Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

La Gerche, A.; Robberecht, C.; Kuiperi, C.; Nuyens, D.; Willems, R.; de Ravel, T.; Matthijs, G.; Heidbüchel, H.

doi:10.1136/HRT.2009.189621

Title

Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

Author

La Gerche, A.

Robberecht, C.

Kuiperi, C.

Nuyens, D.

Willems, R.

de Ravel, T.

Matthijs, G.

Heidbüchel, H.

Abstract

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.

Language

English

Source (journal)

Heart : official journal of the British Cardiac Society / British Cardiac Society; British Cardiovascular Society [London] - London, 1996, currens

Publication

London : BMJ , 2010

ISSN

1355-6037 [print]

1468-201X [online]

DOI

10.1136/HRT.2009.189621

Volume/pages