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.

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