Genetic analysis in families with arrhythmogenic right ventricular cardiomyopathy is useful for presymptomatic diagnosis and genetic counseling, but does not contribute to risk stratification.
Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular (RV) free wall. There is a familial occurrence in about 50% of cases, with autosomal dominant inheritance with variable penetrance and polymorphic phenotypic expression, and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the extensive form of ARVCM (arrhythmogenic right ventricular cardiomyopathy). In this review, we focus on the some candidate genes mutations and information on some genotype-phenotype correlation in the ARVD. Our findings are in agreement with those of European Society of Cardiology who stated that: genetic analysis is usefull in families with RV cardiomyopathy because whenever a pathogenetic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to monitor the development of the disease and to assess the risk of transmitting the disease offspring. On the basis of current knowledge, genetic analysis does not contribute to risk stratification of arrhythmogenic RV cardiomyopathy.
Moric‐Janiszewska et al. (Thu,) conducted a review in Arrhythmogenic right ventricular dysplasia (ARVD). Genetic analysis was evaluated. Genetic analysis in families with arrhythmogenic right ventricular cardiomyopathy is useful for presymptomatic diagnosis and genetic counseling, but does not contribute to risk stratification.