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European Heart Journal Advance Access published online on October 17, 2007
European Heart Journal, doi:10.1093/eurheartj/ehm429
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2007. For permissions please email: journals.permissions@oxfordjournals.org

Cardiac ß-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

Yvonne M. Hoedemaekers1, Kadir Caliskan2, Danielle Majoor-Krakauer1, Ingrid van de Laar1, Michelle Michels2, Maarten Witsenburg3, Folkert J. ten Cate2, Maarten L. Simoons2 and Dennis Dooijes1,*

1 Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015GE Rotterdam, The Netherlands
2 Department of Cardiology, Erasmus Medical Centre, Rotterdam, The Netherlands
3 Department of Paediatric Cardiology, Erasmus Medical Centre, Rotterdam, The Netherlands

Received 24 April 2007; revised 27 August 2007; accepted 30 August 2007.

* Corresponding author. Tel: +31 10 4087197; fax: +31 10 4089489. E-mail address: d.dooijes{at}erasmusmc.nl

Cardiomyopathies are classified according to distinct morphological characteristics. They occur relatively frequent and are an important cause of mortality and morbidity. Isolated ventricular non-compaction or non-compaction cardiomyopathy (NCCM) is characterized by an excessively thickened endocardial layer with deep intertrabecular recesses, reminiscent of the myocardium during early embryogenesis.

Aims: Autosomal-dominant as well as X-linked inheritance for NCCM has been described and several loci have been associated with the disease. Nevertheless, a major genetic cause for familial NCCM remains to be identified.

Methods and Results: We describe, in two separate autosomal-dominant NCCM families, the identification of mutations in the sarcomeric cardiac ß-myosin heavy chain gene (MYH7), known to be associated with hypertrophic cardiomyopathy (HCM), restricted cardiomyopathy (RCM), and dilated cardiomyopathy (DCM).

Conclusion: These results confirm the genetic heterogeneity of NCCM and suggest that the molecular classification of cardiomyopathies includes an MYH7-associated spectrum of NCCM with HCM, RCM, and DCM.

Key Words: Non-compaction cardiomyopathy • ß-Myosin heavy chain gene • Left ventricular non-compaction cardiomyopathy


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