Aleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, Anniek Corveleyn, Bert Suys, Bernard Paelinck, Johan Saenen, Emeline Van Craenenbroeck, Lut Van Laer, Bart Loeys, Aline Verstraeten
Left ventricular non-compaction (cardiomyopathy) (LVN(C)) is a rare hereditary cardiac condition, resulting from abnormal embryonic myocardial development. While it mostly occurs as an isolated condition, association with other cardiovascular manifestations such as Ebstein anomaly (EA) has been reported. This congenital heart defect is characterized by downward displacement of the tricuspid valve and leads to diminished ventricular size and function. In an autosomal dominant LVN(C) family consisting of five affected individuals, of which two also presented with EA and three with mitral valve insufficiency, we pursued the genetic disease cause using whole exome sequencing (WES)...
January 2018: European Journal of Medical Genetics