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Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7

Item Type:Article
Title:Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
Creators Name:Vermeer, A.M. and van Engelen, K. and Postma, A.V. and Baars, M.J. and Christiaans, I. and De Haij, S. and Klaassen, S. and Mulder, B.J. and Keavney, B.
Abstract:Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric {beta}-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance.
Keywords:Ebstein Anomaly, Isolated Noncompaction Of The Left Ventricular Myocardium, Genetics, Cardiomyopathy, Heart Defects, Congenital, MYH7
Source:American Journal of Medical Genetics C
ISSN:1552-4868
Publisher:Wiley-Blackwell (U.S.A.)
Volume:163
Number:3
Page Range:178-184
Date:August 2013
Official Publication:https://doi.org/10.1002/ajmg.c.31365
PubMed:View item in PubMed

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