TY - JOUR
T1 - Ebstein anomaly associated with left ventricular noncompaction
T2 - An autosomal dominant condition that can be caused by mutations in MYH7
AU - Vermeer, Alexa M.C.
AU - van Engelen, Klaartje
AU - Postma, Alex V.
AU - Baars, Marieke J.H.
AU - Christiaans, Imke
AU - De Haij, Simone
AU - Klaassen, Sabine
AU - Mulder, Barbara J.M.
AU - Keavney, Bernard
N1 - Copyright: Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2013/8
Y1 - 2013/8
N2 - 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.
AB - 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.
KW - Cardiomyopathy
KW - Ebstein anomaly
KW - Genetics
KW - Heart defects, congenital
KW - Isolated noncompaction of the left ventricular myocardium
KW - MYH7
UR - http://www.scopus.com/inward/record.url?scp=84880700979&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/ajmg.c.31365
DO - https://doi.org/10.1002/ajmg.c.31365
M3 - Article
C2 - 23794396
SN - 1552-4868
VL - 163
SP - 178
EP - 184
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 3
ER -