Skip Navigation


European Heart Journal Advance Access originally published online on October 17, 2007
European Heart Journal 2007 28(22):2732-2737; doi:10.1093/eurheartj/ehm429
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
28/22/2732    most recent
ehm429v1
Right arrow E-letters: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when E-letters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (9)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Hoedemaekers, Y. M.
Right arrow Articles by Dooijes, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hoedemaekers, Y. M.
Right arrow Articles by Dooijes, D.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

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; online publish-ahead-of-print 17 October 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


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Circ Cardiovasc GenetHome page
L. M. Dellefave, P. Pytel, S. Mewborn, B. Mora, D. L. Guris, S. Fedson, D. Waggoner, I. Moskowitz, and E. M. McNally
Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation
Circ Cardiovasc Genet, October 1, 2009; 2(5): 442 - 449.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
L. Dellefave and E. M. McNally
Sarcomere Mutations in Cardiomyopathy, Noncompaction, and the Developing Heart
Circulation, June 3, 2008; 117(22): 2847 - 2849.
[Full Text] [PDF]

Home page
 Eur Heart JHome page
T. Germans, A. A.M. Wilde, and A. C. van Rossum
Non-compaction: a distinct cardiomyopathy or non-specific morphological trait?
Eur. Heart J., April 1, 2008; 29(7): 949 - 950.
[Full Text] [PDF]

Home page
 Eur Heart JHome page
D. Dooijes
Non-compaction: a distinct cardiomyopathy or non-specific morphological trait?: reply
Eur. Heart J., April 1, 2008; 29(7): 950 - 951.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.