalities in ARVD was demonstrated by the significantly longer FQRSd and LPd, and the higher ratio LPd/FQRSd in right than in left precordial leads. The ...
http://uu.diva-portal.org/smash/record.jsf?pid=diva2:97284
Arrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12 symptoms & causes - FDNA TelehealthArrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12 symptoms & causes - FDNA Telehealth
What is Arrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12? FDNA Telehealths complete guide to rare disease causes, symptoms, testing, and diagnosis.
https://fdna.health/syndromes/arrhythmogenic-right-ventricular-dysplasia-familial-12-arvd12
Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia is when the muscle tissue in the right ventricle of the heart dies and is replaced with fat and/or fibrous tissue thus disrupting the electrical signals of the heart and causes arrhythmias. This is the forum for discussing anything related to this health condition
https://www.healthician.org/forumdisplay.php?200-Arrhythmogenic-Right-Ventricular-Dysplasia&s=eb5402ade7ef3f4888d47864d912dfe3
Electrocardiographic patterns of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathyElectrocardiographic patterns of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy
Author(s): Scheinman, Melvin; Hoffmayer, KS; Scheinman, MM | Abstract: Ventricular arrhythmias in patients with ARVD/C are common. Differentiation between idiopathic VT and ARVD is of utmost importance. Baseline sinus rhythm electrocardiography as well as electrocar- diographic differences during ventricular arrhythmias (VT o
https://escholarship.org/uc/item/0zs4r4f9
Right ventricular dysplasia: a report of 24 adult cases. | CirculationRight ventricular dysplasia: a report of 24 adult cases. | Circulation
Right ventricular dysplasia is characterized by an abnormality in the development of part of the right ventricular musculature. Patients with right ventricular dysplasia may present with ventricular tachycardia, supraventricular arrhythmias, right-heart failure or asymptomatic cardiomegaly. Twenty-two adult patients with right ventricular dysplasia who had recurrent ventricular tachycardia were seen during a 7-year period. The male/female ratio was 2.7:1. The mean age at the time of hospitalization was 39 years. All but one of the patients had ventricular tachycardia of a left bundle branch block configuration. With few exceptions, the T waves were inverted over the right precordial leads. The heart was usually enlarged and the pulmonary vasculature was usually normal. In six patients who had two-dimensional echocardiograms, all showed increased right ventricular diastolic dimensions. All patients had right ventricular angiography; the diagnosis of right ventricular dysplasia was substantiated ...
http://circ.ahajournals.org/content/65/2/384.long
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations - MDC...Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations - MDC...
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder mainly caused by dominant mutations in several components of the cardiac desmosome including plakophilin-2 (PKP2) - the most prevalent disease gene. Little is known about the underlying genetic and molecular mechanisms of missense mutations located in the armadillo (ARM) domains of PKP2 as well as their consequences on human cardiac pathology. METHODS AND RESULTS: We focused on in vivo and in vitro studies of the PKP2 founder mutation c.2386T,C (p.C796R) and demonstrated in cardiac tissue from two related mutation carriers a patchy expression pattern ranging from unchanged to totally absent immunoreactive signals of PKP2 and other desmosomal proteins. In vitro expression analysis of mutant PKP2 in cardiac derived HL-1 cells revealed unstable proteins which fail to interact with desmoplakin and are targeted by degradation involving calpain proteases. Bacterial expression, crystallization and ...
https://edoc.mdc-berlin.de/12447/
Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular CardiomyopathyFunctional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy
Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. Methods: To determine the frequency of TMEM43 mutations as a cause of ARVC, we screened 11 ARVC families for mutations in TMEM43 and five desmosomal genes previously implicated in the disease. Functional studies were performed in COS-7 cells transfected with wildtype, mutant, and 1:2 wildtype:mutant TMEM43 to determine the effect of the Ser358Leu mutation on the stability and cellular localization of TMEM43 and other nuclear envelope and desmosomal proteins, assessed by solubility assays and immunofluorescence imaging. mRNA expression was assessed of genes potentially affected by dysfunction of the nuclear lamina. Results: Three novel mutations in previously documented desmosomal genes, but no mutations in TMEM43, were identified. COS-7 cells transfected with ...
https://dash.harvard.edu/handle/1/10382935
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. - Oxford...
AIMS: Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood. METHODS AND RESULTS: We have identified novel mutations in the desmosomal cadherin desmocollin 2 (DSC2 R203C, L229X, T275M, and G371fsX378). The two missense mutations (DSC2 R203C and T275M) have been functionally characterized, together with a previously reported frameshift variant (DSC2 A897fsX900), to examine their pathogenic potential towards PGs functions at the ID. The three mutant proteins were transiently expressed in various cellular systems and assayed for expression, processing, localization, and binding to other desmosomal components in comparison to wild-type DSC2a protein. The two missense mutations showed defects in proteolytic cleavage, a process which is required for the functional
https://www.cardioscience.ox.ac.uk/publications/259949/
Arrhythmogenic Right Ventricular Cardiomyopathy - Cardiomyopathy - Cardiovascular Diseases - Diseases - McMaster Textbook of...
Definition, Etiology, PathogenesisTop. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disease involving mainly the right ventricle. It is caused by the gradual replacement of myocardial fibers by fatty and fibrous tissue, particularly in the right ventricular inflow, outflow, and apex, which leads to a propensity to ventricular arrhythmias and sudden cardiac death. Morphologic and functional changes can also occur in the left ventricle (LV), producing a phenotype similar to dilated cardiomyopathy. Causes: Gene mutations, which are usually autosomal dominant.. Clinical Features and Natural HistoryTop. 1. History: ARVC usually presents in young adult men. The first symptom is a brief loss of consciousness caused by ventricular arrhythmia. Sudden cardiac death may occur.. 2. Risk factors of sudden cardiac death include a young age, history of syncope, cardiac arrest or hemodynamically significant ventricular tachycardia, LV involvement, significant right ventricular damage, ...
https://empendium.com/mcmtextbook/chapter/B31.II.2.16.4..html
iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)...
|jats:p|Desmosomes are anchoring junctions that exist in cells that endure physical stress such as cardiac myocytes. The importance of desmosomes in maintaining the homeostasis of the myocardium is underscored by frequent mutations of desmosome components found in human patients and animal models. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a phenotype caused by mutations in desmosomal components in ∼50% of patients, however, the causes in the remaining 50% of patients still remain unknown. A deficiency of inhibitor of apoptosis-stimulating protein of p53 (iASPP), an evolutionarily conserved inhibitor of p53, caused by spontaneous mutation recently has been associated with a lethal autosomal recessive cardiomyopathy in Poll Hereford calves and Wa3 mice. However, the molecular mechanisms that mediate this putative function of iASPP are completely unknown. Here, we show that iASPP is expressed at intercalated discs in human and mouse postmitotic cardiomyocytes. iASPP interacts with
https://www.ludwig.ox.ac.uk/research/publications/507949
ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy) CureARVC (Arrhythmogenic Right Ventricular Cardiomyopathy) Cure
ARVC or arrhythmogenic right ventricular cardiomyopathy is a rare illness. The occurrence of the same makes it impossible for an individual to recover completely.
https://www.epainassist.com/chest-pain/heart/arvc-arrhythmogenic-right-ventricular-cardiomyopathy-cure
108 ACUTE RIGHT VENTRICULAR CARDIOMYOPATHY IN PATIENTS WITH SEVERE SEPSIS | Heart108 ACUTE RIGHT VENTRICULAR CARDIOMYOPATHY IN PATIENTS WITH SEVERE SEPSIS | Heart
Conclusions and implications Acute ventricular cardiomyopathy is a common complication of severe sepsis and is difficult to diagnose using standard invasive cardiac output devices commonly used within critical care areas. Trans thoracic echocardiography presents a point of care diagnostic modality that allows rapid, repeatable, reliable assessment of independent ventricular function. Low cardiac output states seen with acute dilated right ventricular cardiomyopathy appear to show little benefit from fluid boluses and poor response to standard pharmacological strategies for septic shock. In the two patients requiring invasive ventilation, death followed within 72 h of diagnosis of right ventricular cardiomyopathy. Surveillance scanning for a impaired and/or dilated right ventricle may allow earlier detection and exploration of alternative treatment strategies. Respiratory failure in severe septic shock associated with right ventricular cardiomyopathy appears to confer a significant increased ...
http://heart.bmj.com/content/99/suppl_2/A67.2
Arrhythmogenic Right Ventricular CardiomyopathyArrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular dysplasia (or ARVD) is a disease of the heart muscle. In this disease, fatty fibrous tissue replaces normal heart muscle. This interrupts normal electrical signals in the heart and may cause irregular and potentially life-threatening heart rhythms. The heart also becomes weaker over time leading to heart failure.
http://healthlibrary.somc.org/Library/DiseasesConditions/Adult/134,506
Adult Disease Model from iPSC Progeny | Stem Cells PortalAdult Disease Model from iPSC Progeny | Stem Cells Portal
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. Modelling genetic disorders using induced pluripotent stem cells (iPSCs) is an emerging tool for researchers; however cells derived from iPSCs, such as cardiomyocytes (CMs), have not yet been qualified as useful models of adult disease phenotypes. Now researchers from the group of Huei-Sheng Vincent Chen at the Sanford-Burnham Medical Research Institute, California, USA have studied the inherited heart disease arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) (Calkins and Marcus) an inherited heart disease characterized by pathological fatty infiltration and cardiomyocyte loss in the right ventricle. From patient-specific mutation bearing fibroblasts they generated iPSCs and subsequently iPSC-CMs; finding that induction of adult-like metabolism has a critical role in establishing an adult-onset disease model (Kim et al).. Using fibroblasts taken from a patient with clinical ARVD/C and a homozygous ...
https://stemcellsportal.com/content/adult-disease-model-ipsc-progeny
Lamr1 functional retroposon causes right ventricular dysplasia in mice | Nature GeneticsLamr1 functional retroposon causes right ventricular dysplasia in mice | Nature Genetics
Arrhythmogenic right ventricular dysplasia (ARVD) is a hereditary cardiomyopathy that causes sudden death in the young. We found a line of mice with inherited right ventricular dysplasia (RVD) caused by a mutation of the gene laminin receptor 1 (Lamr1). This locus contained an intron-processed retroposon that was transcribed in the mice with RVD. Introduction of a mutated Lamr1 gene into normal mice by breeding or by direct injection caused susceptibility to RVD, which was similar to that seen in the RVD mice. An in vitro study of cardiomyocytes expressing the product of mutated Lamr1 showed early cell death accompanied by alteration of the chromatin architecture. We found that heterochromatin protein 1 (HP1) bound specifically to mutant LAMR1. HP1 is a dynamic regulator of heterochromatin sites, suggesting that mutant LAMR1 impairs a crucial process of transcriptional regulation. Indeed, mutant LAMR1 caused specific changes to gene expression in cardiomyocytes, as detected by gene chip analysis. Thus,
https://www.nature.com/articles/ng1294?error=cookies_not_supported&code=bc045b1d-4035-48b5-bec6-a5a9a9232e6d
Statistical evaluation of reproducibility of automated ECG measurements: An example from arrhythmogenic right ventricular...Statistical evaluation of reproducibility of automated ECG measurements: An example from arrhythmogenic right ventricular...
TY - JOUR. T1 - Statistical evaluation of reproducibility of automated ECG measurements. T2 - An example from arrhythmogenic right ventricular dysplasia/cardiomyopathy clinic. AU - Huang, Timothy. AU - James, Cynthia A.. AU - Tichnell, Crystal. AU - Murray, Brittney. AU - Xue, Joel. AU - Calkins, Hugh. AU - Tereshchenko, Larisa G.. N1 - Funding Information: Study was partially supported by Dr. Francis P. Chiaramonte Private Foundation , the St. Jude Medical Foundation and Medtronic Inc. The Johns Hopkins ARVD/C Program is supported by the Bogle Foundation , the Healing Hearts Foundation , the Campanella family , and the Wilmerding Endowments . This work was partially supported by the National Institutes of Health (R01 HL118277) to Tereshchenko. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Funding Information: The authors wish to acknowledge funding from the Dr. Francis P. Chiaramonte Private Foundation, the St. Jude ...
https://ohsu.pure.elsevier.com/en/publications/statistical-evaluation-of-reproducibility-of-automated-ecg-measur-2
Predictors of Adverse Outcomes in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy: A Meta-Analysis of...Predictors of Adverse Outcomes in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy: A Meta-Analysis of...
Arrhythmogenic cardiomyopathy (AC) is a hereditary disorder characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle. Our study aimed to systematically evaluate the impact of significant demographic, clinical, electrocardiographic, and echocardiographic factors in arrhythmic events in AC patients. MEDLINE and Cochrane library databases were manually searched without year or language restriction or any other limits until July 31, 2017. A pooled odds ratio with 95% confidence intervals was calculated for each of the risk factors. Our search retrieved 26 studies (n = 2680 patients, mean age: 37.9 years old, males: 51.9%) which were included in the quantitative synthesis. The most reliable predicting factors/parameters are the following: (1) male gender, (2) presyncope, (3) left ventricular dysfunction, (4) T-wave inversions in inferior leads, (5) proband status, (6) late potentials, (7) syncope, (8) inducibility at ...
https://www.ktsioufis.com/?p=4901
Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy | Science...Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy | Science...
Myocyte death occurs in many inherited and acquired cardiomyopathies, including arrhythmogenic cardiomyopathy (ACM), a genetic heart disease plagued by the prevalence of sudden cardiac death. Individuals with ACM and harboring pathogenic desmosomal variants, such as desmoglein-2 (DSG2), often show myocyte necrosis with progression to exercise-associated heart failure. Here, we showed that homozygous Dsg2 mutant mice (Dsg2mut/mut), a model of ACM, die prematurely during swimming and display myocardial dysfunction and necrosis. We detected calcium (Ca2+) overload in Dsg2mut/mut hearts, which induced calpain-1 (CAPN1) activation, association of CAPN1 with mitochondria, and CAPN1-induced cleavage of mitochondrial-bound apoptosis-inducing factor (AIF). Cleaved AIF translocated to the myocyte nucleus triggering large-scale DNA fragmentation and cell death, an effect potentiated by mitochondrial-driven AIF oxidation. Posttranslational oxidation of AIF cysteine residues was due, in part, to a depleted ...
https://stm.sciencemag.org/content/13/581/eabf0891?utm_campaign=toc_stm_2021-02-17&et_rid=79465108&et_cid=3669680
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms -...Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms -...
Mutations in the gene for desmoplakin (DSP) may cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and Carvajal syndrome (CS). Desmoplakin is part of all desmosomes, which are abundantly expressed in both myocardial and epidermal tissue and serve as intercellular mechanical junctions. This study aimed to investigate protein expression in myocardial and epidermal tissue of ARVC and CS patients carrying DSP mutations in order to elucidate potential molecular disease mechanisms. Genetic investigations identified three ARVC patients carrying different heterozygous DSP mutations in addition to a homozygous DSP mutation in a CS patient. The protein expression of DSP in mutation carriers was evaluated in biopsies from myocardial and epidermal tissue by immunohistochemistry. Keratinocyte cultures were established from skin biopsies of mutation carriers and characterized by reverse transcriptase polymerase chain reaction, western blotting, and protein mass spectrometry. The results showed that ...
http://www.forskningsdatabasen.dk/catalog/242279975
Arrhythmogenic right ventricular dysplasia - CheckOrphanArrhythmogenic right ventricular dysplasia - CheckOrphan
ARVD is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVD could be caused by an infection of the heart muscle. The genetic basis of ARVD is complex and not fully understood. There are different ways in which ARVD can be inherited. The most common pattern of inheritance for ARVD is autosomal dominant. This means that a mutation in only one copy of the disease-causing gene is sufficient to cause the condition. An individual with an autosomal dominant condition has a 50% risk to pass the mutation on to each child. Other individuals with ARVD have an autosomal recessive form. This means mutations in both copies of the gene must be present to have a predisposition to ARVD. Parents of an individual with an autosomal recessive condition each carry one mutated copy of the gene and are referred to as carriers. When two carriers of an autosomal recessive condition have children, each child has a 25% risk to inherit ...
https://checkorphan.org/disease/arrhythmogenic-right-ventricular-dysplasia/
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right...Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right...
BACKGROUND: Previous studies suggested that electrical abnormalities precede overt structural disease in arrhythmogenic right ventricular cardiomyopathy (ARVC). Abnormal RV deformation has been reported in early ARVC without structural abnormalities. The pathophysiological mechanisms underlying these abnormalities remain unknown. OBJECTIVES: The authors used imaging and computer simulation to differentiate electrical from mechanical ... read more tissue substrates among ARVC clinical stages. METHODS: ARVC desmosomal mutation carriers (n = 84) were evaluated by electrocardiography (ECG), Holter monitoring, late-enhancement cardiac magnetic resonance imaging, and echocardiographic RV deformation imaging. Subjects were categorized based on the presence of 2010 International Task Force criteria: 1) subclinical stage (n = 21); 2) electrical stage (n = 15); and 3) structural stage (n = 48). Late enhancement was not present in any subclinical or electrical stage subjects. RESULTS: Three distinctive ...
https://dspace.library.uu.nl/handle/1874/343069
Boxer cardiomyopathy - WikipediaBoxer cardiomyopathy - Wikipedia
Boxer cardiomyopathy (also known as Boxer arrhythmogenic right ventricular cardiomyopathy) is a disease of the myocardium primarily affecting Boxer dogs. It is characterized by the development of ventricular tachyarrhythmias, resulting in syncope and sudden cardiac death. Myocardial failure and congestive heart failure are uncommon manifestations of the disease. Boxer cardiomyopathy shares striking similarities to a human myocardial disease called arrhythmogenic right ventricular cardiomyopathy (ARVC). On histopathology, the disease is characterized by the progressive replacement of ventricular myocardium (primarily right ventricular myocardium) with fatty or fibro-fatty tissue. Clinically, the disease is characterized by the development of ventricular tachyarrhythmias, including ventricular tachycardia and ventricular fibrillation. Affected dogs are at risk of syncope and sudden cardiac death. Boxer cardiomyopathy is a genetic disease inherited in an autosomal dominant pattern. The ...
https://en.wikipedia.org/wiki/Boxer_cardiomyopathy
Exercise-induced right ventricular dysplasia/cardiomyopathy--an emerging condition distinct from arrhythmogenic right...Exercise-induced right ventricular dysplasia/cardiomyopathy--an emerging condition distinct from arrhythmogenic right...
We report a case of a 32-year-old female world champion triathlete who developed exercise induced recurrent ventricular tachycardia (VT). Investigations supported a diagnosis of the newly recognised condition exercise induced right ventricular dysplasia/cardiomyopathy (EIRVD/C). The VT could be ea …
https://pubmed.ncbi.nlm.nih.gov/18396459/?dopt=Abstract
Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation
The patient received a single-chamber implantable cardioverter-defibrillator (ICD), which was implanted without complications.. The patient was advised to limit physical exertion and was prescribed beta-blockers (bisoprolol 2.5 mg daily) in addition to his usual medication.. He remained asymptomatic and tolerated the ICD well. Genetic study and electrocardiographic and echocardiographic monitoring have been recommended for his offspring.1,2. DiscussionEpidemiology. There are limited epidemiologic data on ARVD. Its prevalence in the general population is between 1/2000 and 1/5000, with males being affected more often than females (3:1). Its incidence ranges between 1/1000 and 1/50 000, with considerable geographic variability.3-5. In most cases (80%) ARVD is diagnosed before the age of 40. Worldwide, it is identified as the cause of sudden cardiac death in young adults in 5-11% of cases. In a study in northern Italy it was the leading cause (22.4%) of sudden death in young athletes.6. ARVD should ...
http://elsevier.pt/en/revistas/revista-portuguesa-cardiologia-english-edition--434/artigo/arrhythmogenic-right-ventricular-dysplasia-atypical-clinical-presentation-S2174204917300247
Usefulness of electrophysiologic study and endomyocardial biopsy in differentiating arrhythmogenic right ventricular dysplasia...
Fifteen patients with right ventricular tachycardia without evidence of coronary artery disease or dilated or hypertrophic cardiomyopathy were evaluated, by means of electrophysiologic study and right ventricular endomyocardial biopsy. Six cases were
http://www.biomedsearch.com/nih/Usefulness-electrophysiologic-study-endomyocardial-biopsy/2093717.html
Potentially Lethal Ventricular Arrhythmias and Heart Failure in Arrhythmogenic Right Ventricular Cardiomyopathy | JACC:...Potentially Lethal Ventricular Arrhythmias and Heart Failure in Arrhythmogenic Right Ventricular Cardiomyopathy | JACC:...
Our data showed that female sex was a risk factor of HF-related clinical deterioration and death in ARVC. HF is an important determinant of clinical prognosis in ARVC patients. In the previous study of the natural history of 130 cases with ARVC, Hulot et al. (35) reported that 24 patients died during the follow-up period and that 59% of these deaths were related to progressive HF. In our study, the incidences of HF death and heart transplantation due to HF were significantly higher in female than in male patients. Furthermore, female sex was an independent predictor of HF-related death or heart transplantation.. One possible mechanism for the sex-based differences is related to the reaction to volume overload and influence of thoracic size. Fitzpatrick et al. (36) analyzed a series of 266 LV assist device recipients and found that a biventricular assist device was required more commonly for female patients (p = 0.001) and for those with smaller BSA (p = 0.003). Ochiai et al. (37) also reported ...
https://electrophysiology.onlinejacc.org/content/2/5/546
Unusual Presentation of Cardiac Sarcoidosis - Tandri - 2007 - Congestive Heart Failure - Wiley Online LibraryUnusual Presentation of Cardiac Sarcoidosis - Tandri - 2007 - Congestive Heart Failure - Wiley Online Library
A 46-year-old white woman presented to the emergency department with hemodynamically stable sustained ventricular tachycardia (VT). She was chemically cardioverted with lidocaine. Her electrocardiogram, showing sinus rhythm, was unremarkable, and serial cardiac enzyme tests excluded myocardial infarction. A signal-averaged electrocardiogram was abnormal, with a filtered QRS duration of 187 milliseconds. Echocardiography showed normal left and right ventricular systolic function but revealed diastolic dysfunction of the left ventricle. Electrophysiologic testing revealed easily inducible sustained VT of 4 distinct morphologies. A diagnosis of possible arrhythmogenic right ventricular dysplasia was made based on the signal-averaged electrocardiographic and electrophysiologic findings. Cardiac magnetic resonance imaging showed no evidence of arrhythmogenic right ventricular dysplasia, however. An endomyocardial biopsy revealed noncaseating granulomas consistent with sarcoidosis. This case ...
http://onlinelibrary.wiley.com/doi/10.1111/j.1527-5299.2007.06391.x/abstract
Submissions for variant NM 004572.3(PKP2):c.14del (p.Gly5fs) (rs397516996) - ClinVar MinerSubmissions for variant NM 004572.3(PKP2):c.14del (p.Gly5fs) (rs397516996) - ClinVar Miner
Variant summary: PKP2 c.14delG (p.Gly5AlafsX34) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Arg79X and p.Gln133X). The variant was absent in 30714 control chromosomes. c.14delG has been reported in the literature in one individual affected with Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Another clinical diagnostic laboratory has submitted assessment for this variant to ClinVar before 2014 without evidence ...
https://clinvarminer.genetics.utah.edu/submissions-by-variant/NM_004572.3%28PKP2%29%3Ac.14del%20%28p.Gly5fs%29
ARVD | Asper Biogene
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel of 14 genes is now available. For further information see Asper Cardiogenetics/ARVD. ...
https://www.asperbio.com/tag/arvd/
Appropriate and Inappropriate Implantable Cardioverter Defibrillators Therapies in Arrhythmogenic Right Ventricular...Appropriate and Inappropriate Implantable Cardioverter Defibrillators Therapies in Arrhythmogenic Right Ventricular...
Appropriate and Inappropriate Implantable Cardioverter Defibrillators Therapies in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Patients
https://cardiologyres.org/index.php/Cardiologyres/article/view/734/808
Arrhythmogenic right ventricular cardiomyopathy and sick sinus syndrome : a potential overlap syndrome | Amrita Vishwa...Arrhythmogenic right ventricular cardiomyopathy and sick sinus syndrome : a potential overlap syndrome | Amrita Vishwa...
Introduction -. Abnormalities of desmosomes, more specifically mutations in the desmoplakin (DSP) gene, have been shown to cause not only arrhythmogenic right ventricular cardiomyopathy (ARVC) but also sick sinus syndrome (SSS) as well. Although various ARVC overlap syndromes have been described, its association with sinus node dysfunction is not documented. In this report, we describe an autosomal dominant missense mutation in the DSP gene in a proband with sick sinus syndrome and features of ARVC on cardiac MRI.. Clinical case -. A 70 year old man presented with a recurrent episodes of syncope, that were historically suggestive of an arrhythmic etiology. He had a history of systemic hypertension which was under adequate control with ACE inhibitors. His 2D Echocardiogram (ECHO) revealed a structurally normal heart. During his evaluation of syncope, his baseline electrocardiogram (ECG), head up tilt test, brain imaging, and electroencephalography were non-contributory. Cardiac MRI(CMR) ...
https://www.amrita.edu/publication/arrhythmogenic-right-ventricular-cardiomyopathy-and-sick-sinus-syndrome-potential
Naxos syndrome - WikipediaNaxos syndrome - Wikipedia
Naxos disease (also known as Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy, Diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy firstly described in Naxos island by Dr Nikos Protonotarios, and Naxos disease) is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is about 1 person in 1000 in the Hellenic islands. It has been associated with mutations in the genes encoding desmoplakin and plakoglobin. Olmsted syndrome List of cutaneous conditions List of conditions caused by problems with junctional proteins Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. McKoy G, Protonotarios N, Crosby A, et al. (June 2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. ...
https://en.wikipedia.org/wiki/Naxos_syndrome
Ventricular Tachycardia due to Arrhythmogenic Right Ventricular Dysplasia (ARVD) - EM Sim CasesVentricular Tachycardia due to Arrhythmogenic Right Ventricular Dysplasia (ARVD) - EM Sim Cases
A 26-year-old man who suffered a syncopal event while playing soccer presents to the emergency department with a stable wide-complex tachycardia (WCT). The patient must be treated with an antiarrhythmic medication or by synchronized cardioversion. The patient later deteriorates into an unstable WCT and then ventricular fibrillation requiring advanced cardiac life support (ACLS) and defibrillation.
https://emsimcases.com/2015/04/14/ventricular-tachycardia-due-to-arrhythmogenic-right-ventricular-dysplasia-arvd/
Transforming growth factor beta-3Transforming growth factor beta-3
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016 ...
https://pharos.nih.gov/idg/targets/P10600
Wiley-VCH - Cardiology Board ReviewWiley-VCH - Cardiology Board Review
Features cases on aortic insufficiency, atrial fibrillation, Brugada syndrome, carotid artery disease, myocardial bridging, congenital heart disease, electrolyte abnormalities, apical HCM, mitral regurgitation, RV outflow tract tachycardia, pulmonary hypertension, arrhythmogenic right ventricular dysplasia, aortic stenosis, atrial myxoma, atrial tachycardia, pulmonic insufficiency, Takotsubo, tricuspid regurgitation, Wolfe-Parkinson-White syndrome, pulmonic stenosis, coronary anomalies, ECG changes of hypothermia, endocarditis, pulmonary embolus, ventricular septal defect, hemodynamics of hypertrophic cardiomyopathy, complete heart block, heart failure, coronary artery disease, atrial septal defect, constrictive pericarditis, fractional flow reserve, dextrocardia, STEMI, early repolarization, giant cell myocarditis, peripheral arterial disease, pericardial tamponade, peripheral arterial disease, pericarditis, myocarditis, long QT syndrome, mitral stenosis, tetralogy of Fallot, and ...
https://www.wiley-vch.de/de?option=com_eshop&view=product&isbn=9781119423232&title=Cardiology%20Board%20Review
Insights into molecular and functional mechanisms behind inherited heart and skin disorders.Insights into molecular and functional mechanisms behind inherited heart and skin disorders.
Desmosomes are macromolecular, dynamic and adaptable complexes that connect intermediate filaments of neighboring cells in a variety of tissues, generating a large mechanically resilient structure. The importance of maintaining desmosome homeostasis for tissue integrity and optimal organ function has been revealed through the identification of desmosome-associated disorders and mechanistic studies into desmosome regulation. This thesis focuses on inherited skin and heart conditions linked to mutations in desmosomal genes or in genes believed to be implicated in desmosome regulation. Part of this thesis is focused on the molecular analysis and identification of novel desmosomal mutations in patients clinically diagnosed with Arrhythmogenic Right Ventricular Cardiomyopathy, and the genetic diagnosis of patients with hypotrichosis, hypotrichosis and PPK or acral peeling skin syndrome. Patients were analysed using a number of different genetic techniques including custom capture array, HaloPlex ...
https://qmro.qmul.ac.uk/xmlui/handle/123456789/8911
Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in...Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in...
Ca2+ release from the sarcoplasmic reticulum mediated by the cardiac ryanodine receptor (RyR2) is a fundamental event in cardiac muscle contraction. RyR2 mutations suggested to cause defective Ca2+ channel function have recently been identified in catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) affected individuals. We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum. N4104K also localized to the Golgi apparatus. Phenotypic characteristics including intracellular Ca2+ handling, proliferation, viability, RyR2:FKBP12.6 interaction, and beat rate in resting HL-1 cells expressing mutant hRyR2 were indistinguishable from wild-type (WT) hRyR2. However, Ca2+ release was augmented in cells expressing mutant hRyR2 after RyR activation (caffeine and 4-chloro-m-cresol) or. ...
http://orca-mwe.cf.ac.uk/30/
Is right bundle branch block related to kidney problem?Is right bundle branch block related to kidney problem?
Question - Is right bundle branch block related to kidney problem?. Ask a Doctor about diagnosis, treatment and medication for Arrhythmogenic right ventricular dysplasia, Ask a Cardiac Surgeon
http://www.healthcaremagic.com/premiumquestions/Is-right-bundle-branch-block-related-to-kidney-problem/4077
Auxiliary diagnostic potential of ventricle geometry and late gadolinium enhancement in left ventricular non-compaction; non...Auxiliary diagnostic potential of ventricle geometry and late gadolinium enhancement in left ventricular non-compaction; non...
Background There are still ambiguities existing in regard to left ventricular non-compaction (LVNC) diagnostic imaging. The aim of our study was to analyze diagnostic potential of late gadolinium enhancement (LGE) and ventricle geometry in patients with LVNC and controls. Methods Data on cardiac magnetic resonance imaging (CMR) studies for LVNC were reassessed from the hospitals database (3.75 years; n=1975 exams). Matching sample of controls included cases with no structural heart disease, hypertrophic or dilative cardiomyopathy, arrhythmogenic right ventricular dysplasia or subacute myocarditis. Eccentricity of the left ventricle was measured at end diastole in the region with pronounced NC and maximal to minimal ratio (MaxMinEDDR) was calculated. Results Study included 255 patients referred for CMR, 100 (39.2%) with LVNC (prevalence in the studied period 5.01%) and 155 (60.8%) controls. Existing LGE had sensitivity of 52.5% (95%-CI:42.3-62.5), specificity of 80.4% (95%-CI:73.2-86.5) for ...
https://repository.medri.uniri.hr/en/islandora/object/medri%3A1924
Arrhythmogenic right ventricular definition | Drugs.comArrhythmogenic right ventricular definition | Drugs.com
Definition of arrhythmogenic right ventricular. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
https://www.drugs.com/dict/arrhythmogenic-right-ventricular.html
Test | Invitae Cardiomyopathy Comprehensive PanelTest | Invitae Cardiomyopathy Comprehensive Panel
Genetic testing for up to 105 genes that cause inherited cardiomyopathy, including arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), and some syndromic causes of cardiomyopathy.
https://www.invitae.com/en/physician/tests/02251/
Cardiogenetics | Research Lines | Department of Genetics | Research | Medical Sciences | About us | University of GroningenCardiogenetics | Research Lines | Department of Genetics | Research | Medical Sciences | About us | University of Groningen
Patients with heart failure can roughly be divided into two groups: those with ventricular dysfunction due to ischaemia and those with a non-ischaemic heart disease. Most of the different forms of cardiomyopathy in the last group can have a distinct cause like hypertension or a valvular heart disease. However in an important subset of these no such cause is identified thereby obtaining the classification idiopathic cardiomyopathy. The familial character of these different forms of idiopathic cardiomyopathy has been recognized in many studies.. Four categories of disease are distinghuised and the basis of haemodynamical and morphological characteristics: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC).. HCM is characterised by (usually asymmetric) left ventricular hypertrophy. In myocardial biopsies, myofibrillar disarray and myocyte hypertrophy is seen. Arrhythmias and premature sudden ...
https://www.rug.nl/research/genetics/research/chronicheartfailure
Most recent papers with the keyword Hemothorax | Read by QxMDMost recent papers with the keyword Hemothorax | Read by QxMD
Background: Epicardial catheter ablation has been shown to be an effective strategy for treating ventricular arrhythmias (VA). We investigated the efficacy and safety from a tertiary referral center in Taiwan. Methods: From 2010 to 2016, patients undergoing epicardial ablation for VAs were consecutively enrolled. The clinical characteristics, disease entity, electrophysiological studies, and ablation outcome were extracted for further analysis. Results: A total of 80 patients were eligible, including 34 patients for arrhythmogenic right ventricular cardiomyopathy (ARVC), 16 for Brugada syndrome (BrS), 13 for idiopathic VAs, 11 for idiopathic dilated cardiomyopathy (IDCM), 2 for ischemic cardiomyopathy, and 4 for other nonischemic cardiomyopathies (NICM ...
https://www.readbyqxmd.com/keyword/14501
83 The Effects of Training and Detraining on T Wave Inversion in a Cohort of Athletes | Heart83 The Effects of Training and Detraining on T Wave Inversion in a Cohort of Athletes | Heart
Purpose T wave inversion (TWI) is the electrical hallmark of cardiac conditions such as hypertrophic cardiomyopathy (HCM) or arrhythmogenic right ventricular cardiomyopathy (ARVC), which may be the substrate for sudden cardiac death in the young athlete. Such repolarization anomalies can feature on the ECG of an apparently healthy athlete and pose major diagnostic dilemmas in sports cardiology, as regular, prolonged high intensity, physical activity is associated with such repolarization changes. Athletes themselves are reluctant to detrain during the season, which makes interpreting any reversible effects of exercise on the ECG more difficult. This study aimed to investigate the effect of detraining on TWI in athletes. ...
http://heart.bmj.com/content/101/Suppl_4/A45.2
Treatment of Feline Myocardial Diseases - WSAVA2013 - VINTreatment of Feline Myocardial Diseases - WSAVA2013 - VIN
Amongst adult cats, myocardial disease (cardiomyopathy) is the most common form of heart disease. Hypertrophic cardiomyopathy (HCM) is identified in over 60% of cardiomyopathic cats, with the rest attributable to dilated cardiomyopathy, restrictive cardiomyopathy (endomyocardial or myocardial), arrhythmogenic right ventricular cardiomyopathy, and unclassified cardiomyopathy.. The criteria by which each form of cardiomyopathy is defined are based on echocardiographically-derived parameters; however, there is some overlap between categories, which results in controversy over the classification of some individuals. Of greater importance for these individuals is correct identification of the type of functional abnormality (e.g., systolic dysfunction, diastolic dysfunction, or both), as this has direct implications for patient management.. While pathophysiology of the feline cardiomyopathies differs, affected cats are at risk for the same three adverse sequelae: congestive failure, thromboembolic ...
https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11372&meta=Generic&id=5709747
BMJ Best PracticeBMJ Best Practice
Figure caption and citation for the preceding image starts]: Sustained (monomorphic) ventricular tachycardia From the collection of Prof Sei Iwai; used with permission [Citation ends]. VT is defined as a wide complex tachycardia (QRS 120 milliseconds or greater) that originates from one of the ventricles, and is not due to aberrant conduction (e.g., from bundle branch block), at a rate of 100 bpm or greater. Idiopathic VT occurs in the absence of apparent structural heart disease (e.g., prior MI, active ischemia, cardiomyopathy, valvular disease, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, or other disorders of the myocardium), known channelopathy (e.g., long QT syndrome, Brugada syndrome, catecholaminergic polymorphic VT, short QT syndrome), drug toxicity, or electrolyte imbalance. VT can be described as monomorphic or polymorphic. Torsades de pointes is a polymorphic VT with a characteristic twisting morphology occurring in the setting of QT interval ...
http://bestpractice.bmj.com/topics/en-us/537
Johns Hopkins Medicine: Find a DoctorJohns Hopkins Medicine: Find a Doctor
Expertise, Disease and Conditions: Adult Congenital Heart Disease, Arrhythmia, Arrhythmogenic Right Ventricular Cardiomyopathy, Bradycardia, Cardiology, Cardiomyopathy, Cardiovascular Medicine, Catheter Ablation, Defibrillators, Family History of Sudden Death, Inherited Arrhythmia Disorders, Long QT Syndrome, Pacemakers, Pediatric Cardiology, Pediatric Congenital Heart Disease, Pediatrics, Supraventricular Tachycardia, Syncope, Tachycardias, Ventricular ...
https://www.hopkinsmedicine.org/profiles/results/directory/?pagecount=50&currpage=1&spec_disease=Pediatrics&CLEARPAGECACHE=false
Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants
Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level. By atomic force microscopy, we demonstrated filament formation defects of desmin mutants, associated with arrhythmogenic right ventricular cardiomyopathy. To understand the pathogenesis of this disease, it is essential to analyze desmin filament structures under conditions in which both healthy and mutant desmin are expressed at equimolar levels mimicking an in vivo situation. Here, we applied dual color photoactivation localization microscopy using photoactivatable fluorescent proteins genetically fused to desmin and characterized the heterozygous status in living cells lacking endogenous desmin. In addition, we applied fluorescence resonance energy transfer to unravel short distance structural patterns of desmin mutants in filaments. For the first time, we ...
https://pub.uni-bielefeld.de/publication/2500819
The Role of Speckle Tracking Echocardiography in the Evaluation of Common Inherited Cardiomyopathies in Children and...The Role of Speckle Tracking Echocardiography in the Evaluation of Common Inherited Cardiomyopathies in Children and...
Speckle tracking echocardiography (STE) has gained importance in the evaluation of adult inherited cardiomyopathies, but its utility in children is not well characterized. We conducted a systematic review to evaluate the role of STE in pediatric inherited cardiomyopathies. PubMed, EMBASE, Web of Science, Scopus, CENTRAL and CINAHL databases were searched up to May 2020, for terms related to inherited cardiomyopathies and STE. Included were dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM). A total of 14 cohorts were identified, of which six were in DCM, four in HCM, three in LVNC and one in ACM. The most commonly reported STE measurements were left ventricular longitudinal strain (Sl), circumferential strain (Sc), radial strain (Sr) and rotation/torsion/twist. Sl, Sc and were abnormal in all DCM and LVNC cohorts, but not in all HCM. Apical rotation and twist/torsion were increased in HCM, and decreased ...
https://ore.exeter.ac.uk/repository/handle/10871/125284
Syncope/Collapse - Veterinary Specialty CenterSyncope/Collapse - Veterinary Specialty Center
Background. Collapse episodes in dogs and cats can be caused by a multitude of reasons that include both cardiac and non-cardiac causes. Non-cardiac causes include neurologic disease (ex: seizures, liver shunts), systemic disease processes (ex: Addisons disease, low blood sugar, anemia), electrolyte abnormalities, and several other disorders. Cardiac causes include arrhythmias (abnormally fast or slow heart rhythms), decreased output from structural heart disease (ex: degenerative valve disease, dilated cardiomyopathy, arrhythmogenic cardiomyopathy), congestive heart failure (CHF), and neurocardiogenic bradycardia (aka vasovagal syncope), a combined cardiac and neurologic disorder.. In many cases, a collapse episode only occurs once, while in other cases the episodes become frequent enough to affect a patients quality of life. The diagnostic workup often includes an echocardiogram, bloodwork, an ECG, and a Holter monitor (24-hour ECG). Often, the only definitive way to determine the cause of a ...
https://www.vetspecialty.com/syncope-collapse/
PHOTO GALLERY<...PHOTO GALLERY<...
Obese, high blood pressure sufferer; patient under oral anticoagulation therapy due to arrhythmogenic cardiomyopathy. Chronic venous insufficiency to lower limbs. Ulcers persisting for 4 months. Non responsive to conventional therapy even with advanced wound dressing. Two venous type ulcers on left leg at the supramalleolar region. Size: 3cmx2.Scmx2cm - non painful - moderate exudate Biofilm and colonization of mild level. Treatment with Hyperoil® OILY formulation and Hyperoil® GAUZES. Change of dressing: 3 times a week. Compression therapy with multi-layer bandage always applied. After one week biofilm reduction and formation of granulation tissue are evident. During the following weeks there is an additional formation of granulation tissue and the beginning of reepithelialization. Complete healing in 60 days.. ...
http://www.hyperoil.com/es/casos-clinicos.html
Apoptosis is a tightly regulated physiologic procedure for occurring in both - Human Cytomegalovirus Inhibition by Cardiac...Apoptosis is a tightly regulated physiologic procedure for occurring in both - Human Cytomegalovirus Inhibition by Cardiac...
Apoptosis is a tightly regulated physiologic procedure for occurring in both regular and pathologic cells. also talked about. and studies offered compelling proof that terminally differentiated cardiomyocytes, can and perform undergo designed cell loss of life. Apoptosis has been proven to be engaged in various pathophysiological consequences, adding to many illnesses including cancers, immunity disorders, and cardiovascular disorders. Cardiomyocyte loss of life has been within major buy JNJ-42041935 center illnesses, including cardiomyopathies, myocardial infarction (MI), end-stage center failure, arrhythmogenic best ventricular dysplasia, etc [8-10]. Besides adult cardiac complications, numerous individual and animal research have shown distinctive jobs of apoptosis in regular and abnormal areas of the pediatric center. These buy JNJ-42041935 studies have already been instrumental in demonstrating the need for cardiomyocyte apoptosis and in buy JNJ-42041935 the characterization from the ...
http://chenglilab.org/apoptosis-is-a-tightly-regulated-physiologic-procedure-for-occurring-in-both/
ARVD : I Have a Heart Condition Story & Experience
ARVD : A true, personal story from the experience, I Have a Heart Condition. Well I guess Im first. I have a condition called ARVD. It is a genetic disorder that affects the Right Ventricle of the heart, and turns the muscle tissue into a fibrous tissue. I have had to give up...
http://www.experienceproject.com/stories/Have-A-Heart-Condition/314270
Patients Skin Cells Transformed into Heart CellsPatients Skin Cells Transformed into Heart Cells
The researchers at Sanford-Burnham Medical Research Institute and Johns Hopkins University have unveiled the first maturation-based disease in a dish model for ARVD/C.
http://www.medindia.net/news/patients-skin-cells-transformed-into-heart-cells-113633-1.htm
January 31, 2018 | ARVC MichiganJanuary 31, 2018 | ARVC Michigan
Your pets have tender skin just like you do. Leaving your pet out in the hot sun can be dangerous and he or she may also become sunburned. If youre out in the sun, make sure that you protect your pet as well. Here are a few ways to help your pet stay sun safe.…. ...
https://michcampgrounds.com/2018/01/31/
Cardiac rhythm problems during spaceflightCardiac rhythm problems during spaceflight
"Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?". Circulation. 94 (5): 983-91. doi: ... "Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia". New England Journal of Medicine. 335 (16): 1190-1197. doi ... tissue has been identified as the likely mechanism forarrhythmia development in arrhythmogenic right ventricular dysplasia, a ... although numerous studies have shown decreases in left ventricular mass and/or volume. During bed rest, left ventricular mass ...
https://en.wikipedia.org/wiki/Cardiac_rhythm_problems_during_spaceflight
PlakoglobinPlakoglobin
Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. Human plakoglobin is 81.7 kDa in ... GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy". PMID 20301310. {{cite journal}}: Cite journal requires ,journal= ( ... "Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy". Journal ...
https://en.wikipedia.org/wiki/Plakoglobin
List of OMIM disorder codesList of OMIM disorder codes
DDC Arrhythmogenic right ventricular dysplasia 1; 107970; TGFB3 Arrhythmogenic right ventricular dysplasia 2; 600996; RYR2 ... LAMR1 Arrhythmogenic right ventricular dysplasia 8; 607450; DSP Arrhythmogenic right ventricular dysplasia, familial, 10; ... DSC2 Arrhythmogenic right ventricular dysplasia, familial, 12; 611528; JUP Arrhythmogenic right ventricular dysplasia, familial ... TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial calcification, generalized, of infancy; ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
Frank I. MarcusFrank I. Marcus
... with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular ... Marcus, Frank I. (2002). "Update of arrhythmogenic right ventricular dysplasia". Cardiac Electrophysiology Review. 6 (1-2): 54- ... "Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D); Proposed modification of the Task Force ... "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, clinical presentation and diagnostic evaluation: Results from the ...
https://en.wikipedia.org/wiki/Frank_I._Marcus
Hereditary inclusion body myopathyHereditary inclusion body myopathy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly. ARVD7, Formerly. Arrhythmogenic Right Ventricular ... Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy. Desmin-Related Myopathy With Arrhythmogenic Right ...
https://en.wikipedia.org/wiki/Hereditary_inclusion_body_myopathy
CardiomyopathyCardiomyopathy
Arrhythmogenic right ventricular dysplasia is more common in young people. Symptoms of cardiomyopathies may include fatigue, ... arrhythmogenic right ventricular dysplasia, and Takotsubo cardiomyopathy (broken heart syndrome). In hypertrophic ... Arrhythmogenic right ventricular cardiomyopathy (ARVC) Left ventricular noncompaction Ion Channelopathies like the Long QT ... Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the ...
https://en.wikipedia.org/wiki/Cardiomyopathy
DesmoplakinDesmoplakin
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... "A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair". Journal ... "A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy". Human Mutation. 30 (9): 1278-83. ... "Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy". ...
https://en.wikipedia.org/wiki/Desmoplakin
Deaths in August 2007Deaths in August 2007
Antonio Puerta, 22, Spanish footballer (Sevilla FC), arrhythmogenic right ventricular dysplasia. Darryl Sly, 68, Canadian ...
https://en.wikipedia.org/wiki/Deaths_in_August_2007
Deaths in April 2015Deaths in April 2015
Suzanne Crough, 52, American actress (The Partridge Family), arrhythmogenic right ventricular dysplasia. David Fletcher, 90, ...
https://en.wikipedia.org/wiki/Deaths_in_April_2015
Texas VampiresTexas Vampires
"The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high ... "Localization of a Gene Responsible for Arrhythmogenic Right Ventricular Dysplasia to Chromosome 3p23". Circulation. 98 (25): ... of researchers from Baylor College of Medicine who in 1998 conducted a study on arrhythmogenic right ventricular dysplasia ( ... "Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and ...
https://en.wikipedia.org/wiki/Texas_Vampires
Brain natriuretic peptide 32Brain natriuretic peptide 32
"Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia". Circulation. 98 ... BNP and NT-proBNP are also typically increased in patients with left ventricular dysfunction, with or without symptoms (BNP ... Cosson S (September 2004). "Usefulness of B-type natriuretic peptide (BNP) as a screen for left ventricular abnormalities in ... is a hormone secreted by cardiomyocytes in the heart ventricles in response to stretching caused by increased ventricular blood ...
https://en.wikipedia.org/wiki/Brain_natriuretic_peptide_32
Hunter JumperHunter Jumper
At the beginning of the 2014 season, Jumper was diagnosed with arrhythmogenic right ventricular dysplasia. After undergoing ...
https://en.wikipedia.org/wiki/Hunter_Jumper
Ryanodine receptor 2Ryanodine receptor 2
Polymorphic Ventricular Tachycardia GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy ... gene are associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. ... Autosomal Dominant OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant RYR2+protein,+ ... November 1995). "A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43" (PDF). ...
https://en.wikipedia.org/wiki/Ryanodine_receptor_2
Long QT syndromeLong QT syndrome
It is a relatively common cause of sudden death along with Brugada syndrome and arrhythmogenic right ventricular dysplasia. In ... When symptoms occur, they are generally caused by abnormal heart rhythms (arrhythmias), most commonly a form of ventricular ... November 2015). "2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden ... Syncopal Attacks Due to Paroxysmal Ventricular Fibrillation. Presentation of 1st Case in Italian Pediatric Literature]". La ...
https://en.wikipedia.org/wiki/Long_QT_syndrome
Intermediate filamentIntermediate filament
... and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia". Circulation. 137 (15): 1595-1610. doi:10.1161/ ... December 2010). "De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy". Human ... December 2020). "The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic ... Dilated cardiomyoathy (DCM), mutations in the DES gene Arrhythmogenic cardiomyopathy (ACM), mutations in the DES gene ...
https://en.wikipedia.org/wiki/Intermediate_filament
DSC2DSC2
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... October 2009). "Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/ ... 2013). "Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient ... December 2013). "Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy". ...
https://en.wikipedia.org/wiki/DSC2
DesminDesmin
... and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia". Circulation. 137 (15): 1595-1610. doi:10.1161/ ... December 2010). "De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy". Human ... February 2013). "Desmin mutations and arrhythmogenic right ventricular cardiomyopathy". The American Journal of Cardiology. 111 ... June 2021). "The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic ...
https://en.wikipedia.org/wiki/Desmin
CUGBP2CUGBP2
... as a candidate gene for familial arrhythmogenic right ventricular dysplasia". Genomics. 74 (3): 396-401. doi:10.1006/geno. ...
https://en.wikipedia.org/wiki/CUGBP2
Arrhythmogenic cardiomyopathyArrhythmogenic cardiomyopathy
... (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular ... "Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular dysplasia: a 16-year experience". Current ... GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... Jain R. Athletic status and arrhythmogenic right ventricular dysplasia/cardiomyopathy: From physiological observations to ...
https://en.wikipedia.org/wiki/Arrhythmogenic_cardiomyopathy
Krissy TaylorKrissy Taylor
... concluded that the more likely cause of her death was a rare cardiac disease called arrhythmogenic right ventricular dysplasia ...
https://en.wikipedia.org/wiki/Krissy_Taylor
Suzanne CroughSuzanne Crough
Crough's cause of death was arrhythmogenic right ventricular dysplasia, a rare form of cardiomyopathy. Several of Crough's ...
https://en.wikipedia.org/wiki/Suzanne_Crough
Robert Roberts (cardiologist)Robert Roberts (cardiologist)
His 1998 study on arrhythmogenic right ventricular dysplasia (ARVD) among the population of Grand Falls, Newfoundland and ... "The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High ... led a group of researchers from Baylor College of Medicine to conduct a study on arrhythmogenic right ventricular dysplasia ( ...
https://en.wikipedia.org/wiki/Robert_Roberts_(cardiologist)
FlecainideFlecainide
... tachycardia and in the suppression of arrhythmias in arrhythmogenic right ventricular dysplasia (ARVD). Studies (notably the ... or left ventricular dysfunction) and also patients with ventricular arrhythmias, should not take this drug. The results were so ... The greatest effect is on the His-Purkinje system and ventricular myocardium. The effect of flecainide on the ventricular ... In the long-term, flecainide seems to be safe in people with a healthy heart with no signs of left ventricular hypertrophy, ...
https://en.wikipedia.org/wiki/Flecainide
Cardiac Risk in the YoungCardiac Risk in the Young
Hypertrophic cardiomyopathy (HCM) Arrhythmogenic right ventricular dysplasia (ARVC) Dilated cardiomyopathy (DCM) Restrictive ...
https://en.wikipedia.org/wiki/Cardiac_Risk_in_the_Young
Plakophilin-2Plakophilin-2
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... "Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of ... "Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2". ... Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study". Circulation. 123 (23): ...
https://en.wikipedia.org/wiki/Plakophilin-2
Foramen secundumForamen secundum
... including prevention of Arrhythmogenic right ventricular dysplasia and other associated cardiac abnormalities. The discovery of ...
https://en.wikipedia.org/wiki/Foramen_secundum
John C. BogleJohn C. Bogle
... he was diagnosed with the rare heart disease arrhythmogenic right ventricular dysplasia. He received a heart transplant in 1996 ...
https://en.wikipedia.org/wiki/John_C._Bogle
List of diseases (C)List of diseases (C)
Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathic lentiginosis Cardiomyopathy cataract hip spine disease ... dysplasia Craniofrontonasal syndrome Teebi type Craniometaphyseal dysplasia dominant type Craniometaphyseal dysplasia recessive ... Cleft upper lip median cutaneous polyps Clefting ectropion conical teeth Cleidocranial dysplasia Cleidocranial dysplasia ... Clonal hypereosinophilia Clouston syndrome Cloverleaf skull bone dysplasia Cloverleaf skull micromelia thoracic dysplasia ...
https://en.wikipedia.org/wiki/List_of_diseases_(C)
Bongani MayosiBongani Mayosi
... one of the gene mutations responsible for causing the life-threatening heart disease arrhythmogenic right ventricular dysplasia ... Mutations in Arrhythmogenic Right Ventricular CardiomyopathyCLINICAL PERSPECTIVE". Circulation: Cardiovascular Genetics. 10 (2 ...
https://en.wikipedia.org/wiki/Bongani_Mayosi
Chromosome 3Chromosome 3
Alkaptonuria Arrhythmogenic right ventricular dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus ... syndrome Retinitis pigmentosa Romano-Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia Short stature ...
https://en.wikipedia.org/wiki/Chromosome_3
DesmosomeDesmosome
Combined with -some, which comes from soma, body, it thus makes a desmosome a "binding body". Arrhythmogenic right ventricular ... Ectodermal dysplasia or skin fragility syndrome is caused by plakophillin 1 mutations. This is manifested by detachment of ... "Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy". Heart Rhythm. 8 (8 ... Mutations within the desmosome are the main cause of arrhythmogenic cardiomyopathy (ACM), a life-threatening disease caused by ...
https://en.wikipedia.org/wiki/Desmosome
Congenital heart defectCongenital heart defect
Aortic stenosis Arrhythmogenic right ventricular cardiomyopathy Atrial septal defect (ASD) Atrioventricular septal defect (AVSD ... are identified in the majority of examined cases of arteriohepatic dysplasia (Alagille syndrome), characterized by defects of ... Ventricular septal defects are collectively the most common type of CHD, although approximately 30% of adults have a type of ... It is also involved in the development of the ventricular wall and the connection of the outflow tract to the great vessels. ...
https://en.wikipedia.org/wiki/Congenital_heart_defect
List of skin conditionsList of skin conditions
... diffuse palmoplantar keratoderma with woolly hair and arrythmogenic right ventricular cardiomyopathy of Naxos, Naxos disease) ... epidermolysis bullosa Ectodermal dysplasia Ectodermal dysplasia with corkscrew hairs Ectrodactyly-ectodermal dysplasia-cleft ... palmoplantar ectodermal dysplasia type VIII, palmoplantar keratoderma of the Norrbotten type) Naxos syndrome (diffuse non- ... Mandibuloacral dysplasia Marinesco-Sjögren syndrome McCune-Albright syndrome McCusick syndrome Metageria Microphthalmia-dermal ...
https://en.wikipedia.org/wiki/List_of_skin_conditions
Desmoglein-2Desmoglein-2
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... and eventual arrhythmogenic right ventricular cardiomyopathy with ventricular dilation, fibrosis and cardiac arrhythmia. ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant Overview of all the structural information ... Mutations in DSG2 have been identified in patients with arrhythmogenic right ventricular cardiomyopathy, along with other ...
https://en.wikipedia.org/wiki/Desmoglein-2
Transforming growth factor, beta 3Transforming growth factor, beta 3
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant Overview of all the structural information ... "The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24". Human Molecular Genetics. 3 (6): ...
https://en.wikipedia.org/wiki/Transforming_growth_factor,_beta_3
TMEM43TMEM43
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant v t e (Genes on human chromosome 3, All stub ... April 2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by ... November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland ...
https://en.wikipedia.org/wiki/TMEM43
Veneti (Gaul)Veneti (Gaul)
Arrhythmogenic Right Ventricular Dysplasia (ARVD)) and the different Venetian settlement sites: Vistula basin, Adriatic Gulf ...
https://en.wikipedia.org/wiki/Veneti_(Gaul)
ArrhythmiaArrhythmia
Polymorphic ventricular tachycardia Ventricular fibrillation Torsades de pointes Arrhythmogenic right ventricular dysplasia Re- ... Ventricular arrhythmias include ventricular fibrillation and ventricular tachycardia. Bradyarrhythmias are due to sinus node ... hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Arrhythmias may also occur in the fetus. The normal ... Right ventricular outflow tract tachycardia is the most common type of ventricular tachycardia in otherwise healthy individuals ...
https://en.wikipedia.org/wiki/Arrhythmia
ACRVACRV
... also known as Arrhythmogenic right ventricular dysplasia) The Australian Research Council Centre of Excellence for Robotic ... the NATO name for artillery fire-control derivatives of the Soviet MT-LBu Arrhythmogenic cardiomyopathies of the right ...
https://en.wikipedia.org/wiki/ACRV
Arrhythmogenic Right Ventricular Dysplasia (ARVD)Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Arrhythmogenic right ventricular dysplasia is a rare disorder with dangerous heart rhythms that can be fatal for young adults. ... How is arrhythmogenic right ventricular dysplasia treated?. There isnt a cure for arrhythmogenic right ventricular dysplasia, ... Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular dysplasia, a rare condition, carries a high risk of ... What is arrhythmogenic right ventricular dysplasia?. Arrhythmogenic right ventricular dysplasia is a rare form of ...
https://my.clevelandclinic.org/health/diseases/16752-arrhythmogenic-right-ventricular-dysplasia-arvd
Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy...Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy...
... expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared ... expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared ...
https://www.zora.uzh.ch/id/eprint/135867/
Arrhythmogenic Right Ventricular DysplasiaArrhythmogenic Right Ventricular Dysplasia
... - 15 Studies Found. Status. Study Recruiting. Study Name: An Integrative-Omics ... Study Name: Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular ... Condition: Arrhythmogenic Right Ventricular Cardiomyopathy Cardiomyopathie. Date: 2017-01-30. Recruiting. Study Name: PET- ... Condition: Sarcoidosis Arrhythmogenic Right Ventricular Cardiomyopathy. Date: 2016-01-20. Interventions: Radiation: PET CT PET ...
https://webhealthnetwork.com/clinicaltrials-search.php?q=Arrhythmogenic+Right+Ventricular+Dysplasia
Ventricular Tachycardia: Practice Essentials, Background, PathophysiologyVentricular Tachycardia: Practice Essentials, Background, Pathophysiology
The rhythm may arise from ventricular myocardium, the distal conduction system, or both. ... Ventricular tachycardia (VT) refers to any rhythm faster than 100 (or 120) beats/min arising distal to the bundle of His. ... Arrhythmogenic right ventricular dysplasia. ARVD (also known as right ventricular cardiomyopathy) is characterized by ... Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary ...
https://www.medscape.com/answers/159075-67672/what-are-causes-of-ventricular-tachycardia-vt
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC): Background, Pathophysiology, EtiologyArrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC): Background, Pathophysiology, Etiology
... resulting in ventricular arrhythmias. It is an important cause of sudden cardiac death (SCD) in young adults, accounting for 11 ... Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is an inherited cardiomyopathy characterized by ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC) * Sections Arrhythmogenic Right Ventricular Dysplasia/ ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/ARVC). Arrhythmogenic right ventricular dysplasia epsilon wave ...
http://emedicine.staging.medscape.com/article/163856-overview
IMSEAR at SEARO: A family with arrhythmogenic right ventricular dysplasia.
A family with arrhythmogenic right ventricular dysplasia. Indian Heart Journal. 1999 Mar-Apr; 51(2): 200-2. ...
https://imsear.searo.who.int/handle/123456789/3130
Instructions for Classification of Underlying and Multiple Causes of Death - Appendix - 2020Instructions for Classification of Underlying and Multiple Causes of Death - Appendix - 2020
ARVD arrhythmogenic right ventricular dysplasia. AS arteriosclerotic; arteriosclerosis; aortic stenosis. ASA acetylsalicylic ...
https://www.cdc.gov/nchs/nvss/manuals/2020/2a-appendix-2020.htm
Arrhythmogenic right ventricular cardiomyopathy: MedlinePlus GeneticsArrhythmogenic right ventricular cardiomyopathy: MedlinePlus Genetics
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. Explore ... Arrhythmogenic right ventricular dysplasia, familial 1 *Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, ... Arrhythmogenic right ventricular dysplasia, familial, 2 *Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, ... Arrhythmogenic right ventricular dysplasia, familial, 4 *Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, ...
https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/
Class I Recall for Some Abbott Assurity and Endurity PacemakersClass I Recall for Some Abbott Assurity and Endurity Pacemakers
Pediatric Ventricular Tachycardia * 2002163856-overview. Diseases & Conditions Arrhythmogenic Right Ventricular Dysplasia (ARVD ...
https://www.medscape.com/viewarticle/951316
Internet Scientific Publications
Although arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is known to be one of the main causes of sudden ... Anaesthetic implications of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Anaesthesia. Jan 2009;64:73-8.. 3. Tabib ... Anesthetic management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: Two case reports. T Kunisawa ... 1. Fontaine G, Gallais Y, Fornes P, Hebert JL, Frank R. Arrhythmogenic right ventricular dysplasia/cardiomyopathy. ...
http://ispub.com/IJA/24/2/9621
Midiri M - Search Results - PubMedMidiri M - Search Results - PubMed
Arrhythmogenic right ventricular dysplasia: MR features. Midiri M, Finazzo M, Brancato M, Hoffmann E, Indovina G, Maria MD, ...
https://pubmed.ncbi.nlm.nih.gov/?term=Midiri+M&cauthor_id=10429698
Sudden Cardiac Death: Practice Essentials, Background, PathophysiologySudden Cardiac Death: Practice Essentials, Background, Pathophysiology
Epsilon wave in a patient with arrhythmogenic right ventricular dysplasia. View Media Gallery ... Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study ... Arrhythmogenic RV dysplasia affects men more often than women. The annual incidence rate of SCD in this population is ... Marcus FI, Fontaine GH, Guiraudon G. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982 Feb. 65(2):384- ...
http://emedicine.medscape.com/article/151907
MESH TREE NUMBER CHANGES - 2008 MeSHMESH TREE NUMBER CHANGES - 2008 MeSH
Arrhythmogenic Right Ventricular Dysplasia. C14.280.67.845.940.350 C14.280.238.28. Arterio-Arterial Fistula C14.240.110 C14.240 ... Ventricular Fibrillation C14.280.67.932 C14.280.67.922. C23.550.73.932 C23.550.73.922. Ventricular Pressure G9.330.553.400.977 ...
https://decs.bvs.br/P/mnchg2008.htm
Miguel A Pinilla Vera, MD| Heart Failure And Transplantation Cardiology | MedStar HealthMiguel A Pinilla Vera, MD| Heart Failure And Transplantation Cardiology | MedStar Health
Arrhythmogenic Right Ventricular Dysplasia * Beriberi * Cardiac Amyloid * Cardiac Insufficiency * Cardiac Sarcoidosis * ... like left ventricular assist devices (LVADs) and heart transplantation, when medication treatment is no longer an option. He ...
https://www.medstarhealth.org/doctors/miguel-a-pinilla-vera-md
What Are Cardiomyopathies?What Are Cardiomyopathies?
Arrhythmogenic Right Ventricular Dysplasia (ARVD). Arrhythmogenic right ventricular dysplasia (ARVD) is a rare form of ...
https://www.secondscount.org/heart-condition-centers/info-detail-2/what-are-cardiomyopathies
Table of Contents page: International Journal of Cardiology
... difference of electrocardiographic repolarization times in patients with arrhythmogenic right ventricular dysplasia. *Petri ... Sudden cardiac death and left ventricular fibrosis in a Finnish family with lamin A/C mutation. *Eeva Hookana, ... Discharge medication in acute heart failure patients with respect to left ventricular function. *Krista Siirilä-Waris, ... Dysglycemia in acute myocardial infarction - Impact on left ventricular function and prognosis. *Dan Eik Høfsten, ...
https://www.internationaljournalofcardiology.com/issue/S0167-5273
Linda Morrison - Research output - University of Edinburgh Research Explorer
Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses. Freel, K. M., Morrison, L ... Arrhythmogenic right ventricular cardiomyopathy as a cause of unexpected cardiac death in two horses (vol 166, pg 718, 2010). ... Endocarditis and ventricular wall abscessation in a vasectomised Herdwick ram. Crilly, J., Morrison, L. & Scott, P., 10 Mar ...
https://www.research.ed.ac.uk/en/persons/linda-morrison/publications/
Welcome to PhenoDisWelcome to PhenoDis
Arrhythmogenic right ventricular dysplasia, familial, 6 (OMIM:604401) Barth syndrome (Orphanet:111) ...
http://mips.helmholtz-muenchen.de/phenodis/symptom/show/8796
Cardiomyopathy
What is Arrhythmogenic Right Ventricular Dysplasia (ARVD). ARVD is a rare type of cardiomyopathy that occurs if the muscle ... Teens and young adults are more likely than older people to have arrhythmogenic right ventricular dysplasia, although its rare ...
https://www.marshfieldclinic.org/specialties/heart-care/cardiomyopathy
Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy<...
abstract = "Objectives To characterise pregnancy course and outcomes in women with arrhythmogenic right ventricular dysplasia/ ... N2 - Objectives To characterise pregnancy course and outcomes in women with arrhythmogenic right ventricular dysplasia/ ... AB - Objectives To characterise pregnancy course and outcomes in women with arrhythmogenic right ventricular dysplasia/ ... Objectives To characterise pregnancy course and outcomes in women with arrhythmogenic right ventricular dysplasia/ ...
https://jhu.pure.elsevier.com/en/publications/pregnancy-course-and-outcomes-in-women-with-arrhythmogenic-right--5
What Are Causes of Sudden Cardiac Death? | Pediatric Case and Reference Article | Pediatric EducationWhat Are Causes of Sudden Cardiac Death? | Pediatric Case and Reference Article | Pediatric Education
Cardiomyopathy including hypertrophic, dilated, arrhythmogenic right ventricular dysplasia, etc. *Congenital heart disease - ...
https://pediatriceducation.org/2012/10/01/what-are-causes-of-sudden-cardiac-death/
Star wrestler-turned-coach discovers serious heart problem at 24 | American Stroke AssociationStar wrestler-turned-coach discovers serious heart problem at 24 | American Stroke Association
Jade had arrhythmogenic right ventricular dysplasia, an inherited, progressive condition that usually appears in adulthood. Not ... At an urgent care clinic, a doctor diagnosed her with pre-ventricular contractions, which meant she was having an extra beat in ...
https://www.stroke.org/en/news/2021/08/24/star-wrestler-turned-coach-discovers-serious-heart-problem-at-24
Sudden Cardiac Arrest (SCA) - Prevention, Treatments | SingHealthSudden Cardiac Arrest (SCA) - Prevention, Treatments | SingHealth
Arrhythmogenic right ventricular dysplasia (ARVD) is also an inherited disorder presenting with a structurally abnormal right ... Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy). *Electrical disorders of the heart (e.g. ... This is usually due to a fast but chaotic heart rhythm called ventricular fibrillation (VF) or tachycardia (VT). ... Heart failure, especially when the left ventricular ejection fraction is less than 30 to 35% ...
https://www.kkh.com.sg/patient-care/conditions-treatments/sudden-cardiac-arrest
Mojtaba Jafaritadi | Stanford MedicineMojtaba Jafaritadi | Stanford Medicine
Arrhythmogenic Right Ventricular Dysplasia, Sports Cardiology, Left ventricular non-compaction cardiomyopathy, Genomic medicine ... Cardiac translational and rotational vibrations induced by left ventricular motions are measurable using joint ... nCardiac translational and rotational vibrations induced by left ventricular motions are measurable using joint ... Cardiac translational and rotational vibrations induced by left ventricular motions are measurable using joint ...
https://med.stanford.edu/profiles/mojtaba-jafaritadi
Wolff-Parkinson-White syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice USWolff-Parkinson-White syndrome - Symptoms, diagnosis and treatment | BMJ Best Practice US
... arrhythmogenic right ventricular dysplasia, and sarcoidosis; has reviewed and testified in medical malpractice cases; and has ... 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death ...
https://bestpractice.bmj.com/topics/en-us/400
Cardiomyopathies in Tropical Countries: Causes and Nosological PerspectiveCardiomyopathies in Tropical Countries: Causes and Nosological Perspective
3.6.3. Arrhythmogenic Right Ventricular Dysplasia (ARVD). Arrhythmogenic right ventricular dysplasia (ARVD) was first reported ... Arrhythmogenic right ventricular dysplasia and left ventricular noncompaction are also reported and do not differ from ... as well as arrhythmogenic right ventricular dysplasia (ARVD). Secondary cardiomyopathies include a large number of disorders. ... M. J. Munclinger, J. J. Patel and A. S. Mitha, "Follow-Up of Patients with Arrhythmogenic Right Ventricular Cardiomyopathy ...
https://file.scirp.org/Html/1-1960096_39891.htm
Find Research outputs - Taipei Medical University
An epsilon wave in arrhythmogenic right ventricular cardiomyopathy/dysplasia. You, C. C., Tseng, Y. T. & Hsieh, M. H., Jul 10 ...
https://tmu.pure.elsevier.com/en/publications/?showAdvanced=false&allConcepts=true&inferConcepts=true&publicationYear=2019&format=&nofollow=true&ordering=title&descending=true&page=855
NIOSHTIC-2 Search Results - Full View
... "arrhythmogenic right ventricular cardiomyopathy/dysplasia" as the cause of death. NIOSH investigators conclude that the ... coupled with the Trainees underlying cardiomyopathy/dysplasia and enlarged heart (cardiomegaly), triggered her sudden cardiac ...
http://www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=emergency+response&f1=%2A&Startyear=&Adv=0&terms=1&EndYear=&Limit=10000&sort=&D1=10&PageNo=72&RecNo=715&View=f&
What is Apoptosis?What is Apoptosis?
... arrhythmogenic right ventricular dysplasia, and conduction disturbances that may be responsible for sudden death. ...
https://www.news-medical.net/life-sciences/What-is-Apoptosis.aspx
Catheter ablation for the treatment of electrical storm in patients with implantable cardioverter-defibrillators: Short-and...
... and arrhythmogenic right ventricular dysplasia/cardiomyopathy (13 patients) undergoing catheter ablation for drug-refractory ES ... and arrhythmogenic right ventricular dysplasia/cardiomyopathy (13 patients) undergoing catheter ablation for drug-refractory ES ... and arrhythmogenic right ventricular dysplasia/cardiomyopathy (13 patients) undergoing catheter ablation for drug-refractory ES ... and arrhythmogenic right ventricular dysplasia/cardiomyopathy (13 patients) undergoing catheter ablation for drug-refractory ES ...
https://moh-it.pure.elsevier.com/en/publications/catheter-ablation-for-the-treatment-of-electrical-storm-in-patien
Right ventricular cardiomyopathyCardiomyopathyTachycardiaArrhythmiasARVDCatheter ablationSuddenPolymorphicArrhythmiaSymptomsMyocardiumPatientsLeftBeatsAbnormalAtrioventricularConductionSignalsMutationThicknessARVCPresumed Arrhythmogenic Right VentricuAbnormalitiesCardiomyopathiesNoncompactionFamilial arrhythmogenic right venSyndromeRestrictiveGene for arrhythmogenicMyocardialAssessment of right ventricularMulticenter studyCauses arrhythmogenicDiseaseDesmocollin-2 MutationsWoolly hairDiagnosisRight ventricular dysfunctionDesmosomalDisorderTricuspidInvolvementCirculationClinicalPrematureEchocardiographicHeart
Right ventricular cardiomyopathy10
  • Arrhythmogenic right ventricular dysplasia is also called arrhythmogenic right ventricular cardiomyopathy (ARVC). (clevelandclinic.org)
  • Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls. (uzh.ch)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. (medlineplus.gov)
  • Corrado D, Link MS, Calkins H. Arrhythmogenic Right Ventricular Cardiomyopathy. (medlineplus.gov)
  • The death certificate and the autopsy, completed by the Medical Examiner, listed "arrhythmogenic right ventricular cardiomyopathy/dysplasia" as the cause of death. (cdc.gov)
  • Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis. (acc.org)
  • You could read this book directly on your devices with pdf, epub and kindle format, check detail and related Cardiac MRI in Diagnosis Clinical Management and Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia books below. (harperandharley.org)
  • Cardiac MRI in Diagnosis, Clinical Management and Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy / Dysplasia provides up-to-date information regarding the most effective diagnostic protocols and CMR sequences for the evaluation of patients with suspected or known ARVC/D. It includes CMR protocol summaries and clinical algorithms presented as flow diagrams, many of which have never been previously published. (harperandharley.org)
  • However, much less is known about the serious and sometimes fatal effects PA can have in individuals with certain rare cardiovascular diseases, such as arrhythmogenic right ventricular cardiomyopathy (ARVC). (mun.ca)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue . (rareginews.com)
Cardiomyopathy17
  • Arrhythmogenic right ventricular dysplasia is a rare form of cardiomyopathy . (clevelandclinic.org)
  • Because it can affect your left ventricle as well, it's often called arrhythmogenic cardiomyopathy (ACM). (clevelandclinic.org)
  • We used typical anesthetic techniques for anesthetic management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) undergoing abdominal and gynecological surgery. (ispub.com)
  • Although arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is known to be one of the main causes of sudden unexpected perioperative death, few studies have reported the anesthetic management of patients with known ARVD/C because of its rare prevalence [1-3]. (ispub.com)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a rare form of cardiomyopathy in which the walls of the right lower chamber of the heart (the right ventricle ) die and are replaced by scar tissue. (secondscount.org)
  • NIOSH investigators conclude that the physical exertion involved in performing the fire fighter training exercises, coupled with the Trainee's underlying cardiomyopathy/dysplasia and enlarged heart (cardiomegaly), triggered her sudden cardiac death. (cdc.gov)
  • Methods and Results-Ninety-five consecutive patients with coronary artery disease (72 patients), idiopathic dilated cardiomyopathy (10 patients), and arrhythmogenic right ventricular dysplasia/cardiomyopathy (13 patients) undergoing catheter ablation for drug-refractory ES were prospectively evaluated. (elsevier.com)
  • At the Center for Cardiovascular Genetics at Beth Israel Deaconess Medical Center, Dr. Saumya Das and his colleagues screen people, usually young people, with a family history of early sudden death or inherited diseases such as Marfan syndrome, hypertrophic cardiomyopathy, dilated cardiomyopathy at a young age, or arrhythmogenic right ventricular dysplasia. (harvard.edu)
  • Specific recommendations are made, including participation of hypertrophic cardiomyopathy (HCM) genotype-positive athletes without left ventricular hypertrophy, counseling against the placement of prophylactic implantable cardioverter-defibrillators (ICDs) in athletes with HCM for the sole purpose of athletic participation, and assuring that athletes with probable or definitive myocarditis defer returning to athletic participation until evidence that active inflammation has resolved. (acc.org)
  • Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (cdc.gov)
  • Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (cdc.gov)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. (cdc.gov)
  • PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients. (cdc.gov)
  • Invasive cardiac catheterization and electrophysiologic testing may be necessary to evaluate patients at risk for heart block or ventricular tachycardia and to document cardiomyopathy, myocarditis, or coexisting hemodynamic abnormalities. (medscape.com)
  • Cardiomyopathies are of four most important types: dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic proper ventricular dysplasia, and restrictive cardiomyopathy. (healthperfect.net)
  • In arrhythmogenic cardiomyopathy (AC), there are no randomized clinical trial data on pharmacologic management, and little data overall on the use of drugs in this condition. (elsevier.com)
  • Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10), and genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 1BB (CMD1BB). (ptglab.com)
Tachycardia12
  • The most common rhythm is ventricular tachycardia , which happens in 77% of people with this condition. (clevelandclinic.org)
  • This electrocardiogram (ECG) shows rapid monomorphic ventricular tachycardia (VT), 280 beats/min, associated with hemodynamic collapse. (medscape.com)
  • The patients, a 54-year-old man and a 22-year-old woman, had ventricular tachycardia (VT), and the symptoms and physical findings were controlled by medication. (ispub.com)
  • The first patient was a 54-year-old man (height, 161 cm and weight, 56 kg) who was under medication for ventricular tachycardia (VT) for 5 years. (ispub.com)
  • This is usually due to a fast but chaotic heart rhythm called ventricular fibrillation (VF) or tachycardia (VT) . (kkh.com.sg)
  • Background-Electrical storm (ES) caused by recurrent episodes of ventricular tachycardia (VT) can cause sudden death in patients with implantable cardioverter-defibrillators and adversely affects prognosis in survivors. (elsevier.com)
  • Until then, however, beta blockade is still indicated in NonSTEMI when the patient has hypertension and also if there is tachycardia (tachycardia that is not compensatory for low stroke volume, which may be due to poor LV function, valvular disease, low left ventricular end-diastolic volume, or low systemic vascular resistance). (blogspot.com)
  • BACKGROUND: Epicardial approach to ventricular tachycardia (VT) ablation is mainly performed under general anesthesia (GA). Although catheter manipulation and ablation in the epicardial space could be painful, GA lowers blood pressure and may interfere with arrhythmia induction and mapping, and the use of muscle relaxants precludes identification of the phrenic nerve (PN). (bvsalud.org)
  • The appearance is usually of a tachycardia with rapid, regular ventricular rates of 170-260 beats per minute. (wikipedia.org)
  • QRS duration greater than 0.18 seconds is considered a risk factor for development of ventricular tachycardia and sudden death. (medscape.com)
  • In patients presenting with tolerated sustained monomorphic ventricular tachycardia (SMVT), first-line treatment with direct current cardioversion is recommended if the anesthetic/sedation risk is low. (medscape.com)
  • In patients with symptomatic idiopathic ventricular tachycardia (VT)/premature ventricular complexes from the right ventricular outflow tract or the left fascicles, first-line treatment with catheter ablation is recommended. (medscape.com)
Arrhythmias8
  • People with arrhythmogenic right ventricular dysplasia often have arrhythmias (abnormal heart rhythms), which can increase their risk of sudden cardiac arrest or death. (clevelandclinic.org)
  • You have a higher risk of ventricular arrhythmias and a higher risk of sudden cardiac death. (clevelandclinic.org)
  • Cardiac symptoms, treatment and episodes of sustained ventricular arrhythmias (VAs) and heart failure (HF) ≥ Class C were characterised. (elsevier.com)
  • In patients with angina despite pharmacotherapy or who have symptomatic ventricular arrhythmias, invasive coronary angiography is recommended. (medscape.com)
  • Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. (bvsalud.org)
  • Therefore, ablation of ventricular arrhythmias originating from PMs in a patient with MVP can be considered an adjunctive strategy to lower the arrhythmic burden and reduce the risk of ICD shocks. (bvsalud.org)
  • Updated clinical guidelines for managing patients with ventricular arrhythmias and preventing sudden cardiac death were published in August 2022 by the European Society of Cardiology (ESC), in the European Heart Journal . (medscape.com)
  • It is recommended that patients with congenital heart disease who present with sustained ventricular arrhythmias be evaluated for residual lesions or new structural abnormalities. (medscape.com)
ARVD3
  • The then teenager was diagnosed with arrhythmogenic right ventricular dysplasia (ARVD), which causes the heart to beat abnormally and carries a risk of patients' hearts suddenly stopping. (naturalsociety.com)
  • Recently a study in France has shown that there is a remarkable correlation between the geographical distribution of a genetic disease (Arrhythmogenic Right Ventricular Dysplasia (ARVD)) and the different Venetian settlement sites: Vistula basin, Adriatic Gulf and Armorican Massif in particular. (unexplained-mysteries.com)
  • 2. Suboptimal TIs produceed a black rim artifact at the blood-myocardium and at the myocardium-fat borders of both ventricles (figure 2 , 17 year old girl with suspected arrhythmogenic right ventricular dysplasia [ARVD], figure 4 , 17 year old male with repaired Tetralogy of Fallot, black rims along the endo- and epicardium as well as along the gastric mucosa, figure 7 ). (biomedcentral.com)
Catheter ablation2
  • Treatment options can vary by patient and may include anti-arrhythmogenic medication , implantable cardioverter defibrillators and catheter ablation . (rareginews.com)
  • It is recommended that catheter ablation be used in preference to escalating anti-arrhythmic drug therapy in patients with coronary artery disease who, despite chronic amiodarone therapy, have recurrent, symptomatic sustained monomorphic ventricular tachycardia (SMVT) or implantable cardioverter defibrillator (ICD) shocks for SMVT. (medscape.com)
Sudden2
  • You have an even higher risk of abnormal ventricular rhythms and sudden cardiac death. (clevelandclinic.org)
  • The medical examiner further testified that an autopsy revealed that Middlebrooks suffered from a heart condition called "arrhythmogenic right ventricular dysplasia," which can cause "funny" cardiac rhythms and can result in sudden death in five percent of persons who suffer from it. (findlaw.com)
Polymorphic1
  • Some of the markers of "arrhythmic MVP" include inverted/biphasic T-waves, QT prolongation, and polymorphic premature ventricular contractions (PVCs) originating from the left ventricular outflow tract and papillary muscles (PMs). (bvsalud.org)
Arrhythmia1
  • Cite this: Ventricular Arrhythmia Clinical Practice Guidelines (ESC, 2022) - Medscape - Sep 30, 2022. (medscape.com)
Symptoms1
  • You may not have arrhythmogenic right ventricular dysplasia symptoms early on. (clevelandclinic.org)
Myocardium2
  • The rhythm may arise from the working ventricular myocardium, the distal conduction system, or both. (medscape.com)
  • It has been suggested that, in late gadolinium enhancement (LGE), the signal of right ventricular myocardium is nulled at a shorter inversion time (TI) than the left. (biomedcentral.com)
Patients2
  • Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (cdc.gov)
  • In patients with atrial septal defects, the rsR' pattern, the so called "incomplete right bundle branch block," may be seen and is thought to be due to right ventricular volume overload. (medscape.com)
Left7
  • Transthoracic echocardiography revealed mild hypokinesis in the left ventricular apex, aneurysm in the right ventricular apex, reduced right ventricular wall motion, trabecular derangement, and trivial tricuspid regurgitation. (ispub.com)
  • Electrophysiologic examination revealed delayed conduction, where VT could not be induced, on the septal side and periphery of the right ventricular apex as well as in the septum of the left ventricle. (ispub.com)
  • and evaluating the necessity of using mechanical pumps, like left ventricular assist devices (LVADs) and heart transplantation, when medication treatment is no longer an option. (medstarhealth.org)
  • Arrhythmogenic right ventricular dysplasia and left ventricular noncompaction are also reported and do not differ from elsewhere. (scirp.org)
  • A bedside ultrasound was done that was of imperfect quality but showed good left ventricular function. (blogspot.com)
  • Recommendations include performance of maximal exercise testing in competitive athletes with known atherosclerotic coronary artery disease for assessment of inducible ischemia and exercise-induced electrical instability (Class I), and assessment of left ventricular systolic function among athletes with known coronary artery disease (Class I). (acc.org)
  • The initial R wave represents septal activation, the S wave represents left ventricular activation, and the R' represents activation of the right ventricle from the septum and left ventricle. (medscape.com)
Beats2
  • VT at 240-300 beats/min is often termed ventricular flutter. (medscape.com)
  • of the 2 instances of VT, one was characterized by 14 consecutive ventricular beats and the other by less than 14. (ispub.com)
Abnormal1
  • Arrhythmogenic right ventricular dysplasia, a rare condition, carries a high risk of abnormal heart rhythms that can be fatal for young adults. (clevelandclinic.org)
Atrioventricular1
  • There may a 1:1 relationship between atria and ventricular activity with a short RP interval, or atrioventricular dissociation with slower atrial than ventricular rates if the AV node is unable to conduct from the ventricles to the atria. (wikipedia.org)
Conduction1
  • For example, the standard criteria for ventricular hypertrophy or ischemia are relatively unhelpful in a patient with a preexisting intraventricular conduction defect. (medscape.com)
Signals1
  • There may be atrio-ventricular disassociation with more ventricular signals than atrial signals. (wikipedia.org)
Mutation1
  • About 60% of people with arrhythmogenic right ventricular dysplasia have a genetic mutation. (clevelandclinic.org)
Thickness1
  • In contrast, it changes little with varying slice thickness because the SA cuts are perpendicular to the ventricular wall so that the relative voxel composition does not change significantly when the slice thickness is modified. (biomedcentral.com)
ARVC17
  • Introduction - Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited heart muscle disorder that primarily affects the right ventricular myocardium early in the course of disease with later-onset left ventricular involvement. (unipd.it)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. (medlineplus.gov)
  • BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). (lookfordiagnosis.com)
  • ARVC is a cardiomyopathy in which the right ventricular myocardium is replaced by fibroadipose tissue. (lookfordiagnosis.com)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary disease of heart muscle that results in fibrofatty replacement of the right ventricle and the subepicardial region of the left ventricle. (medscape.com)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), biventricular, autopsy heart in a young man who died suddenly playing basketball. (medscape.com)
  • The etiology of arrhythmogenic right ventricular cardiomyopathy (ARVC) is unknown. (medscape.com)
  • The prevalence of arrhythmogenic right ventricular cardiomyopathy (ARVC) has been estimated at 1:2500 to 1:5000. (medscape.com)
  • and a potentially life-threatening form of heart disease called arrhythmogenic right ventricular cardiomyopathy (ARVC). (medlineplus.gov)
  • The most prominent pathologic feature of ARVC is fatty infiltration of ventricular myocardium. (upmc.edu)
  • Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. (portlandpress.com)
  • BACKGROUND: The usefulness of echocardiographic indices, including those already used by modified Task Force Criteria (mTFC), and others such as strain imaging, to identify arrhythmogenic right ventricular cardiomyopathy (ARVC) in adolescence is not well established. (elsevier.com)
  • An International Evidence Based Reappraisal of Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) using the ClinGen Framework. (musc.edu)
  • Rajaie Cardiomyopathy and myocarditis Registry (RCMR) study is an observational registry of patients with four subtype of cardiomyopathy include: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM) as well as myocarditis designed to determine clinical characteristics, natural history, current therapeutic approaches, response to treatment and long-term outcomes of patients with cardiomyopathy and myocarditis. (ac.ir)
  • To the Editor: We described a successful treatment of a case diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) with absent pulmonary valve (APV). (thefreedictionary.com)
  • What you should be alert for in the history Carajal syndrome, a variant of Naxos disease (Naxos arrhythmogenic cardiocutaneous syndrome), associates woolly hair and palmoplantar keratoderma with an extreme type of left dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), initially characterized as dilated cardiomyopathy. (rheumatologyadvisor.com)
  • What to be alert for in the history Naxos disease associates arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) with woolly hair and palmoplantar keratoderma (naxos arrhythmogenic cardiocutaneous syndrome). (rheumatologyadvisor.com)
Presumed Arrhythmogenic Right Ventricu1
  • Clinical Features of English Bulldogs with Presumed Arrhythmogenic Right Ventricular Cardiomyopathy: 31 Cases (2001-2013). (umassmed.edu)
Abnormalities4
  • Right atrial (RA) and right ventricular (RV) chamber dimensions, RV regional function, and the presence of morphologic abnormalities (hyper-reflective moderator band, trabecular derangement, and sacculations) were assessed. (elsevier.com)
  • Histologic analysis of hearts from RyR2 R176Q/+ mice revealed no evidence of fibrofatty infiltration or structural abnormalities characteristic of arrhythmogenic right ventricular dysplasia, but right ventricular end-diastolic volume was decreased in RyR2 R176Q/+ mice compared with controls, indicating subtle functional impairment due to the presence of a single mutant allele. (elsevier.com)
  • Left ventricular outflow tract abnormalities. (barnesandnoble.com)
  • Right ventricular outflow tract abnormalities. (barnesandnoble.com)
Cardiomyopathies2
  • Congenital Dysplasias and Cardiomyopathies. (barnesandnoble.com)
  • Type Subtypes Cardiomyopathies Hypertrophic cardiomyopathy Dilated cardiomyopathy Restrictive cardiomyopathy Arrhythmogenic right-ventricular cardiomyopathy Unclassified Specific Ischemic cardiomyopathy cardiomyopathies Valvular cardiomyopathy Hypertensive cardiomyopathy Inflammatory cardiomyopathy Myocarditis Idiopathic Infective Autoimmune Metabolic cardiomyopathy Endocrine Familial storage disease and infiltrations Deficiency Amyloidosis General system disease Connective tissue disorders Infiltrations and granulomas Muscular dystrophies Neuromuscular disorders Sensitivity and toxic reactions Peripartal cardiomyopathy Table 2. (thefreedictionary.com)
Noncompaction4
  • Left ventricular noncompaction happens when the left ventricle has trabeculations, projections of muscle inside the ventricle. (nih.gov)
  • Family physicians should be alert for acquired variants of cardiomyopathy, including peripartum and stress-induced cardiomyopathy, as well as rare variants, such as arrhythmogenic right ventricular dysplasia and left ventricular noncompaction. (aafp.org)
  • An uncommon and recently identified congenital cardiomyopathy is left ventricular noncompaction, a condition of embryonic origin that interferes with the development of mature heart muscle. (aafp.org)
  • They investigate all forms of pediatric and adult cardiomyopathy, including hypertrophic dilated or restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia / cardiomyopathy and left ventricular noncompaction. (cincinnatichildrens.org)
Familial arrhythmogenic right ven1
  • Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. (duke.edu)
Syndrome2
  • Postoperative death in a patient with unrecognized arrhythmogenic right ventricular dysplasia syndrome . (lookfordiagnosis.com)
  • A probe into the incident concluded the cause of his death was "within the definition of sudden arrhythmogenic death syndrome (SADS)" - a condition that affects the heart. (thefreedictionary.com)
Restrictive4
  • The main types of cardiomyopathy include dilated , hypertrophic, restrictive & arrhythmogenic right ventricular dysplasia . (cacvi.org)
  • Restrictive cardiomyopathy is characterized by restricted ventricular filling (the result of left ventricular muscle swelling, hypertrophy) and endocardial fibrosis & thickening. (cacvi.org)
  • The most common manifestations of cardiomyopathy are dilated, hypertrophic, restrictive, arrhythmogenic right ventricular dysplasia, and transthyretin amyloid cardiomyopathy (ATTR-CM). (gardenstatemedicalgroup.com)
  • Hypertrophic cardiomyopathy (HCM) is identified in over 60% of cardiomyopathic cats, with the rest attributable to dilated cardiomyopathy, restrictive cardiomyopathy (endomyocardial or myocardial), arrhythmogenic right ventricular cardiomyopathy, and "unclassified" cardiomyopathy. (vin.com)
Gene for arrhythmogenic1
  • The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. (upmc.edu)
Myocardial2
  • Epsilon wave is an unusual electrocardiographical finding, which may appear in other pathological conditions besides the arrhythmogenic right ventricular dysplasia , particularly in the acute myocardial infarction of the right ventricle, the inferior, or the posterior wall of the left ventricle. (lookfordiagnosis.com)
  • Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed enhancement magnetic resonance imaging. (thefreedictionary.com)
Assessment of right ventricular1
  • Echocardiographic assessment of right ventricular systolic function in Boxers with arrhythmogenic right ventricular cardiomyopathy. (umassmed.edu)
Multicenter study3
  • Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. (medscape.com)
  • Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (cdc.gov)
  • Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study. (harvard.edu)
Causes arrhythmogenic1
  • Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. (lookfordiagnosis.com)
Disease6
  • Saguner AM, Brunckhorst C, Duru F. Arrhythmogenic ventricular cardiomyopathy: a paradigm shift from right to biventricular disease. (medscape.com)
  • Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. (medscape.com)
  • About one-half of children with the disease have a parent or sibling with varying degrees of left ventricular muscle or ventricular wall enlargement, although relatives may or may not have symptoms. (choc.org)
  • Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (Shiba et al. (nih.gov)
  • It is obvious that the number of potential victims is not large, but the fact that the background of many of these deaths can be genetically conditioned by arrhythmogenic syndromes and that several other asymptomatic family members can be affected by the same disease, requires that SUD in patients younger than 35 years be carefully studied. (thefreedictionary.com)
  • Conversely, features of PH may be unexpectedly encountered in patients referred with left heart disease (where they should be reported due to its prognostic importance) or in patients with dilated RVs previously thought to have arrhythmogenic right ventricular dysplasia. (biomedcentral.com)
Desmocollin-2 Mutations1
  • Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. (medlineplus.gov)
Woolly hair1
  • Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. (medlineplus.gov)
Diagnosis2
  • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (medscape.com)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. (harvard.edu)
Right ventricular dysfunction1
  • Transthoracic echocardiography revealed isolated right ventricular dysfunction with dilation and multiple trabeculations. (imrpress.com)
Desmosomal3
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (medlineplus.gov)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. (cdc.gov)
  • Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (cdc.gov)
Disorder2
  • A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). (fpnotebook.com)
  • Microdeletions in this gene may are associated with arrhythmogenic right ventricular dysplasia 13, autism spectrum disorder and multiple fetal anomalies. (ern-ithaca.eu)
Tricuspid3
  • Left ventricular ejection fraction, tricuspid annular peak systolic excursion, and systolic and diastolic pulsed-wave tissue Doppler imaging indices were similar to controls for all groups. (elsevier.com)
  • Effect of In Utero Non-Steroidal Anti-Inflammatory Drug Therapy for Severe Ebstein Anomaly or Tricuspid Valve Dysplasia (NSAID Therapy for Fetal Ebstein anomaly). (harvard.edu)
  • Arrhythmogenic RV Dysplasia can be auscultated at the tricuspid area. (practicalclinicalskills.com)
Involvement3
  • The prognosis is worse in patients with left ventricular (LV) involvement. (medscape.com)
  • The left ventricular involvement is typically subepicardial, and the changes are related more to fibrosis than to fat or fibrofatty infiltration, although at times the changes are probably similar to those seen in the right ventricle. (medscape.com)
  • However, newer imaging techniques have revealed that left ventricular involvement is typical from the onset. (medscape.com)
Circulation1
  • Intra aortic balloon pump (IABP), extracorporeal circulation, ventricular assist devices) to maintain blood pressure and cardiac index above those specified levels. (nih.gov)
Clinical3
  • Clinical and pathologic study of two siblings with arrhythmogenic right ventricular cardiomyopathy. (lookfordiagnosis.com)
  • illustrating how right ventricular remodeling is favorably reversed by drug therapies and providing explicit confirmation of the importance of the right ventricle to clinical outcome. (biomedcentral.com)
  • Early detection and maintaining a healthy weight are among the most valuable ways to reduce clinical signs of hip dysplasia. (forevervets.com)
Premature1
  • Recent studies have shown that those subjects with an extremely high occurrence (several thousands a day) of premature ventricular contractions (extrasystole) can develop dilated cardiomyopathy. (wikipedia.org)
Echocardiographic1
  • mTFC echocardiographic parameters were analyzed, as well as comprehensive right ventricular (RV) and left ventricular assessment of function including parameters not included in mTFC such as pulsed-wave tissue Doppler and RV 2-dimensional speckle strain. (elsevier.com)
Heart2
  • Increased left ventricular wall thickness/stiffness produces this fourth heart sound. (practicalclinicalskills.com)
  • In addition, some breeds (Boxers and Bulldogs) can also develop arrhythmogenic right ventricular cardiomyopathy - where fatty/fibrous tissue replaces normal heart cells. (forevervets.com)