title: Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.
abstract: Arrhythmogenic right ventricular cardiomyopathy is a rare cardiomyopathy that might be asymptomatic or symptomatic, causing palpations or syncope, and might lead to sudden cardiac death. It is recommended that physical exertion be reduced. It is also recommended that those with syncope and ventricular tachycardia/ventricular fibrillation have an implantable cardioverter-defibrillator placed. β-Blockers, antiarrhythmic drugs, and radiofrequency ablation should be used to control the ventricular arrhythmia burden in arrhythmogenic right ventricular cardiomyopathy.
authors.affiliation: Division of Cardiology, Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Riad el Solh, Beirut 1107.2020, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon; Cardiac Electrophysiology, Cardiology, Department of Internal Medicine, American University of Beirut Faculty of Medicine and Medical Center, 3 Dag Hammarskjold Plaza, 8th Floor, New York, NY 10017, USA. Electronic address: mr48@aub.edu.lb.
authors.forename: Marwan M
authors.initials: MM
authors.lastname: Refaat
authors.affiliation: Institute for Human Genetics, University of California, San Francisco, CA, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Tang
authors.affiliation: University of South Florida College of Medicine, Tampa, FL, USA.
authors.forename: Nassier
authors.initials: N
authors.lastname: Harfouch
authors.affiliation: Division of Cardiology, Department of Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA.
authors.forename: Julianne
authors.initials: J
authors.lastname: Wojciak
authors.affiliation: Institute for Human Genetics, University of California, San Francisco, CA, USA.
authors.forename: Pui-Yan
authors.initials: PY
authors.lastname: Kwok
authors.affiliation: Division of Cardiology, Department of Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA.
authors.forename: Melvin
authors.initials: M
authors.lastname: Scheinman
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D004562:Electrocardiography; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051191:Plakophilins / Q000235:genetics*; D013575:Syncope
chemical_list: C495337:PKP2 protein, human; D051191:Plakophilins
keywords: Arrhythmogenic right ventricular cardiomyopathy; PKP2 gene; Palpitations; Syncope