Furthermore, several mutations in MYH7 have been associated with congenital heart defects (CHDs), including Ebstein’s anomaly [6], bicuspid aortic valve (BAV) [7], and ventricular septal defect (VSD) [8], but thus far always in combination with cardiomyopathy (typically NCCM). The gene discussed is MYH7; the disease is congenital heart disease.