Cited 16 times since 2013 (1.4 per year) source: EuropePMC Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, Volume 21, Issue 3, 1 1 2013, Pages 113-117 Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. van Engelen K, Postma AV, van de Meerakker JB, Roos-Hesselink JW, Helderman-van den Enden AT, Vliegen HW, Rahman T, Baars MJ, Sels JW, Bauer U, Pickardt T, Sperling SR, Moorman AF, Keavney B, Goodship J, Klaassen S, Mulder BJ
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 β-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.
