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

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Item Type:Review
Title:Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7
Creators Name:van Engelen, K. and Postma, A.V. and van de Meerakker, J.B.A. and Roos-Hesselink, J.W. and Helderman-van den Enden, A.T.J.M. and Vliegen, H.W. and Rahman, T. and Baars, M.J.H. and Sels, J.W. and Bauer, U. and Pickardt, T. and Sperling, S.R. and Moorman, A.F.M. and Keavney, B. and Goodship, J. and Klaassen, S. and Mulder, B.J.
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.
Keywords:Cardiomyopathy, Congenital Heart Defects, Ebstein Anomaly, Genetics, Isolated Noncompaction Of The Ventricular Myocardium
Source:Netherlands Heart Journal
ISSN:1568-5888
Publisher:Bohn Stafleu van Loghum (The Netherlands)
Volume:21
Number:3
Page Range:113-117
Date:March 2013
Official Publication:https://doi.org/10.1007/s12471-011-0141-1
PubMed:View item in PubMed

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