Arrhythmogenic right ventricular cardiomyopathy: Progress toward personalized management

Research output: Contribution to journalReview article

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by fibrofatty replacement of the ventricular myocardium, a high risk of ventricular arrhythmias, and progressive ventricular dysfunction. The clinical course is highly variable, and optimal approaches to management remain undefined. ARVC is associated with pathogenic variants in genes encoding the cardiac desmosome. Genetic testing facilitates identification of at-risk family members, but penetrance of ARVC in pathogenic variant carriers is difficult to predict. Participation in endurance exercise is a known key risk factor. However, there remains significant uncertainty about which family member will develop disease and how best to approach longitudinal screening. Our clinically focused review describes how new insights gained from natural history studies, improved understanding of pathogenic mechanisms, and appreciation of genetic and environmental modifiers have set the stage for developing personalized approaches to managing both ARVC patients and their at-risk family members.

Original languageEnglish (US)
Pages (from-to)1-18
Number of pages18
JournalAnnual Review of Medicine
Volume70
DOIs
StatePublished - Jan 27 2019

Keywords

  • arrhythmogenic right ventricular cardiomyopathy
  • desmosome
  • exercise
  • genetic testing
  • implantable cardioverter defibrillator
  • ventricular tachycardia

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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