Gene | Inheritance | Cardiac anatomy | Species | Reference |
iv | AR | DORV (12%) | Mouse | 72 |
CAVC (24%) | ||||
Common atrium (17%) | ||||
Sinus venosus (9%) | ||||
Platelet-derived growth factor receptor alpha subunit | AR | DORV | Mouse | 86 |
TA | ||||
Facial cleft | ||||
RXR alpha | AR | DORV (17%) | Mouse | 82 |
Hypo compact zone (94%) | ||||
VSD (94%) | ||||
RXR alpha/RAR alpha 1 [RXR∝α−/−, RARα−/+] double mutant embryo | Multigene | DORV | Mouse | 83 |
Non-muscle myosin II-B | AR | DORV | Mouse | 85 |
VSD | ||||
TGFβ2 | AR | DORV (19%) | Mouse | 190 |
VSD (94%) | ||||
DILV (25%) | ||||
TGFβ2 | AR | DORV (78%) | Mouse | 66 |
VSD (38%) | ||||
TV/MV abnormal (33%) | ||||
Overriding TV (25%) | ||||
AoA hypo (21%) | ||||
ECE-1/ECE-2 [ECE-1 −/−; ECE-2 −/−, ECE-1 −/−; ECE-2 +/+] double mutant embryo | Multigene | DORV (42%) | Mouse | 84 |
VSD (100%) | ||||
Overriding aorta (29%) | ||||
AV valve displaced (33%) | ||||
Aorticopulmonary septation defects (42%) | ||||
Great vessel malalignment (33%) | ||||
Noggin | Transgenic | DORV (50%) | Chick | 67 |
Truncus arteriosus (27%) | ||||
Splotch (Pax3) | AR | DORV (6–8%) | Mouse | 78 |
Truncus arteriosus (50–53%) | ||||
Splotch (Pax3) | AR | DORV (58%) | Mouse | 70 |
Truncus arteriosus (42%) | ||||
Folbp1 (Pax3) | AR | DORV (10%) | Mouse | 79 |
Truncus arteriosus | ||||
VSD | ||||
Cited2 (Tfap2 co-activator) | AR | DORV | Mouse | 91 |
Pitx2δc | AR | DORV (28%) | Mouse | 70 |
TGA/TGA and PS (65%) | ||||
Truncus arteriosus (7%) | ||||
Pitx2δc | AR | DORV (100%) | Mouse | 75 |
Pitx2δabc | AR | DORV (majority) | Mouse | 74 |
CAVC | ||||
Pitx2 | AR | DORV | Mouse | 73, 76 |
Pitx2 (iv/iv) | AR | DORV (35%) | Mouse | 71 |
TBX1/Pitx2 | Multigene | DORV (17%) | Mouse | 77 |
ASD (50%) | ||||
Valve defects (50%) | ||||
Pulmonary trunk and vein malformations (50%) | ||||
VSD (25%) | ||||
Others (50%) | ||||
Lp/Lp | AR | DORV (100%) | Mouse | 80 |
Double AoA (66%) | ||||
Right AoA (33%) | ||||
Cx40 (−/−) | AR | DORV (17%) | Mouse | 87 |
Endocardial cushion defects (17%) | ||||
AP-2alpha (AP-2α −/−) | AR | DORV (87%) | Mouse | 88 |
Truncus arteriosus (13%) | ||||
Gata4 (Gata4 ki/ki) transgenic | AR | DORV (100%) | Mouse | 89 |
Gata4 (H/H) | AR | DORV | Mouse | 90 |
CAVC | ||||
Ventricular myocardium hypo | ||||
ES(#21)-11 | Chimeric chromosome 21 | DORV (29%) | Mouse | 191 |
Trap∝α/Ssr1 | AR | DORV | Mouse | 92 |
Ptdsr | AR | DORV | Mouse | 93 |
VSD | ||||
PA: hypo | ||||
Thymus: hypo | ||||
AP-2alpha | AR | DORV (majority) | Mouse | 88 |
Sox11 | AR | DORV | Mouse | 94 |
VSD | ||||
Spectrum of outflow tract malformations | ||||
Sox4/NF-Atc | Multigene | DORV | Mouse | 95 |
Truncus arteriosus | ||||
TOF | ||||
Presenilin 1 (PS1) | AR | DORV | Mouse | 96 |
VSD | ||||
PS | ||||
Fgf12-IIIb | AR | DORV (minority) | Mouse | 97 |
Vang-like 2 (Wnt signalling pathway) | AR | DORV (remodelling of cardiac outflow tract) | Mouse | 81 |
Dishevelled 2 (Dvl2) (Wnt signalling pathway) | AR | DORV (38%) | Mouse | 68 |
TGA | ||||
Truncus arteriosus | ||||
Ara9 | AR | DORV (57%) | Mouse | 192 |
AoA, aortic arch; AR, autosomal recessive; AV, atrioventricular; ASD, atrial septal defect; CAVC, complete atrioventricular canal; DILV, double inlet left ventricle; DORV, double outlet right ventricle; MV, mitral valve; PA, pulmonary atresia; PS, pulmonary stenosis; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; TV, tricuspid valve; VSD, ventricular septal defect.