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Journal Article

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


Sperling,  S.
Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society;

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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.

Cite as: http://hdl.handle.net/11858/00-001M-0000-0018-F560-7
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.