PATHOGENIC MUTATIONS, CLINICAL AND HISTOPATHOLOGIC FINDINGS IN A LARGE SERIES OF PROBANDS AFFECTED BY ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease of genetic origin that can cause sudden death, especially in young people. In many cases clinical diagnosis is not easily achieved and for this reason the availability of genetic tests is fundamental for presymptomatic diagnosis. In the last years five ARVC disease causing genes have been detected, three in our University. The next step will be the screening of these genes in affected patients, with the aim to assess the prevalence of different ARVC gene mutations and the related clinical features. The results of the study will be of great help to evaluate therapeutical strategies in affected subjects.