Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia, is a heritable heart-muscle disorder that predominantly affects the right ventricle. Progressive loss of right ventricular myocardium and its replacement by fibrofatty tissue is the pathological hallmark of the disease. 1 ARVC is one of the leading causes of arrhythmic cardiac arrest in young people and athletes. Since the original report by Marcus and colleagues was published in 1982, describing 24 affected patients, 2 there have been substantial advances in our understanding of the pathogenesis, clinical manifestations, and long-term outcome of the disorder. The disease was initially designated as a dysplasia because it was thought to be a congenital defect in the development of the right ventricular myocardium. The subsequent discovery that the disease is caused by a genetic defect in the cardiac desmosomes has led to its recognition as a cardiomyopathy and its inclusion in the classification of cardiomyopathies by the American Heart Association. 3 This article focuses on our current understanding of the pathogenesis of ARVC, as well as diagnostic criteria and approaches to risk stratification and therapy.