Table 4.
Gene | CVMs in genetic mouse models |
---|---|
TGFB2 | VSD, TAA, BAV |
NKX2-5 | VSD, AVSD, ASD |
GATA4 | ASD, VSD, AVSD |
TBX1 | AVSD, VSD, |
TBX20 | VSD, AVSD, ASD |
BMP4 | VSD, AVSD, ASD |
GATA6 | VSD, AVSD, ASD |
ZIC3 | Heterotaxy, d-TGA, DORV, AVSD, other heterotaxy spectrum heart defects |
JAG1 | PS, ASD, TOF |
GDF1 | DORV, TOF, d-TGA |
TBX5 | ASD, VSD |
Trisomy 21 | ASD, VSD, PDA |
45, X | BAV, HLHS, CoA |
22q11.2 deletion | TOF, VSD, IAA type B |
ASD, atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CoA, coarctation of the aorta; DORV, double outlet right ventricle; d-TGA, d-transposition of the great arteries; HLHS, hypoplastic left heart syndrome; IAA, interrupted aortic arch type A; PDA, patent ductus arteriousus; PS, pulmonic stenosis; TAA, thoracic aortic aneurysm; TOF, tetralogy of Fallot; VSD, ventricular septal defect