In human cases and mouse models, NR2F2 has been crucially implicated in angiogenesis and heart development, and abnormal expression or depletion of NR2F2 leads to AVSD (atrioventricular septal defect) and VSD (ventricular septal defects) [51]. The gene discussed is NR2F2; the disease is familial atrioventricular septal defect.