TABLE V.
Types of Congenital Heart Defects by Genotype
| Defect | Missense/in-frame deletion (53) | Truncating (77) | SMC1A or 3 (16) | No Mutation |
|---|---|---|---|---|
| Combined defects | ||||
| ASD +VSD +AS +PDA +arch hypoplasia | 1 | |||
| BAV +VSD +coarct | 1 | |||
| VSD +PDA +coarct | 1 | |||
| AV canal +ASD +coarct | 1 | |||
| ASD + hypoplastic arch | 1 | |||
| Vascular ring +R aortic arch | 1 | |||
| Epsteins anomaly +aberrant R subclavian | 1 | |||
| PS +PFO | 1 | |||
| PS +ASD | 1 | 1 | 1 | |
| PS +VSD | 1 | |||
| PS +AVSD | 1 | |||
| PS +PDA +coarctation | 1 | |||
| PS + aberrant subclavian | 1 | |||
| PPS +ASD | 1 | |||
| PPS +VSD | 1 | |||
| PPS +PFO (+PDA) | 3 | 1 | ||
| PPS +PS +AVSD +PAPVR | 1 | |||
| PPS +hypoplastic arch | 1 | |||
| PV stenosis +PFO/ASD | 1 | |||
| PV stenosis +PPS | 1 | |||
| Aortic valve abnormality | ||||
| BAV | 1 | |||
| +VSD | 2 | 2 | ||
| BAV +PV stenosis | 1 | |||
| +PS | 1 | 1 | ||
| +coarctation | ||||
| Isolated Septal defects | ||||
| VSD | 4 | 0 | 6 | |
| ASD | 1 | 1 | 4 | |
| AVSD | 1 | 1 | ||
| Other (unspecified) | 0 | 1 | ||
| Isolated Valve defects | ||||
| Pulmonary stenosis | 1 | 1 | ||
| Mitral | 1 | |||
| MR/TR | 1 | |||
| Cyanotic defect | ||||
| TOF | 2 | 3(2DORV) | ||
| Truncus arteriosus | 1 | |||
| TAPVR | 1 | |||
| Outflow obstruction | ||||
| Coarctation | 2 | 1 | 2 | |
| Pulmonary artery (PS/PPS) | 2 | 2 | ||
| Other isolated defects | ||||
| Dextrocardia | 1 | 1 | ||
| LVH | 1 | 1 | ||
| Small RV | 1 | |||
| Tortuous vessel | 1 | |||
| Fatal cardiac defect NOS | 1 | |||
| Minor findings | ||||
| PFO/PDA | 1 | 3 | ||
| PFO | 2 | 3 | 2 | |
| PDA | 3 | 3 | 3 | |
| Isolated murmur | 6 | 13 | 1 | 16 |
| Total prevalence of CHD | 18/53 = 34% | 29/77 = 35% | 5/16 = 31% | 49/173 = 28% |
ASD, atrial septal defect; VSD, ventricular septal defect; AS, aortic stenosis; PDA, patent ductus arteriosus; BAV, bicuspid aortic valve; PV, pulmonic valve; PS pulmonic stenosis; AV, atrioventricular; PFO, patent foramen ovale; AVSD, atrio-ventricular septal defect; MR, mitral regurgitation; TR, tricuspid regurgitation; TOF, tetralogy of Fallot; TAPVR, total anomalous pulmonary venous return; LVH, left ventricular hypertrophy; RV, right ventricle; NOS, not otherwise specified.