AKT1 and familial atrioventricular septal defect: ECD has been associated with mutations in genes involved either in the MAPK and the P13K-AKT signaling pathways, which eventually activate cell proliferation, survival, and angiogenesis; in particular, more than 50% of the ECD patients carry somatic BRAF (V600E) gene mutation in affected tissues, that sometimes can be detected also on DNA from peripheral blood.