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European Heart Journal Advance Access originally published online on August 6, 2009
European Heart Journal 2009 30(21):2593-2598; doi:10.1093/eurheartj/ehp306
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers

Michelle Michels1, Osama I.I. Soliman1, Judith Phefferkorn2, Yvonne M. Hoedemaekers2, Marcel J. Kofflard3, Dennis Dooijes2, Danielle Majoor-Krakauer2 and Folkert J. Ten Cate1,*

1 Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, The Netherlands
2 Department of Clinical Genetics, Erasmus MC Rotterdam, The Netherlands
3 the Albert Schweitzer Hospital, Dordrecht, The Netherlands

Received 12 January 2009; revised 16 April 2009; accepted 12 May 2009; online publish-ahead-of-print 6 August 2009.

* Corresponding author. Tel: +31 10 703 3533, Fax: +31 10 703 5489, Email: f.j.tencate{at}erasmusmc.nl

See page 2558 for the editorial comment on this article (doi:10.1093/eurheartj/ehp307)

Aims: To investigate the outcome of cardiac evaluation and the risk stratification for sudden cardiac death (SCD) in asymptomatic hypertrophic cardiomyopathy (HCM) mutation carriers.

Methods and results: Seventy-six HCM mutation carriers from 32 families identified by predictive DNA testing underwent cardiac evaluation including history, examination, electrocardiography, Doppler echocardiography, exercise testing, and 24 h Holter monitoring. The published diagnostic criteria for HCM in adult members of affected families were used to diagnose HCM. Thirty-three (43%) men and 43 (57%) women with a mean age of 42 years (range 16–79) were examined; in 31 (41%) HCM was diagnosed. Disease penetrance was age related and men were more often affected than women (P = 0.04). Myosin Binding Protein C (MYBPC3) mutation carriers were affected at higher age than Myosin Heavy Chain (MYH7) mutation carriers (P = 0.01). Risk factors for SCD were present in affected and unaffected carriers.

Conclusion: Hypertrophic cardiomyopathy was diagnosed in 41% of carriers. Disease penetrance was age dependent, warranting repeated cardiologic evaluation. The MYBPC3 mutation carriers were affected at higher age than MYH7 mutation carriers. Risk factors for SCD were present in carriers with and without HCM. Follow-up studies are necessary to evaluate the effectiveness of risk stratification for SCD in this population.

Key Words: Hypertrophic cardiomyopathy • Mutation carrier • Family screening


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Related articles in EHJ:

Sudden cardiac death risk in hypertrophic cardiomyopathy
Steve R. Ommen and Bernard J. Gersh
EHJ 2009 30: 2558-2559. [Extract] [Full Text]  



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S. R. Ommen and B. J. Gersh
Sudden cardiac death risk in hypertrophic cardiomyopathy
Eur. Heart J., November 1, 2009; 30(21): 2558 - 2559.
[Full Text] [PDF]


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