[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.
Inama
Giuseppe
G
U.O. di Cardiologia, A.O. Ospedale Maggiore, Crema (CR). g.inama@hcrema.it
Pedrinazzi
Claudio
C
Gazzaniga
Pietro
P
Reduzzi
Chiara
C
Donato
Giorgio
G
Munoz
Claudia Vergara
CV
Pacchioni
Andrea
A
Inama
Lorenza
L
Della Frera
Walter
W
Durin
Ornella
O
D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003952:Diagnostic Imaging / Q000379:methods; D004562:Electrocardiography; D005544:Forecasting; D006801:Humans