title: [Clinical and genetic findings in arrhythmogenic right ventricular cardiomyopathy].
abstract: Arrhythmogenic right ventricular cardiomyopathy is an inherited disease of the cardiomyocyte. The disease is diagnosed as a syndrome based on criteria that include ventricular arrhythmias, electrocardiographic findings, imaging, tissue characteristics and family history. An implantable cardioverter-defibrillator is generally recommended. Novel insight into the molecular genetic background has established that the disease may be associated with mutation in the genes encoding desmosomal proteins. Genetic testing is expected to facilitate the diagnostic workup and treatment of patients and their families.
authors.affiliation: Hjertemedicinsk Afdeling B, Hjertecentret, Rigshospitalet, 2100 København Ø, Denmark. alexhc@dadlnet.dk
authors.forename: Alex Hørby
authors.initials: AH
authors.lastname: Christensen
authors.forename: Henning
authors.initials: H
authors.lastname: Bundgaard
authors.forename: Stig
authors.initials: S
authors.lastname: Haunsøe
authors.forename: Jesper Hastrup
authors.initials: JH
authors.lastname: Svendsen
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002648:Child; D017147:Defibrillators, Implantable; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D051191:Plakophilins / Q000235:genetics; D018570:Risk Assessment; D013577:Syndrome
chemical_list: D051191:Plakophilins