Nature and nurture in arrhythmogenic right ventricular cardiomyopathy -a clinical perspective

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterised by frequent ventricular arrhythmias and slowly progressive predominant RV dysfunction. Up to two-thirds of ARVD/C patients have mutations in genes encoding the cardiac desmosome. Mutations in other genes are increasingly recognised. Inheritance of ARVD/C is generally autosomal dominant with reduced age-related penetrance and significant variable expressivity. While the full explanation for this phenotypic heterogeneity remains unclear, there is increasing evidence that exercise plays a major role in disease penetrance and arrhythmic risk. The disproportionate representation of athletes among ARVD/C patients has long been noted. Recently, the association of exercise with earlier onset and more severe arrhythmic and structural disease has been documented. This article reviews current evidence regarding the association of genotype, exercise and clinical outcomes and discusses the emerging paradigm in which genetic predisposition and environmental factors (exercise) interact around a threshold for phenotypic expression of ARVD/C.

Original languageEnglish (US)
Pages (from-to)156-162
Number of pages7
JournalArrhythmia and Electrophysiology Review
Issue number3
StatePublished - Dec 1 2015


  • Arrhythmia
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia
  • Desmosome
  • Exercise
  • Genetics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)


Dive into the research topics of 'Nature and nurture in arrhythmogenic right ventricular cardiomyopathy -a clinical perspective'. Together they form a unique fingerprint.

Cite this