The role of genetics in cardiovascular disease: Arrhythmogenic cardiomyopathy

Cynthia A. James, Petros Syrris, J. Peter Van Tintelen, Hugh Calkins

Research output: Contribution to journalReview article

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden cardiac death is elevated in ACM patients and can be the presenting symptom particularly in younger individuals and athletes. This review describes current understanding of the genetic architecture of ACM and molecular mechanisms of ACM pathogenesis. We consider an emerging threshold model for ACM inheritance in which multiple factors including pathogenic variants in known ACM genes, genetic modifiers, and environmental exposures, particularly exercise, are required to reach a threshold for disease expression. We also review best practices for integrating genetics-including recent discoveries-in caring for ACM families and emphasize the utility of genotype for both management of affected individuals and predictive testing in family members.

Original languageEnglish (US)
Pages (from-to)1393-1400
Number of pages8
JournalEuropean heart journal
Volume41
Issue number14
DOIs
StatePublished - Apr 7 2020

Keywords

  • Arrhythmogenic cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • Cardiovascular genetics
  • Genetic counselling

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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