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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:DOI 10.1007/s12471-011-0141-1.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-F560-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-F565-E
Genre: Journal Article

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van Engelen.pdf (Publisher version), 165KB
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Copyright Date:
2011
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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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Free keywords: heart defects, congenital ebstein anomaly genetics cardiomyopathy isolated noncompaction of the ventricular myocardium left-ventricular noncompaction hypertrophic cardiomyopathy distinct cardiomyopathy septal-defects non-compaction myocardium adults hypertrabeculation classification malformation
 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 beta-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: 2011-05-212013-03-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: Other: WOS:000315388100002
DOI: DOI 10.1007/s12471-011-0141-1
ISSN: 1568-5888
URI: ://WOS:000315388100002http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578524/pdf/12471_2011_Article_141.pdf
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Title: Netherlands Heart Journal
  Alternative Title : Neth Heart J
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 21 (3) Sequence Number: - Start / End Page: 113 - 117 Identifier: -