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Table 1 Summary of genes involved in cardiac morphogenesis. Mutations of these important genes lead to various phenotypes of CHDs

From: Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways

Candidate geneCHD phenotypeReferences
NKX2.5Tetralogy of Fallot, patent ductus arteriosus, transposition of greater vessels, atrial septal defects with conduction defects, and hypoplastic left heart syndrome[93,94,95]
MEF2CDouble outlet ventricle, ventricular septal defects, and patent ductus arteriosus[98, 99]
GATA4Atrial and ventral septal defects[102, 104]
TBX5Holt-Oram syndrome, ostium secondum defects, tetralogy of Fallot, and ventricular septal defects[109, 110]
ANKRD1Septal defects[113]
NR2F2Double outlet ventricle[112]
HAND2Familial ventral septal defect, pulmonary stenosis, double outlet ventricle, and tetralogy of Fallot[115]
CASZ1Ventral septal defects[114]
MYH6Familial atrial septal defects[89]
MYH7Ebstein anomaly and left ventricular non-compaction[117]