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Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin
  1. A La Gerche1,3,
  2. C Robberecht2,
  3. C Kuiperi2,
  4. D Nuyens1,
  5. R Willems1,
  6. T de Ravel2,
  7. G Matthijs2,
  8. H Heidbüchel1,3
  1. 1Department of Cardiovascular Medicine, University Hospital, University of Leuven, Belgium
  2. 2Centre for Human Genetics, University Hospital, University of Leuven, Belgium
  3. 3Department of Medicine, St Vincent's Hospital, University of Melbourne, Australia
  1. Correspondence to Prof Hein Heidbüchel, Cardiology-Electrophysiology, University Hospital Gasthuisberg Herestraat 49 B-3000 Leuven, Belgium Europe; hein.heidbuchel{at}


Objective To determine the prevalence of desmosomal gene mutations in athletes with complex arrhythmias (VA) of right ventricular (RV) origin and structural RV abnormalities to evaluate whether there is sufficient genetic overlap with arrhythmogenic right ventricular cardiomyopathy (ARVC) to consider them the same or different entities.

Design Observational cohort

Setting Tertiary hospital referrals

Patients Forty-seven consecutive athletes (age 42 (11) years) with complex VA of RV morphology (excluding idiopathic right ventricular outflow tract ventricular tachycardia), who performed 14 (9) h/week of moderate to intense sport practise for 19 (9) years.

Interventions Clinical evaluation (detailed sports history, multi-modality imaging, electrophysiological study) and sequencing of five candidate desmosomal genes.

Results A clinical diagnosis of definite or suspected ARVC by task force criteria (TFC) was met in 24 (51%) and 17 (36%), respectively. ARVC classification was not related to the rate of major arrhythmic events (p=0.28). Pathogenic mutations (four novel) were identified in six athletes (12.8%), which is below published rates for familial ARVC (27–52%). Moreover, only two athletes had a suggestive family history. Severe RV dysfunction was more frequent in mutation carriers (33% vs 2%, p=0.04), but otherwise TFC features were similar to those without mutations. No mutations were found in the 20 athletes performing more than average weekly exercise, yet all met the criteria for definite or suspected ARVC.

Conclusions In this athletic cohort, we found lower than expected rates of desmosomal gene mutations, particularly among those performing the most exercise. This adds further weight to the hypothesis that an ARVC-like phenotype may be acquired through intense exercise without an identifiable genetic predisposition.

  • Exercise
  • arrhythmogenic right ventricular cardiomyopathy
  • desmosome
  • athlete
  • genetics
  • ventricular arrhythmias
  • arrhythmic right ventricular dyplasia
  • ventricular tachycardia
  • exercise, genetics
  • dyplasia

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  • Funding The project was supported by a grant from the Jean Standaert Foundation. ALaG is supported by a research scholarship from the Australian National Health & Medical Research Council and the National Heart Foundation.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the University Hospital, Catholic University of Leuven, Belgium.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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