Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation

Marwan M Refaat; Paul Tang; Nassier Harfouch; Julianne Wojciak; Pui-Yan Kwok; Melvin Scheinman

doi:10.1016/j.ccep.2015.10.033

Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation

Card Electrophysiol Clin. 2016 Mar;8(1):217-21. doi: 10.1016/j.ccep.2015.10.033. Epub 2016 Jan 16.

Authors

Marwan M Refaat¹, Paul Tang², Nassier Harfouch³, Julianne Wojciak⁴, Pui-Yan Kwok², Melvin Scheinman⁴

Affiliations

¹ 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.
² Institute for Human Genetics, University of California, San Francisco, CA, USA.
³ University of South Florida College of Medicine, Tampa, FL, USA.
⁴ Division of Cardiology, Department of Medicine, University of California San Francisco Medical Center, San Francisco, CA, USA.

PMID: 26920198
DOI: 10.1016/j.ccep.2015.10.033

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.

Keywords: Arrhythmogenic right ventricular cardiomyopathy; PKP2 gene; Palpitations; Syncope.

Publication types

Case Reports
Review

MeSH terms

Arrhythmogenic Right Ventricular Dysplasia* / diagnosis
Arrhythmogenic Right Ventricular Dysplasia* / diagnostic imaging
Arrhythmogenic Right Ventricular Dysplasia* / genetics
Arrhythmogenic Right Ventricular Dysplasia* / physiopathology
Electrocardiography
Frameshift Mutation / genetics*
Humans
Male
Middle Aged
Plakophilins / genetics*
Syncope

Substances

PKP2 protein, human
Plakophilins