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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 gene

CHD phenotype

References

NKX2.5

Tetralogy of Fallot, patent ductus arteriosus, transposition of greater vessels, atrial septal defects with conduction defects, and hypoplastic left heart syndrome

[93,94,95]

MEF2C

Double outlet ventricle, ventricular septal defects, and patent ductus arteriosus

[98, 99]

GATA4

Atrial and ventral septal defects

[102, 104]

TBX5

Holt-Oram syndrome, ostium secondum defects, tetralogy of Fallot, and ventricular septal defects

[109, 110]

ANKRD1

Septal defects

[113]

NR2F2

Double outlet ventricle

[112]

HAND2

Familial ventral septal defect, pulmonary stenosis, double outlet ventricle, and tetralogy of Fallot

[115]

CASZ1

Ventral septal defects

[114]

MYH6

Familial atrial septal defects

[89]

MYH7

Ebstein anomaly and left ventricular non-compaction

[117]