Abstract
This chapter discusses current evidence in the genotype to phenotype correlation of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). Due to incomplete penetrance and variable expressivity, the genotype to phenotype relationship is often difficult to predict. ARVC/D is classically thought of as a disease of desmosomal proteins, as mutations in five desmosomal genes account for a majority of cases (DSP, DSG2, DSC2, JUP, and PKP2). Other non-desmosomal genes have also been implicated in disease pathogenesis (TGFB3, TMEM43, TP63, DES, LMNA, CTNNA3, PLN, and TTN), but their roles are less well understood due to insufficient data and overlap with other diseases. Emerging evidence is summarized and suggests an expanding role for ARVC/D genotype and the relationship to prognosis and management.
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