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  Ebstein´s anomaly may be caused by mutations in the sarcomere protein gene MYH7

van Engelen, K., Postma, A. V., van de Meerakker, J. B. A., Roos-Hesselink, J. W., Helderman-van den Enden, A. T. J. M., Vliegen, H. W., et al. (2013). Ebstein´s anomaly may be caused by mutations in the sarcomere protein gene MYH7. Netherlands Heart Journal, 21(3), 113-117. doi:10.1007/s12471-011-0141-1.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F0B1-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-84CF-F
Genre: Journal Article

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van Engelen.pdf (Publisher version), 172KB
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© The Author(s) 2011. This article is published with open access at Springerlink.com
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 Creators:
van Engelen, K., Author
Postma, A. V., Author
van de Meerakker, J. B. A., Author
Roos-Hesselink, J. W., Author
Helderman-van den Enden, A. T. J. M., Author
Vliegen, H. W., Author
Rahman, T., Author
Baars, M. J. H., Author
Sels, J.-W., Author
Bauer, U., Author
Pickardt, T., Author
Sperling, S.1, Author              
Moorman, A. F. M., Author
Keavney, B., Author
Goodship, J., Author
Klaassen, S., Author
Mulder, B. J. M., Author
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Ebstein’s anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein’s anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β-myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein’s anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein’s anomaly and LVNC and its implications for the clinical care for patients and their family members.

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Language(s): eng - English
 Dates: 2011-05-212013-03
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1007/s12471-011-0141-1
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Title: Netherlands Heart Journal
Source Genre: Journal
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Publ. Info: Springer
Pages: - Volume / Issue: 21 (3) Sequence Number: - Start / End Page: 113 - 117 Identifier: -