[Current limitations and new perspectives in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia].

: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle. In ARVC/D there is a progressive replacement of right ventricular myocardium with fatty and fibrous tissue and ventricular arrhythmias of right ventricular origin. The precise prevalence of ARVC/D has been estimated to vary between 1 in 1000 to 1 in 5000 of the general population. ARVC accounts for approximately 3-10% of sudden deaths in young people under the age of 65 years. The purpose of this paper is to review the current knowledge of ARVC/D and its management. Particular attention will be focused on some of the recent advances in the understanding of the genetic basis of ARVC/D. Increasing evidence suggests that ARVC/D is a disease of desmosomal dysfunction. Attention will also be focused on the new and somewhat controversial concept that ARVC/D may present primarily as a left ventricular disease. In our experience ARVC/D typically presents as a right ventricular disease, unless a patient has advanced disease. Diagnosis of ARVC/D is challenging and requires a comprehensive evaluation with both non-invasive and invasive testing.