title: [Current limitations and new perspectives in the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia].
abstract: 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.
authors.affiliation: U.O. di Cardiologia, A.O. Ospedale Maggiore, Crema (CR). g.inama@hcrema.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Inama
authors.forename: Claudio
authors.initials: C
authors.lastname: Pedrinazzi
authors.forename: Pietro
authors.initials: P
authors.lastname: Gazzaniga
authors.forename: Chiara
authors.initials: C
authors.lastname: Reduzzi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Donato
authors.forename: Claudia Vergara
authors.initials: CV
authors.lastname: Munoz
authors.forename: Andrea
authors.initials: A
authors.lastname: Pacchioni
authors.forename: Lorenza
authors.initials: L
authors.lastname: Inama
authors.forename: Walter
authors.initials: W
authors.lastname: Della Frera
authors.forename: Ornella
authors.initials: O
authors.lastname: Durin
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003952:Diagnostic Imaging / Q000379:methods; D004562:Electrocardiography; D005544:Forecasting; D006801:Humans