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.
Members of the armadillo family of proteins that are found in DESMOSOMES and interact with various proteins including desmocadherins; DESMOPLAKIN; ACTIN FILAMENTS; and KERATINS.
A CALCIUM-dependent adhesion molecule of DESMOSOMES that also plays a role in embryonic STEM CELL proliferation.
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 are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
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).
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)
A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall.
A 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).
The innermost layer of the heart, comprised of endothelial cells.
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.
Methods to induce and measure electrical activities at specific sites in the heart to diagnose and treat problems with the heart's electrical system.
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.
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.
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.
A single-pass transmembrane glycoproteins that mediate CALCIUM-dependent CELL ADHESION and are core components of DESMOSOMES.
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)
The hemodynamic and electrophysiological action of the right HEART VENTRICLE.
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.
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.
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.
Amputation or separation at a joint. (Dorland, 28th ed)
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.
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
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.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
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.
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.
The return of a sign, symptom, or disease after a remission.
A condition in which HEART VENTRICLES exhibit impaired function.
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.
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)
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
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).
Genes that influence the PHENOTYPE only in the homozygous state.

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 North American Multidisciplinary Study.
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 ...
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 ...
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 ...
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 ...
̣̣̣̺ 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, ...
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 ...
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 ...
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 ...
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 ...
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 ...
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
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 ...
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 ...
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. ...
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 ...
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 ...
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
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
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 ...
What is Arrhythmogenic Right Ventricular Dysplasia Familial 12 ARVD12? FDNA Telehealths complete guide to rare disease causes, symptoms, testing, and diagnosis.
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
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
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 ...
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 ...
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 ...
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
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, ...
|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
ARVC or arrhythmogenic right ventricular cardiomyopathy is a rare illness. The occurrence of the same makes it impossible for an individual to recover completely.
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 ...
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.
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 ...
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,
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 …
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 ...
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
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 ...
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 ...
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 ...
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel of 14 genes is now available. For further information see Asper Cardiogenetics/ARVD. ...
Appropriate and Inappropriate Implantable Cardioverter Defibrillators Therapies in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Patients
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) ...
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. ...
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.
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 ...
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 ...
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 ...
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. ...
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
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 ...
Definition of arrhythmogenic right ventricular. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
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.
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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.. ...
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 ...
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...
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.
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.…. ...
"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 ...
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 requires ,journal= (help) Bauce B, Nava ... "Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy". Journal ...
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; ...
... 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 ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... I23.2) Ventricular septal defect as current complication following acute myocardial infarction. *(I23.3) Rupture of cardiac ...
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 ...
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 and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the ... Arrhythmogenic right ventricular cardiomyopathy (ARVC) LV non-compaction Ion Channelopathies Dilated cardiomyopathy (DCM) ...
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". ...
Antonio Puerta, 22, Spanish footballer (Sevilla FC), arrhythmogenic right ventricular dysplasia. Darryl Sly, 68, Canadian ...
Suzanne Crough, 52, American actress (The Partridge Family), arrhythmogenic right ventricular dysplasia. David Fletcher, 90, ...
"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 ...
At the beginning of the 2014 season, Jumper was diagnosed with arrhythmogenic right ventricular dysplasia. After undergoing ...
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). ...
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 ...
... 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. ...
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". ...
... and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia". Circulation. 137 (15): 1595-1610. doi:10.1161/ ... "Desmin mutations and arrhythmogenic right ventricular cardiomyopathy". The American Journal of Cardiology. 111 (3): 400-5. doi: ... "De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy". Human Molecular Genetics. 19 ... Desmin (DES) mutations have been associated with restrictive, dilated, idiopathic, arrhythmogenic and non-compaction ...
... as a candidate gene for familial arrhythmogenic right ventricular dysplasia". Genomics. 74 (3): 396-401. doi:10.1006/geno. ...
Crough's cause of death was arrhythmogenic right ventricular dysplasia, a rare form of cardiomyopathy. Several of Crough's ...
... 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, ...
Hypertrophic cardiomyopathy (HCM) Arrhythmogenic right ventricular dysplasia (ARVC) Dilated cardiomyopathy (DCM) Restrictive ...
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant OMIM entries on ... April 2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant v t e. ... November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland ...
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): ...
... he was diagnosed with the rare heart disease arrhythmogenic right ventricular dysplasia. He received a heart transplant in 1996 ...
"Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia". Circulation. 98 ... Cosson S (septembar 2004). "Usefulness of B-type natriuretic peptide (BNP) as a screen for left ventricular abnormalities in ... "Gene expression of brain natriuretic peptide in isolated atrial and ventricular human myocardium: influence of angiotensin II ... "Diagnostic ability of B-type natriuretic peptide and impedance cardiography: testing to identify left ventricular dysfunction ...
Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathic lentiginosis Cardiomyopathy cataract hip spine disease ... dysplasia Craniofrontonasal syndrome Teebi type Craniometaphyseal dysplasia dominant type Craniometaphyseal dysplasia recessive ... cutaneous polyps Clefting ectropion conical teeth Cleidocranial dysplasia micrognathia absent thumbs Cleidocranial dysplasia ... Clonal hypereosinophilia Clouston syndrome Cloverleaf skull bone dysplasia Cloverleaf skull micromelia thoracic dysplasia ...
... 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 ...
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 ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... Ventricular[edit]. Main article: Ventricular tachycardia. Ventricular tachycardia (VT or V-tach) is a potentially life- ... Ventricular tachycardia, any tachycardia that originates in the ventricles. *Any narrow complex tachycardia combined with a ... Palpitations, Ventricular tachycardia, Supraventricular tachycardia, Paroxysmal tachycardia, Junctional ectopic tachycardia, ...
... polymorphic ventricular tachycardia and hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia ("arrythmia ... Defibrillation differs in that it is used for ventricular fibrillation and pulseless ventricular tachycardia, and more ... Fibrillation can affect the atrium (atrial fibrillation) or the ventricle (ventricular fibrillation); ventricular fibrillation ... Ventricular fibrillation occurs in the ventricles (lower chambers) of the heart; it is always a medical emergency. If left ...
Arrhythmogenic right ventricular dysplasia 9. *centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II) ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... left ventricular size and function, peak right ventricular pressure (pulmonary hypertension), presence of left atrial thrombus ... Lower heart rates may be recommended in those with left ventricular hypertrophy or reduced left ventricular function.[110] Rate ... During AF, if all of the impulses from the atria passed through the AV node, there would be severe ventricular tachycardia, ...
"Arrhythmogenic Right Ventricular Cardiomyopathy". Genetic Welfare Problems of Companion Animals. ufaw.org.uk: Universities ... hip dysplasia, and degenerative myelopathy and epilepsy; other conditions that may be seen are gastric dilatation volvulus ( ... heart conditions such as aortic stenosis and arrhythmogenic right ventricular cardiomyopathy (the so-called "Boxer ...
Arrhythmogenic right ventricular dysplasia. *Atransferrinemia. *Autism. *Autosomal Dominant Optic Atrophy. *ADOA Plus Syndrome ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... The QRS complex will also be narrow in LGL syndrome, as opposed to WPW, because ventricular conduction is via the His-Purkinje ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... Premature ventricular contraction. References[edit]. *^ Tipton MJ, Kelleher PC, Golden FS Institute of Naval Medicine, Gosport ... On the surface ECG, premature junctional contractions will appear as a normally shaped ventricular complex or QRS complex, not ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... The ectopic beat is typically a premature ventricular contraction (PVC). For example, in ventricular bigeminy, a sinus beat is ... If it does become symptomatic, beta-blockers can be used to try and suppress ventricular ectopy. Class I and III agents are ... The term "rule of bigeminy" is used to refer to the dependence of bigeminy on the ventricular cycle length in irregular rhythms ...
... catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, or a heart attack.[2][3] ... Other rarer congenital causes of monomorphic VT include right ventricular dysplasia, and right and left ventricular outflow ... Ventricular tachycardia can be classified based on its morphology: *Monomorphic ventricular tachycardia means that the ... Right ventricular outflow tract (RVOT) tachycardia is a type of monomorphic ventricular tachycardia originating in the right ...
Arrhythmogenic right ventricular dysplasia. Electrical conduction system of the heart. AV block (First degree, Second degree, ... Ventricular remodeling. Dalerayan[mag-edit , alilan ya ing pikuwanan]. *↑ (2004) The World Health Report 2004 - Changing ... Ventricular tachycardia) - Atrial fibrillation - Atrial flutter - Premature contraction (Atrial, Ventricular) - Sick sinus ... Heart failure - Cardiomegaly - Ventricular hypertrophy (Left, Right). Arteries, arterioles and capillaries. Atherosclerosis - ...
... concluded that the more likely cause of her death was a rare cardiac disease called arrhythmogenic right ventricular dysplasia. ...
Arrhythmogenic right ventricular dysplasia 9. *centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II) ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... Right heart catheterization is the test used to test for elevated diastolic ventricular pressures. This test is more invasive ... Worse outcomes have been seen when echocardiography shows left ventricular wall thickness, poor systolic function and severe ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... Rokey, R.; Chahine, R. A. (June 1984). "Isolated left posterior fascicular block associated with acquired ventricular septal ... "Left posterior fascicular block: a new endpoint of ablation for verapamil-sensitive idiopathic ventricular tachycardia". Chin ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Electrical conduction system of the heart. AV block (First degree, Second degree, ... Ventricular tachycardia) - Atrial fibrillation - Atrial flutter - Premature contraction (Atrial, Ventricular) - Sick sinus ... Heart failure - Cardiomegaly - Ventricular hypertrophy (Left, Right). Arteries, arterioles and capillaries. Atherosclerosis - ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... On an ECG, the QRS complex will be abnormally shaped when looking at ventricular ectopic activity, often it occurs earlier with ... Cardiac Ischemia (particularly ventricular ischemia) - The membranes of apoptotic (dying) cells become "leaky" and cause ... bradycardia or ventricular fibrillation.[2] In a normal heart beat rhythm, the SA node usually suppresses the ectopic pacemaker ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... SVES should be viewed in contrast to a premature ventricular contraction which has a ventricular origin and the associated QRS ... Premature ventricular contraction. References[edit]. *^ [1], Nickolls, Peter; Richard M. T. Lu & Kenneth A. Collins, "Apparatus ...
Arrhythmogenic right ventricular dysplasia(英语:Arrhythmogenic right ventricular dysplasia). 心内膜 /. 瓣膜(英语:Valvular heart disease) ... Ventricular hypertrophy(英语:Ventricular hypertrophy) *Left(英语:Left ventricular hypertrophy) ... Aneurysm of heart(英语:Aneurysm of heart) / Ventricular aneurysm(英语:Ventricular aneurysm) ... Catecholaminergic polymorphic(英语:Catecholaminergic polymorphic ventricular tachycardia). *Torsades de pointes(英语:Torsades de ...
GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant ... "The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24". Human Molecular Genetics. 3 (6): ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ... which may terminate into a dangerous heart rhythm known as ventricular fibrillation, which often leads to death.[51] ... high-grade narrowing of the coronary arteries can induce transient ischemia which leads to the induction of a ventricular ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Endocardium /. valves. Endocarditis. *infective endocarditis *Subacute bacterial ...
Arrhythmogenic right ventricular dysplasia. Endocardium/. valves. Endocarditis. Infective endocarditis (Subacute bacterial ... hours (Myocardial stunning, Hibernating myocardium) · days (Myocardial rupture) · weeks (Aneurysm of heart/Ventricular aneurysm ...
... 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 ... encoded search term (Arrhythmogenic Right Ventricular Dysplasia (ARVD)) and Arrhythmogenic Right Ventricular Dysplasia (ARVD) ... Prevalence of left ventricular regional dysfunction in arrhythmogenic right ventricular dysplasia: a tagged MRI study. Circ ...
... , Arrhythmogenic Right Ventricular Cardiomyopathy, Right Ventricular Dysplasia, ARVD. ... Arrhythmogenic Right Ventricular Dysplasia. Arrhythmogenic Right Ventricular Dysplasia Aka: Arrhythmogenic Right Ventricular ... Arrhythmogenic Right Ventricular Dysplasia, Right Ventricular Dysplasia, Arrhythmogenic, Arrhythmogenic right ventricular ... Arrhythmogenic RVD, arrhythmogenic right ventricular dysplasia (diagnosis), ARVD-C, Arrhythmogenic Right Ventricular Dysplasia- ...
ARVD is inherited in an autosomal-dominant pattern and clinically is characterized by ventricular arrhythmias with an increased ... Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy and is also called ARVD/C. In most cases, ... Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy and is also called ARVD/C. In most cases, ARVD ... Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and implantable cardioverter ...
Arrythmogenic RV dysplasia (ARVD) - Cleveland Clinic Heart & Vascular Institute, leader in heart care and heart disease in the ... What Is Arrhythmogenic Right Ventricular Dysplasia (ARVD)?. (Also called arrhythmogenic right ventricular cardiomyopathy) ... What causes Arrhythmogenic Right Ventricular Dysplasia?. The cause of ARVD is unknown. It occurs in about 1 in 5,000 people. ... What are the symptoms of Arrhythmogenic Right Ventricular Dysplasia?. ARVD is usually diagnosed at a young age (usually less ...
... is a rare familial disorder that may cause ventricular tachycardia and sudden cardiac death in young, apparently healthy ... What is Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy?. Arrhythmogenic right ventricular dysplasia / ... Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C). Facebook Twitter Linkedin Pinterest Print. Genetic ... Ventricular Tachycardia (VT)- a series of rapid heartbeats, originating in the ventricle. This may last only a few beats or may ...
Right ventricular parietal block, reduced QRS amplitude, epsilon wave, T wave inversion in V1-3 and ventricular tachycardia in ... The ECG is abnormal in most patients with arrhythmogenic right ventricular dysplasia (ARVD). ... The ECG is abnormal in most patients with arrhythmogenic right ventricular dysplasia (ARVD). Right ventricular parietal block, ... Previous Document: How to Recognize Epicardial Origin of Ventricular Tachycardias?. Next Document: Updated Electrocardiographic ...
... dedicated to finding a cure and providing long-term care for patients diagnosed with arrhythmogenic right ventricular dysplasia ... Arrhythmogenic right ventricular dysplasia (ARVD), also known as arrhythmogenic right ventricular cardiomyopathy (ARVC), is a ... Treatment for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is based on your individual needs and is ... Jasonee was diagnosed with Arrythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) in 2012. After a sudden dramatic ...
... the right ventricular myocardium. An overlap between ARVC and Brugada Syndrome has been suggested. Frontiers in Cardiac ... Arrhythmogenic Mechanisms in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) ARVC is a complex syndrome involving ... Arrhythmogenic Mechanisms in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) ARVC is a complex syndrome involving ... structural and functional electrophysiologcial changes in -preferentially- the right ventricular myocardium. An overlap between ...
Arrhythmogenic Right Ventricular Dysplasia (ARVD or ARVC) ECG findings including Epsilon waves are discussed with a full 12- ... Ventricular Hypertrophies Ventricular Hypertrophies * Left Ventricular Hypertrophy (LVH) ECG (Example 1) * Left Ventricular ... Ventricular Arrhythmias - Other Ventricular Arrhythmias - Other * Asystole ECG * Premature Ventricular Contractions (PVCs) ECG ... Ventricular Rhythms Ventricular Rhythms * Paced Rhythms Paced Rhythms * AAI Pacemaker ECG * Paced Rhythm with Memory T Waves ...
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. J. ... 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 ... Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy ...
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. ... Revised Task Force Criteria (108 Patients).1 CMR assessment of right ventricular volume and wall motion have 96 to 100% ... CMR is the gold-standard for assessment of right ventricular volume due to its ability to clearly image RV in unrestricted ... Cardiac cine images acquired without contrast for ventricular volumetric assessment are required for diagnostic purposes. ...
A case of arrhythmogenic right ventricular dysplasia with left and right ventrricular hypofunction in an elderly subject:long- ... Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia FURLANELLO F. ... Usefulness of electron computed tomography in arrhythmogenic right ventricular dysplasia TADA H. ... Arrhythmogenic right ventricular cardiomyopathy and fatty replacement of the right ventricular myocardium ALLEN P. ...
Arrhythmogenic right ventricular dysplasia, familial, 2 information including symptoms, diagnosis, misdiagnosis, treatment, ... Arrhythmogenic right ventricular dysplasia, familial, 2: Introduction. Arrhythmogenic right ventricular dysplasia, familial, 2: ... Next: Symptoms of Arrhythmogenic right ventricular dysplasia, familial, 2 Diseases » Arrhythmogenic right ventricular dysplasia ... Misdiagnosis of Arrhythmogenic right ventricular dysplasia, familial, 2. Causes of Arrhythmogenic right ventricular dysplasia, ...
... exercise induced right ventricular dysplasia/cardiomyopathy (EIRVD/C). The VT could be ea … ... We report a case of a 32-year-old female world champion triathlete who developed exercise induced recurrent ventricular ... Exercise-induced right ventricular dysplasia/cardiomyopathy--an emerging condition distinct from arrhythmogenic right ... "exercise induced right ventricular dysplasia/cardiomyopathy" (EIRVD/C). The VT could be easily terminated by burst pacing from ...
... Blomström- ... was performed in 16 patients with arrhythmogenic right ventricular dysplasia and in 16 normal subjects. The differences between ... Patients with multiple QRS morphologies during ventricular tachycardia (VT) had, compared with patients with only one type of ...
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and ... Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and ...
Background- Although arrhythmogenic right ventricular dysplasia (ARVD) predominantly affects the right ventricle (RV), genetic/ ... Regional left ventricular (LV) function has not been systematically studied in ARVD. ...
Arrhythmogenic right ventricular dysplasia (ARVD, also known as arrhythmogenic right ventricular cardiomyopathy or ARVC)) is an ... Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Car * Blockade of the Renin-angiotensin-aldosterone System ... Treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators ... with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle ...
... represents a myocardial disease characterized by progressive ventricular myocyte loss and ... Arrhythmogenic right ventricular dysplasia (ARVD) is often associated with progressive right ventricular dysfunction. Although ... Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112:3823-32. PubMedCrossRef ... Cardiac transplantation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2012;59:289-90. ...
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 *Arrhythmogenic Right Ventricular Cardiomyopathy 11. *Arrhythmogenic ... Arrhythmogenic Right Ventricular Dysplasias, Familial, 8 Gene Panel (Option B). Service level. Sequencing of the entire coding ... Arrhythmogenic Right Ventricular Dysplasias, Familial, 8 Gene Panel (Option B): Postnatal Diagnosis Urgent by Sequencing of the ... Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities. *Keratosis Palmoplantaris With Arrhythmogenic ...
Anatomical features and clinical correlations in Caucasian patients with definite arrhythmogenic right ventricular dysplasia/ ...
BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D) is a mainly autosomal-dominant disease ... BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D) is a mainly autosomal-dominant disease ... 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 ...
Pregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Brittney Murray, Crystal Tichnell, Cindy James, ... Pregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Brittney Murray, Crystal Tichnell, Cindy James, ... Pregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Message Subject (Your Name) has forwarded a page to you ... Pregnancy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Brittney Murray, Crystal Tichnell, Cindy James, ...
arrhythmogenic right ventricular cardiomyopathy autosomal dominant disease arrhythmogenic right ventricular cardiomyopathy ... arrhythmogenic right ventricular dysplasia 12. Search Ontology: Synonyms:. *arrhythmogenic right ventricular cardiomyopathy 12 ...
Impact of the Revision of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Task Force Criteria on Its Prevalence by ... Impact of the Revision of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Task Force Criteria on Its Prevalence by ... Impact of the Revision of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Task Force Criteria on Its Prevalence by ... the impact of revised versus original criteria on the prevalence of arrhythmogenic right ventricular cardiomyopathy/dysplasia ( ...
When compared with other genes, DSG2 mutations were associated with more frequent left ventricular involvement (P = 0.006). ... Five desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) but ... Abstract : AIMS: Five desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/ ... Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical ...
Baseline sinus rhythm electrocardiography as well as electrocar- diographic differences during ventricular arrhythmias (VT o ... Ventricular arrhythmias in patients with ARVD/C are common. Differentiation between idiopathic VT and ARVD is of utmost ... Electrocardiographic patterns of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 2012. * ... Ventricular arrhythmias in patients with ARVD/C are common. Differentiation between idiopathic VT and ARVD is of utmost ...
Fingerprint Dive into the research topics of Arrhythmogenic right ventricular dysplasia. Together they form a unique ...
arrhythmogenic right ventricular dysplasia/cardiomyopathy. DNA. deoxyribonucleic acid. ECG. electrocardiogram. ICD. implantable ... 2000) Morphological patterns of death by myocytes in arrhythmogenic right ventricular dysplasia. Am J Med Sci 320:310-319. ... 2005) Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 112:3823-3832. ... 2006) DSG2 Mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 79:136-142. ...
What is arrhythmogenic right ventricular dysplasia type 5? Meaning of arrhythmogenic right ventricular dysplasia type 5 medical ... What does arrhythmogenic right ventricular dysplasia type 5 mean? ... arrhythmogenic right ventricular dysplasia type 5. An autosomal ... Looking for online definition of arrhythmogenic right ventricular dysplasia type 5 in the Medical Dictionary? arrhythmogenic ... Arrhythmogenic right ventricular dysplasia type 5 , definition of arrhythmogenic right ventricular dysplasia type 5 by Medical ...
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is an inherited cardiomyopathy characterized by structural and functional abnormalities in the right ventricle (RV) resulting in ventricular arrhythmias. (medscape.com)
  • 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 risk of sudden death. (biomedsearch.com)
  • Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and implantable cardioverter defibrillator are the mainstay of treatment of ARVD/C. (biomedsearch.com)
  • Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) is a rare familial disorder that may cause ventricular tachycardia and sudden cardiac death in young, apparently healthy individuals. (hopkinsmedicine.org)
  • The major condition that needs to be differentiated from ARVD/C is idiopathic ventricular tachycardia arising from the outflow tract. (hopkinsmedicine.org)
  • Ventricular tachycardia can be exactly the same, but there is no structural abnormality of the heart, unlike the situation in ARVD/C where commonly there is dilation of the ventricle, abnormal contraction or reduced function. (hopkinsmedicine.org)
  • The ECG is abnormal in most patients with arrhythmogenic right ventricular dysplasia (ARVD). (biomedsearch.com)
  • Arrhythmogenic right ventricular dysplasia (ARVD) , also known as arrhythmogenic right ventricular cardiomyopathy (ARVC), is a leading cause of sudden death among young athletes but it can affect people of all ages and all activity levels. (hopkinsmedicine.org)
  • Treatment for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is based on your individual needs and is informed by your cardiac test results, medical history, and the presence or absence of genetic mutations. (hopkinsmedicine.org)
  • Jasonee was diagnosed with Arrythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) in 2012. (hopkinsmedicine.org)
  • Background- Although arrhythmogenic right ventricular dysplasia (ARVD) predominantly affects the right ventricle (RV), genetic/molecular and histological changes are biventricular. (scialert.net)
  • Regional left ventricular (LV) function has not been systematically studied in ARVD. (scialert.net)
  • Arrhythmogenic right ventricular dysplasia (ARVD, also known as arrhythmogenic right ventricular cardiomyopathy or 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. (checkorphan.org)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is often associated with progressive right ventricular dysfunction. (springermedizin.at)
  • During the 14 years our program has been in existence, we have cared for a considerable number of arrhythmogenic right ventricular dysplasia (ARVD) patients who became pregnant. (onlinejacc.org)
  • Ventricular arrhythmias in patients with ARVD/C are common. (escholarship.org)
  • Mutations in PKP2, encoding the desmosomal protein plakophilin-2, are present in up to 43% of individuals with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). We sought to characterize the clinical features of PKP2 mutation carriers in 9 ARVD/C families. (onlinejacc.org)
  • Objectives The purpose of our study was to characterize the penetrance of PKP2 mutations among family members of people with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to examine clinical features and predictors of disease among PKP2 mutation carriers. (onlinejacc.org)
  • Opinion statement: Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder that is characterized by ventricular arrhythmias and structural abnormalities of the right ventricle. (elsevier.com)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV). (cdc.gov)
  • The discovery of desmosomal mutations associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) has led researchers to hypothesize equal right (RV) and left (LV) ventricular affliction in the disease process. (cdc.gov)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a hereditary cardiomyopathy that causes sudden death in the young. (nature.com)
  • ARVD is a type of right ventricular cardiomyopathy characterized by the gradual loss of cardiomyocytes and compensatory replacement with either adipose or fibrous tissue. (nature.com)
  • Figure 1: Massive fibrosis covers the outer side of the right ventricular wall, as with human ARVD, and never extends to the left ventricle. (nature.com)
  • Cardiac Magnetic Resonance Imaging (MRI) is recommended for the diagnosis of ARVD, as it visualizes fibro-fatty infiltration of the right ventricular (RV) myocardium. (safebeat.org)
  • 500 ventricular extrasystoles per 24 hours by Holter), and so a diagnosis of ARVD was made. (elsevier.pt)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a disorder is a rare disease in which myocardium that is normal is replaced by fibrofatty tissues. (blindscustomerservices.com)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic cause for sudden cardiac arrest or (SCA), this condition is when the heart cease beating. (blindscustomerservices.com)
  • Patients who show a specific arrhythmia called ventricular tachycardia or (VT) coming from (RV) in the absence of overt heart disease, or SCA, occurring during exercise should be considered patients of ARVD. (blindscustomerservices.com)
  • Arrhythmogenic right ventricular dysplasia (ARVD) is a very rare form of cardiomyopathy, but it's the leading cause of sudden death in young athletes. (healthline.com)
  • Arrhythmogenic right ventricular dysplasia (say: "uh-rith-mo-jen-ic right ven-trick-yoo-lar dis-play-shuh"), also called ARVD, is a rare heart problem. (wordpress.com)
  • An estimated 1 in 1,000 to 1 in 5,000 people have a heart disease known as arrhythmogenic right ventricular dysplasia or ARVD. (paulandperkins.com)
  • Arrhythmias caused by right ventricular dysplasia (ARVD) are refractory to treatment and may cause sudden death. (elsevier.com)
  • Regional right ventricular (RV) dysfunction is the hallmark of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), but is currently only qualitatively evaluated in the clinical setting. (biomedcentral.com)
  • Arrhythmogenic Right Ventricular Dysplasia (ARVD) is the second most common cause of sudden cardiac death in young people, after hypertrophic obstructive cardiomyopathy (HOCM). (emsimcases.com)
  • Objective: The Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD-C) registry was established to determine the genetic background of ARVD-C for analyzing discovered genetic variation frequencies in the European and Latvian populations. (anatoljcardiol.com)
  • Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) is predominantly an inherited cardiomyopathy with typical histopathological characteristics of fibro-fatty infiltration mainly involving the right ventricular (RV) inflow tract, RV outflow tract, and RV apex in the majority of patients . (bvsalud.org)
  • The above pathologic evolution frequently brings patients with ARVD/C to medical attention owing to the manifestation of syncope , sudden cardiac death (SCD), ventricular arrhythmogenesis, or heart failure . (bvsalud.org)
  • To prevent future or recurrent SCD, an implantable cardiac defibrillator (ICD) is highly desirable in patients with ARVD/C who had experienced unexplained syncope , hemodynamically intolerable ventricular tachycardia (VT), ventricular fibrillation , and/or aborted SCD. (bvsalud.org)
  • Notably, the management of frequent ventricular tachyarrhythmias in ARVD/C is challenging, and the use of antiarrhythmic drugs could be unsatisfactory or limited by the unfavorable side effects. (bvsalud.org)
  • However, the initial understanding of the link between fibro-fatty pathogenesis and ventricular arrhythmogenesis in ARVD/C is scarce, the efficacy and prognosis of endocardial RFCA alone were limited and disappointing. (bvsalud.org)
  • In this article, we review the important evolution on the delineation of arrhythmogenic substrates , ablation strategies , and ablation outcome of VT in patients with ARVD/C. (bvsalud.org)
  • Magnetic resonance (MR) imaging is readily applied for the diagnosis of advanced structural abnormalities associated with arrhythmogenic right ventricular dysplasia (ARVD). (biomedcentral.com)
  • The Multidisciplinary Study of Right Ventricular Dysplasia aims to characterize the clinical and genetic aspects of ARVD. (biomedcentral.com)
  • PURPOSE: To assess electrocardiographically gated spin-echo (SE) and double inversion-recovery fast SE magnetic resonance (MR) imaging in the depiction of intramyocardial fat in cadaveric heart specimens and patients with arrhythmogenic right ventricular dysplasia (ARVD). (houstonmethodist.org)
  • Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by delay in depolarization of the right ventricle, detected by prolonged terminal activation duration (TAD) in V1-V3. (elsevier.com)
  • Since this first classification, major advances have meant that this overly simplistic system needed a more indepth approach to incorporate new clinical entities such as arrhythmogenic right ventricular dysplasia (ARVD) [ 3 , 4 ]. (hindawi.com)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by an enlargement of primarily the right ventricle of the heart with a change in the consistency of the heart tissue. (uchicagomedicine.org)
  • ARVD/C can also be associated with life-threatening irregular heart rhythms such as ventricular tachycardia. (uchicagomedicine.org)
  • ARVC can, however, cause ventricular tachycardia, which may degenerate into ventricular fibrillation at any age. (ecgwaves.com)
  • ARVC can cause ventricular tachycardia, ventricular fibrillation and sudden cardiac arrest at any age. (ecgwaves.com)
  • The patient later deteriorates into an unstable WCT and then ventricular fibrillation requiring advanced cardiac life support (ACLS) and defibrillation. (emsimcases.com)
  • Examples are patients with Long QT Syndrome, Short QT Syndrome, Brugada Syndrome, familial atrial fibrillation, WPW-syndrome, arrhythmias due to familial hypertrophic cardiomyopathy or arrhythmogenic right ventricular dysplasia. (clinicaltrials.gov)
  • Exercise causes the heart to fibrillate, usually ventricular fibrillation, and then stop. (barnesjewish.org)
  • The pathological hallmark of the disease is fibrofatty replacement of right ventricular myocardium. (hopkinsmedicine.org)
  • ARVC is a complex syndrome involving structural and functional electrophysiologcial changes in -preferentially- the right ventricular myocardium. (frontiersin.org)
  • 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. (checkorphan.org)
  • An autosomal dominant disorder (OMIM:604400) characterised by fibrofatty degeneration of the right ventricular myocardium (especially the free wall), electrical lability and sudden death. (thefreedictionary.com)
  • The gradual loss of myocardium leads to ventricular dilation and right heart failure . (ecgwaves.com)
  • The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. (biomedcentral.com)
  • Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. (nih.gov)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disorder that predominantly develops in the right ventricle, due to progressive replacement of myocardium by fatty or fibrofatty tissue leading to conduction disturbances and arrhythmias [ 1 , 2 , 3 ]. (nature.com)
  • Arrhythmogenic right ventricular dysplasia is a rare kind of cardiomyopathy disease in which the right ventricle (RV) of the heart muscle (myocardium) is replaced by fat and fibrous scar tissue. (openpr.com)
  • Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. (hindawi.com)
  • We currently advise ICD implantation for probands who meet the full criteria for the disease, especially if they have experienced cardiac syncope, sustained ventricular tachycardia, or have severe right ventricular or left ventricular dysfunction. (elsevier.com)
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, also known as arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair , is related to palmoplantar keratoderma and woolly hair and ectodermal dysplasia/skin fragility syndrome , and has symptoms including dyspnea and syncope . (malacards.org)
  • Exercise, or any other activity causing adrenergic stimulation, increase the risk of syncope, ventricular arrhythmias and sudden cardiac arrest. (ecgwaves.com)
  • Young age, family history of juvenile sudden death, QRS dispersion ≥ 40 ms, T-wave inversion, left ventricular involvement, ventricular tachycardia, syncope and previous cardiac arrest are the major risk factors for adverse prognosis. (biomedcentral.com)
  • The evaluation of a patient with syncope should be focused on determining if the patient is at increased risk of death and should seek to identify if the patient has an underlying condition causing the syncope (i.e., heart disease, myocardial ischemia, Wolff-Parkinson-White syndrome, long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia). (aafp.org)
  • Exercise testing is essential when suspecting arrhythmogenic origin of syncope, and in the case of CPVT, it may be even more sensitive than Holter monitoring. (springer.com)
  • It is characterized by ventricular arrhythmia and right ventricular dysfunction. (fpnotebook.com)
  • The replacement of the normal tissue predisposes the person to abnormal heart rhythms and electric activity called arrhythmogenic arrhythmia. (blindscustomerservices.com)
  • Arrhythmogenic means causing an arrhythmia. (janetzilinski.org)
  • Methods: 56 patients with a right ventricular arrhythmia were studied. (elsevier.com)
  • History of myocardial infarction or repaired congenital heart disease raises the possibility of ventricular arrhythmia. (aafp.org)
  • Improved survival with an implanted defibrillator in patients with coronary disease at high risk for ventricular arrhythmia. (medscape.com)
  • Idiopathic right ventricular arrhythmias (IdioVAs) are generally benign, with excellent ablation outcomes and long-term arrhythmia-free survival, and must be distinguished from other conditions associated with VAs arising from the right ventricle: the differential diagnosis with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is therefore crucial because VAs are one of the most important causes of sudden cardiac death (SCD) in young individuals even with early stage of the disease. (elsevier.com)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but highly malignant inherited arrhythmia disorder. (springer.com)
  • Standard short-axis cine stack, 2ch, 3ch, and 4ch cines should be combined with a transverse (axial) cine stack and right-ventricular outflow tract cines. (scmr.org)
  • The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. (biomedcentral.com)
  • an endocardial mural contact plaque (arrow) is present in the left ventricular outflow tract in apposition to the anterior mitral leaflet (AML). (rjmatthewsmd.com)
  • Right Ventricular outflow tract arrhythmias: Benign or early stage arrhythmogenic right ventricular cardiomyopathy/dysplasia? (elsevier.com)
  • Ventricular arrhythmias (VAs) arising from the right ventricular outflow tract (RVOT) are a common and heterogeneous entity. (elsevier.com)
  • Fingerprint Dive into the research topics of 'Right Ventricular outflow tract arrhythmias: Benign or early stage arrhythmogenic right ventricular cardiomyopathy/dysplasia? (elsevier.com)
  • 2003) Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. (scirp.org)
  • 2010) Usefulness of precordial T-Wave inversion to distinguish arrhythmogenic right ventricular cardiomyopathy from idiopathic ventricular tachycardia arising from the right ventricular outflow tract. (scirp.org)
  • Few patients develop such severe dysfunction or frequent episodes of ventricular tachycardia that a heart transplant may be necessary. (hopkinsmedicine.org)
  • Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy characterized by fatty-fibrous myocardial replacement of the right ventricle, ventricular arrhythmias, and right ventricular dysfunction. (onlinejacc.org)
  • Restrictive cardiomyopathy is characterized by normal left ventricular size but diastolic dysfunction. (uchicagomedicine.org)
  • Transgenic mice displayed a similar phenotype as arrhythmogenic right ventricular cardiomyopathy patients, with loss of cardiomyocytes, fibrosis and cardiac dysfunction, as well as alterations in desmosome protein content and gap junction remodeling. (wikipedia.org)
  • BACKGROUND Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC/D) is a mainly autosomal-dominant disease characterized by fibrofatty infiltration of the right ventricle leading to ventricular arrhythmias. (uzh.ch)
  • The authors brought to light the complex nature of clinical genetics in arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. (onlinejacc.org)
  • Objectives The purpose of our study was to assess the impact of revised versus original criteria on the prevalence of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) criteria in cardiac magnetic resonance (CMR) studies. (onlinejacc.org)
  • Background-In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and interpretation of the frequently nonspecific clinical features of ARVC/D. This enabled confirmatory clinical diagnosis in index cases through exclusion of phenocopies and provided a standard on which clinical research and genetic studies could be based. (radclarity.com)
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is considered a genetic cardiomyopathy that predominantly affects the right ventricle. (ecgwaves.com)
  • Patients with ARVC display frequent premature ventricular contractions (PVC) , which may advance to monomorphic ventricular tachycardia (VT) . (ecgwaves.com)
  • Ventricular tachycardia in ARVC has LBBB morphology, with negative T-waves in V1 through V4. (ecgwaves.com)
  • Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited condition that causes abnormal heart rhythms. (arizona.edu)
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by initial fibrofatty replacement of the right ventricle. (ommegaonline.org)
  • In a cohort of patients with confirmed or suspected arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), genetic testing is useful in confirming the diagnosis, particularly in individuals who do not completely fulfil Task Force criteria for the disease, thereby also enabling the adoption of preventive measures in family members. (cdc.gov)
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. (biomedcentral.com)
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a unique heart muscle disease, clinically characterized by non-ischemic ventricular arrhythmias originating from the right ventricle (RV), at risk of cardiac arrest. (biomedcentral.com)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. (medlineplus.gov)
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited heart-muscle disorder, which is the most common cause of life-threatening arrhythmias and sudden cardiac death (SCD) in young adults and athletes. (nature.com)
  • The Cardiac MRI in Diagnosis, Clinical Management and Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy / Dysplasiaprovides 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. (medicalbookspdf.net)
  • 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)
  • BACKGROUND: Prior reports on patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) focused on individuals with advanced forms of the disease. (duke.edu)
  • OBJECTIVE: The purpose of the Multidisciplinary Study of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia was to study the clinical characteristics and diagnostic evaluation of a large group of patients newly identified with ARVC/D. METHODS: A total of 108 newly diagnosed patients with suspected ARVC/D were prospectively enrolled in the United States and Canada. (duke.edu)
  • CONCLUSION: The clinical profile of 108 newly diagnosed probands with suspected ARVC/D indicates that a combination of diagnostic tests is needed to evaluate the presence of right ventricular structural, functional, and electrical abnormalities. (duke.edu)
  • Echocardiography, right ventricular angiography, signal-averaged ECG, and Holter monitoring provide optimal clinical evaluation of patients suspected of ARVC/D. (duke.edu)
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal dominant genetic form of cardiomyopathy (CM), which primarily affects the right ventricle (RV) and results in life threatening ventricular arrhythmias and sudden cardiac death (SCD). (scirp.org)
  • 2009) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D): Proposed modification of the task force criteria. (scirp.org)
  • Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. (springermedizin.at)
  • The primary goal of treatment is preventing sustained ventricular arrhythmias and/or sudden death. (safebeat.org)
  • Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac condition associated with ventricular arrhythmias, heart failure, and sudden death. (nih.gov)
  • It is a cause of sudden death or ventricular tachycardia in athletes. (thefreedictionary.com)
  • Patients are at high risk for ventricular tachyarrhythmias and sudden death (see the image below). (medscape.com)
  • Ventricular arrhythmias and sudden death are responsible for hundreds of thousands of deaths each year throughout the world. (wiley.com)
  • Ventricular Arrhythmias and Sudden Cardiac Death provides the information that cardiologists, cardiac electrophysiologists, cardiac electrophysiology fellows, scientists, industry, and associated professionals need to know about current and evolving Ventricular Tachyarrhythmia treatment and diagnosis. (wiley.com)
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder that causes syncopal episodes related with stress or emotion and even sudden cardiac deaths. (springer.com)
  • However, the potential catastrophic nature of a sudden cardiac death in the remote, but highly public, environment of space flight has led to continued concern since the early days of the space program over the possibility that space flight might be arrhythmogenic. (wikipedia.org)
  • Mice exhibited cardiomyopathy, fibrosis, conduction abnormalities and sudden cardiac death, presumably via spontaneous lethal ventricular arrhythmias. (wikipedia.org)
  • Treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. (checkorphan.org)
  • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (medscape.com)
  • Investigations supported a diagnosis of the newly recognised condition "exercise induced right ventricular dysplasia/cardiomyopathy" (EIRVD/C). The VT could be easily terminated by burst pacing from the RV apex and the athlete has been successfully treated with an internal cardioverter defibrillator (ICD). (nih.gov)
  • Perez Diez D, Brugada J. Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia. (wikem.org)
  • For the diagnosis of arrthymogenic right ventricular dysplasia to be made patients must have either two major criteria, one major and two minor criteria, or four minor criteria. (radiopaedia.org)
  • Clinical suspicion should be raised in the setting of refractory ventricular tachycardia originating from the RV, and the final diagnosis could be made based on the combination of electrocardiography, echocardiography, cardiac magnetic resonance imaging (CMRI) and myocardial biopsy. (scirp.org)
  • Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/ cardiomyopathy. (scirp.org)
  • The clinical hallmark of the disease is ventricular arrhythmias, arising predominantly from the right ventricle. (hopkinsmedicine.org)
  • Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. (springermedizin.at)
  • Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (inserm.fr)
  • The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up. (clinicaltrials.gov)
  • Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. (duke.edu)
  • For this review, we searched the Ovid Medline database for presumptive CPVT cases using the keyword "catecholaminergic polymorphic ventricular tachycardia", covering the 60-year time period from 1950 to March 2009. (springer.com)
  • Non-invasive cardiac screening identified T-wave inversion, abnormalities in right ventricular wall motion, and frequent ventricular extrasystoles as sensitive and specific markers of a JUP mutation. (wikipedia.org)
  • 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. (diva-portal.org)
  • Lemola K, Brunckhorst C, Helfenstein U, Oechslin E, Jenni R, Duru F. Predictors of adverse outcome in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: long term experience of a tertiary care centre. (springermedizin.at)
  • Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia. (springermedizin.at)
  • A comparison of antiarrhythmic-drug therapy with implantable defibrillators in patients resuscitated from near-fatal ventricular arrhythmias. (medscape.com)
  • 2012) Utility of cardiac magnetic resonance in the evaluation of unselected patients with possible arrhythmogenic right ventricular cardiomyopathy. (scirp.org)
  • For patients with apparently normal ventricular function, the potential substrate is less certain. (wikipedia.org)
  • Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. (fpnotebook.com)
  • A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. (malacards.org)
  • Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy. (journals.cz)
  • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (journals.cz)
  • Mutations in plakoglobin are associated with arrhythmogenic right ventricular dysplasia. (wikipedia.org)
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 10, also known as arrhythmogenic right ventricular dysplasia 10 , is related to cardiomyopathy, dilated, 1bb and left ventricular noncompaction 1 . (malacards.org)
  • Right ventricular parietal block, reduced QRS amplitude, epsilon wave, T wave inversion in V1-3 and ventricular tachycardia in the morphology of left bundle branch block are the characteristic changes that reflect the underlying genetic predetermined pathology and pathoelectrophysiology. (biomedsearch.com)
  • Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (cdc.gov)
  • A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. (journals.cz)
  • Additional 3D imaging or phase-contrast flow imaging may be required if a shunt or congenital heart disease is suspected in the differential as a cause of right ventricular dilation (e.g. atrial septal defect, anomalous pulmonary venous drainage). (scmr.org)
  • As the fibrofatty replacement progresses, the ventricular wall becomes thinner and the ventricle begins to dilate. (ecgwaves.com)
  • With pronounced fibrofatty replacement, ventricular aneurysm develops. (ecgwaves.com)
  • The published report of non-sustained ventricular tachycardia during prolonged space flight supports this hypothesis, in that initiation of tachycardia by a late diastolic premature ventricular contraction (PVC) is more consistent with triggered activity than it is with re-entry. (wikipedia.org)
  • An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair. (malacards.org)
  • Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait. (journals.cz)
  • Magnetic resonance and computed tomography imaging of arrhythmogenic right ventricular dysplasia. (journals.cz)
  • Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. (journals.cz)
  • Left ventricular involvement in right ventricular dysplasia. (springermedizin.at)
  • 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)
  • Background: Idiopathic right ventricular arrhythmias (IRVA) are responsive to medical and ablative treatment and have a benign prognosis. (elsevier.com)
  • What are the symptoms of Arrhythmogenic Right Ventricular Dysplasia? (clevelandclinic.org)
  • More detailed information about the symptoms , causes , and treatments of Arrhythmogenic right ventricular dysplasia, familial, 2 is available below. (rightdiagnosis.com)
  • Some of the symptoms of arrhythmogenic right ventricular dysplasia include palpitations, fluttering, and heart skipping a beat, beating too fast or too hard. (onlymyhealth.com)
  • Echocardiography shows global right ventricular dilation. (ecgwaves.com)
  • Frequent ventricular arrhythmias that have not been successfully treated with medical therapy may be treated with radiofrequency ablation. (safebeat.org)
  • Macroscopic examination of the heart of these mice at 8 weeks of age showed massive fibrosis of the entire right ventricular wall that never extended to the left ventricle ( Fig. 1a,b ). (nature.com)
  • Histologically, degradation of cardiomyocytes and macrophage infiltration were observed at the border between the fibrosis and the viable myocardial tissue ( Fig. 1e,g ), indicating that cardiomyocyte degeneration proceeded from the outer part of the right ventricular wall to the inner part. (nature.com)
  • Cardiac magnetic resonance imaging (MRI) confirmed right ventricular (RV) dilatation and revealed marked hypokinesia/akinesia of the lateral wall. (elsevier.pt)
  • 2008) Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (mdc-berlin.de)
  • They had no history or signs of any cardiac disease other than right ventricular dysplasia. (elsevier.com)
  • 2004) Electrocardiographic features of arrhythmogenic right ventricular dysplasia/cardiomyopathy according to disease severity: A need to broaden diagnostic criteria. (scirp.org)