The majority of cases are sporadic, but some are inherited and associated with mutations in specific genes such as NKX2-5 (also associated with atrioventricular conduction defects), GATA4, TBX5 (associated with Holt–Oram syndrome) and MYH6 (implied in septal defects) [54,55]. This evidence concerns the gene NKX2-5 and Abnormal cardiac septum morphology.