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Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
Author(s) -
Vermeer Alexa M.C.,
van Engelen Klaartje,
Postma Alex V.,
Baars Marieke J.H.,
Christiaans Imke,
De Haij Simone,
Klaassen Sabine,
Mulder Barbara J.M.,
Keavney Bernard
Publication year - 2013
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31365
Subject(s) - left ventricular noncompaction , myh7 , penetrance , ebstein's anomaly , cardiology , tricuspid valve , medicine , ventricle , restrictive cardiomyopathy , cardiomyopathy , phenotype , genetics , biology , heart failure , gene , gene isoform
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 β‐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. © 2013 Wiley Periodicals, Inc.