Dysplasie ventriculaire droite arythmogène

Arrhythmogenic right ventricular dysplasia (ARVD) is a cardiomyopathy of the right ventricle due to adipose infiltration of the myocardium with surviving myocardial fibres surrounded by fibrosis. It gives rise to right ventricular dilatation, which starts locally before becoming diffuse, and, sometimes in the late stages, to symptoms of cardiac failure. It may also be associated with left ventricular involvement. The main complication is sudden death due to a ventricular arrhythmia. ARVD is responsible for 3 to 10% of all unexplained sudden deaths before 65 years of age. ARVD has a genetic origin, with some recessive but a majority of autosomal dominant forms. Nine different loci have been reported in the autosomal dominant forms and four genes have been identified. A number of these mutations is responsible for abnormalities of cellular junction, more specifically of the desmosomes. These studies have shown several different forms of ARVD and, consequently, the term arrhythmogenic right ventricular cardiomyopathy would be a more appropriate terminology for the pathology. This paper reviews the diagnostic, genetic and therapeutic aspects of the disease. In particular, the evaluation of the arrhythmic risk is underlined as it is an important and difficult problem which has not yet been satisfactorily resolved. It requires integration of clinical and electrocardiographic criteria with morphological and functional imaging methods. Molecular biology could play a role in the prognostic assessment in the future.