Article
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
Circulation. Cardiovascular genetics - 1 Feb 2011
Postma Alex V, van Engelen Klaartje, van de Meerakker Judith, Rahman Thahira, Probst Susanne, Baars Marieke J H, Bauer Ulrike, Pickardt Thomas, Sperling Silke R, Berger Felix, Moorman Antoon F M, Mulder Barbara J M, Thierfelder Ludwig, Keavney Bernard, Goodship Judith, Klaassen Sabine
Abstract excerpt
BACKGROUND: Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.