Mutations in the genes GATA4 and NKX2-5, which encode transcription factors crucial for the expression of cardiac natriuretic peptides and cardiac development, have been strongly associated with cardiac defects, including atrial septal defects (ASD), ventricular septal defects (VSD), and double outlet right ventricle (DORV), among others [25]. This evidence concerns the gene NKX2-5 and atrial septal defect.