Key result
More than 300 pathogenic mutations in 12 genes have been identified for arrhythmogenic right ventricular cardiomyopathy, though genetic risk stratification remains unestablished.
Despite the identification of over 300 pathogenic mutations in 12 genes for ARVC, genetic risk stratification remains unestablished.
Genetic assessment does not yet guide ARVC risk stratification; leaves open the impact of complex inheritance on outcomes.
Arrhythmogenic right ventricular cardiomyopathy is a rare clinical entity characterised by fibro-fatty replacement of myocardium, mainly involving right ventricular free wall, leading to malignant electrical instability and sudden cardiac death. The disease is inherited in up to 50% of cases, with incomplete penetrance and variable phenotypic expression. To date, more than 300 pathogenic mutations have been identified in 12 genes, mainly with autosomal dominant inheritance. Here, we focus on recent advances in the genetics of arrhythmogenic right ventricular cardiomyopathy. Despite continuous improvements, current genotype-phenotype studies have not contributed yet to establish a genetic risk stratification of the disease.
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Campuzano et al. (2013) conducted a review in Arrhythmogenic right ventricular cardiomyopathy. More than 300 pathogenic mutations in 12 genes have been identified for arrhythmogenic right ventricular cardiomyopathy, though genetic risk stratification remains unestablished.
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