Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy

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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC), a predominantly familial and autosomal dominant inherited heart muscle disorder, is pathologically characterized by progressive right ventricular myocardial atrophy and fibrofatty replacement and clinically by ventricular arrhythmias with left bundle branch block morphology. Symptoms poorly reflect disease severity, with disease commonly first manifesting as sudden death among the young. The inflammatory and apoptotic theories first put forth to explain ARVC pathogenesis do not explain all cases, and advances in genetic technology have allowed to elucidate genetic mechanisms, with desmosomal mutations attracting much attention. As reviewed here, various non-mutually exclusive pathogenetic mechanisms therefore appear to underlie ARVC.

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Que, D., Yang, P., Song, X., & Liu, L. (2015). Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Europace, 17(12), 1770–1776. https://doi.org/10.1093/europace/euv042

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