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

Authors :
van Engelen K
Postma AV
van de Meerakker JB
Roos-Hesselink JW
Helderman-van den Enden AT
Vliegen HW
Rahman T
Baars MJ
Sels JW
Bauer U
Pickardt T
Sperling SR
Moorman AF
Keavney B
Goodship J
Klaassen S
Mulder BJ
Source :
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2013 Mar; Vol. 21 (3), pp. 113-7.
Publication Year :
2013

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 β-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.

Details

Language :
English
ISSN :
1568-5888
Volume :
21
Issue :
3
Database :
MEDLINE
Journal :
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
Publication Type :
Academic Journal
Accession number :
21604106
Full Text :
https://doi.org/10.1007/s12471-011-0141-1