title: Arrhythmogenic right ventricular cardiomyopathy: the challenge of genetic interpretation in clinically suspected cases.
abstract: This is the case of a 43-year-old Caucasian man with frequent episodes of paroxysmal atrial fibrillation (AF) and normal resting electrocardiogram (ECG), who fulfilled two minor diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC): late potentials by signal-averaged ECG and regional right ventricular outflow tract (RVOT) dyskinesia with mildly dilated RVOT end-diastolic diameter. Genetic test results revealed a disease-associated missense mutation in DSC2 (p.E102K), adding a major diagnostic criterion according to recently published modified Task Force Criteria. However, 2 years after successful ablative therapy for AF, the patient remains completely asymptomatic, without any clinical signs of ARVC. Both ventricular and supraventricular arrhythmias had vanished after AF ablation. Our patient mainly suffered AF without significant ventricular arrhythmias, a very uncommon clinical presentation of ARVC.
authors.affiliation: Unit of Inherited Cardiovascular Diseases, 1st Department of Cardiology, Athens University Medical School, Athens, Greece.
authors.forename: Aris
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Apostolos-Ilias
authors.initials: AI
authors.lastname: Vouliotis
authors.forename: Nikos
authors.initials: N
authors.lastname: Protonotarios
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stefanadis
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics / Q000601:surgery; D017115:Catheter Ablation; D051187:Desmocollins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: C081561:DSC2 protein, human; D051187:Desmocollins