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Arrhythmogenic Right Ventricular Cardiomyopathy.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Apr 18 [updated 2017 May 25].

Author information

1
Center for Genetic Medicine, Northwestern Feinberg School of Medicine, Chicago, Illinois
2
Cardiovascular Genetics Consultant, Elmhurst, Illinois

Excerpt

CLINICAL CHARACTERISTICS:

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).

DIAGNOSIS/TESTING:

The diagnosis of ARVC is made using a combination of noninvasive and invasive tests to evaluate cardiac structure and rhythm. The common genetic causes known to be associated with ARVC are: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43. Less common genetic causes include CTNNA3, DES, LMNA, PLN, RYR2, TGFB3, and TTN. A subset of these 13 genes encode components of the desmosome.

MANAGEMENT:

Treatment of manifestations: Management is individualized and focused on prevention of syncope, cardiac arrest, and sudden death through use of antiarrhythmic medication and an implantable cardioverter-defibrillator. Heart transplantation is considered when ARVC has progressed to right or left ventricular heart failure, although severe diffuse biventricular involvement simulating dilated cardiomyopathy and requiring heart transplantation appears to be rare. Agents/circumstances to avoid: Regular, vigorous athletic activity including competitive athletics should be discouraged because of the strain caused on the right heart and its promotion of ARVC and associated arrhythmias. Evaluation of relatives at risk: Molecular genetic testing of at-risk relatives in families in which the pathogenic variant is known; those with the family-specific pathogenic variant warrant annual clinical screening of cardiac function and rhythm between ages ten and 50 years. If genetic testing has not been performed or did not identify a pathogenic variant in an affected family member, clinical screening for cardiac involvement is recommended for asymptomatic at-risk first-degree relatives every three to five years after age ten years.

GENETIC COUNSELING:

ARVC is typically inherited in an autosomal dominant manner. A proband with autosomal dominant ARVC may have the disorder as a result of a de novo pathogenic variant. The proportion of cases caused by a de novo variant is unknown. Each child of an individual with autosomal dominant ARVC has a 50% chance of inheriting the pathogenic variant. ARVC may also be inherited in a digenic manner (i.e., a single allele of two different genes has a pathogenic variant). Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant(s) have been identified in the family.

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