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J Med Genet doi:10.1136/jmedgenet-2013-101523
  • Review

Genetics of arrhythmogenic right ventricular cardiomyopathy

  1. Ramon Brugada1
  1. 1Department of Medicine, Cardiovascular Genetics Center, University of Girona—IdIBGi, Girona, Spain
  2. 2Department of Cardiology, Hospital Puerta de Hierro, Madrid, Spain
  3. 3Institute of Legal Medicine, Catholic University, School of Medicine, Roma, Italy
  4. 4Arrhythmia Unit, Hospital Clinic Barcelona, University of Barcelona, Barcelona, Spain
  5. 5Arrhythmia Unit, Cardiology Section, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain
  6. 6Cardiovascular Division, UZ Brussel-VUB, Brussels, Belgium
  1. Correspondence to Dr Ramon Brugada, Department of Medicine, Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona-IDIBGI, C/Pic de Peguera 15, Girona 17003, Spain; ramon{at}brugada.org
  • Received 9 January 2013
  • Accepted 29 January 2013
  • Published Online First 6 March 2013

Abstract

Arrhythmogenic right ventricular cardiomyopathy is a rare clinical entity characterised by fibro-fatty replacement of myocardium, mainly involving right ventricular free wall, leading to malignant electrical instability and sudden cardiac death. The disease is inherited in up to 50% of cases, with incomplete penetrance and variable phenotypic expression. To date, more than 300 pathogenic mutations have been identified in 12 genes, mainly with autosomal dominant inheritance. Here, we focus on recent advances in the genetics of arrhythmogenic right ventricular cardiomyopathy. Despite continuous improvements, current genotype–phenotype studies have not contributed yet to establish a genetic risk stratification of the disease.

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