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

Lookup NU author(s): Dr Thahira Rahman, Professor Bernard Keavney, Professor Judith Goodship


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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.

Publication metadata

Author(s): van Engelen K, Postma AV, van de Meerakker JBA, Roos-Hesselink JW, Helderman-van den Enden ATJM, Vliegen HW, Rahman T, Baars MJH, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AFM, Keavney B, Goodship J, Klaassen S, Mulder BJM

Publication type: Review

Publication status: Published

Journal: Netherlands Heart Journal

Year: 2013

Volume: 21

Issue: 3

Pages: 113-117

Print publication date: 01/03/2013

ISSN (print): 1568-5888

ISSN (electronic): 1876-6250



DOI: 10.1007/s12471-011-0141-1