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European Heart Journal Advance Access originally published online on November 14, 2006
European Heart Journal 2007 28(5):581-588; doi:10.1093/eurheartj/ehl380
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© The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype–phenotype characterization of familial disease

Petros Syrris1, Deirdre Ward1, Angeliki Asimaki1, Alison Evans1, Srijita Sen-Chowdhry1, Sian E. Hughes2 and William J. McKenna1,*

1 Department of Medicine, The Heart Hospital, University College London and University College London Hospitals Trust, 16–18 Westmoreland Street, London W1G 8PH, UK
2 Department of Histopathology, Royal Free and University College Medical School, University College London, UCL Hospitals NHS Trust, London, UK

Received 12 July 2006; revised 3 October 2006; accepted 26 October 2006; online publish-ahead-of-print 14 November 2006.

* Corresponding author. Tel: +44 20 7573 8841; fax: +44 20 7573 8859. E-mail address: william.mckenna{at}uclh.org

See page 529 for the editorial comment on this article (doi:10.1093/eurheartj/ehl530)

Aims Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) but clinical information regarding the associated phenotype is at present limited. In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation.

Methods and results We investigated 86 Caucasian ARVC patients for mutations in DSG2 by direct sequencing and detected eight novel mutations in nine probands. Clinical evaluation of family members with DSG2 mutations demonstrated penetrance of 58% using Task Force criteria, or 75% using proposed modified criteria. Morphological abnormalities of the right ventricle were evident in 66% of gene carriers, left ventricular (LV) involvement in 25%, and classical right precordial T-wave inversion only in 26%. Sustained ventricular arrhythmia was present in 8% and a family history of sudden death/aborted sudden death in 66%.

Conclusion Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity with LV involvement a prominent feature. The low prevalence of classical ECG changes highlights the need to expand current diagnostic criteria to take account of LV disease, childhood disease expression, and incomplete penetrance.

Key Words: Arrhythmia • Cardiomyopathy • Cell adhesion molecules • Genetics


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