Table 3.
Genes associated with non-syndromic congenital heart disease (selected)
| Gene | Cardiovascular malformation | OMIM | References |
|---|---|---|---|
| Transcription factors | |||
| CITED2 | ASD, VSD | 602937 | 16287139 |
| GATA4 | ASD, VSD, AVSD, PS, TOF | 600576 | 12845333 15235040 15810002 15689439 18055909 18076106 |
| GATA5 | ASD, VSD, DORV, TOF, BAV | 611496 | 23031282 24638895 |
| GATA6 | PTA, TOF, ASD, BAV | 601656 | 19666519 20581743 20631719 37700164 |
| HAND1 | AVSD, DORV, HLHS, ASD, VSD | 602406 | 18276607 19586923 |
| HAND2 | TOF, LVNC, VSD | 602407 | 20819618 26865696 |
| MED13L | TGA | 608771 | 14638541 |
| NR2F2 | AVSD, AS, CoA, VSD, HLHS, TOF | 107773 | 24702954 |
| NKX2–5 | ASD, atrioventricular conduction delay, TOF, HLHS, VSD | 600584 | 9651244 10587520 11714651 14607454 |
| NKX2–6 | PTA | 611770 | 15649947 24421281 |
| TBX1 | DORV, TOF, IAA, PTA, VSD | 602054 | 14585638 |
| TBX5 | AVSD, TOF, BAV, CoA, ASD, VSD | 601620 | 22543974 |
| TBX20 | ASD, VSD, MS, DCM | 606061 | 17668378 27510170 |
| ZFPM2/FOG2 | TOF, DORV | 603693 | 14517948 |
| Cell signaling and adhesion proteins | |||
| ACVR1/ALK2 | AVSD | 102576 | 19506109 |
| CRELD1 | ASD, AVSD | 607170 | 12632326 |
| FOXH1 | TOF, TGA, VSD | 603621 | 18538293 |
| GJA1 | HLHS, VSD, PA | 121014 | 11470490 19615768 |
| HEY2 | AVSD | 604674 | 16329098 |
| JAG1 | TOF, PS | 601920 | 9207788 9207787 11152664 |
| NOTCH1 | BAV, AS, HLHS, TOF, PS, ASD, VSD, CoA, DORV | 190198 | 16025100 26820064 |
| PDGFRA2 | TAPVR | 173490 | 20071345 |
| SMAD6 | BAV, CoA, AS | 602931 | 22275001 |
| TAB2 | BAV, AS, TOF | 605101 | 20493459 |
| VEGFA | TOF, PDA, AS, BAV, CoA, IAA, VSD | 192240 | 30232381 20420808 |
| Structural proteins | |||
| ACTC1 | ASD, HCM, DCM, LVNC | 102540 | 17947298 |
| DCHS1 | MVP | 603057 | 26258302 |
| ELN | SVAS | 130160 | 7693128 11175284 |
| MYH6 | ASD, HCM, DCM | 160710 | 15735645 20656787 |
| MYH7 | Ebstein’s anomaly, LVNC, HCM, DCM | 160760 | 18159245 21127202 |
| MYH11 | PDA, TAA | 160745 | 16444274 27418595 |
AS, aortic stenosis; ASD, atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CoA, coarctation of the aorta; DCM, dilated cardiomyopathy; DORV, double-outlet right ventricle; HCM, hypertrophic cardiomyopathy; HLHS, hypoplastic left heart syndrome; IAA, interruption of aortic arch; LVNC, left ventricular noncompaction cardiomyopathy; MS, mitral valve stenosis; MVP, mitral valve prolapse; PA, pulmonary atresia; PDA, patent ductus arteriosus; PS, pulmonary stenosis; PTA, persistent truncus arteriosus; SVAS, supravalvular aortic stenosis; TAA thoracic aortic aneurysm; TAPVR total anomalous pulmonary venous return; TGA, transposition of great arteries; TOF, tetralogy of Fallot; and VSD, ventricular septal defect.