13th International Congress
THE "NEW FRONTIERS"
OF ARRHYTHMIAS 1998

January 24-31, 1998
Marilleva, Trento, Italy

RT-209

Arrhythmogenic right ventricular cardiomyopathy: a report of 162 familial cases

Andrea Nava, Barbara Bauce, Carla Villanova, Alessandra Rampazzo*, Michela Muriago, Luciano Daliento, Cristina Basso**, Gianfranco Buja, Gian Antonio Danieli*, Gaetano Thiene**.
Departments of Cardiology, *Biology and **Pathology, University of Padua, Italy

Introduction

According to current knowledge arrhythmogenic right ventricular cardiomyopathy (ARVC) is due to a progressive myocardial atrophy with fibro-fatty substitution^1-3, mostly localized in the right ventricle. The etiology of the disease still remains unknown.

Many etiological hypotheses have been proposed, from dysplastic to inflammatory^2,4-12, but several recent reports point to a strong genetic determination.

The genetic hypothesis is founded on the presence of familiarity, on the recent discovery of several genes causing the disease, and on the demonstration that apoptosis, a programmed cellular death process, can provoke myocardial atrophy which is responsible for the disease^13-17.

Familial occurrence of ARVC was noted for the first time by Marcus in 1982⁴. In the following years many affected families^18-33 were diagnosed but the cases reported in the literature were mostly sporadic³⁴. Thus, it is not possible to exclude that the disease could have different pathogenesis because the pathological process, the nonischemic myocardial death, is nonspecific.

The results of a study performed on 64 families in which the proband had a diagnosis of ARVC confirmed by histological examination are reported.

The aim of the study was to verify the incidence of familial occurrence and whether genetic etiology is the most common in ARVC.

The subjects have been followed for a long period making it possible to analyze the clinical spectrum and to clarify the natural history of the disease.