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

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

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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 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.
Original languageUndefined/Unknown
Pages (from-to)113-117
Number of pages5
JournalNetherlands Heart Journal
Volume21
Issue number3
DOIs
Publication statusPublished - 2013

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