Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
Neth Heart J
; 21(3): 113-7, 2013 Mar.
Article
en En
| MEDLINE
| ID: mdl-21604106
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 ß-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.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Neth Heart J
Año:
2013
Tipo del documento:
Article
País de afiliación:
Países Bajos