TABLE IV.
Types of Congenital Heart Defects and CdLS Severity
| Defect (# of probands) | Total number (279) | Mild (130) | Moderate (89) | Severe (60) |
|---|---|---|---|---|
| Septal defects | ||||
| VSD | 20 | 8 | 5 | 5 |
| ASD | 19 | 6 | 5 | 3 |
| AVSD | 6 | 1 | 2 | 3 |
| Other (unspecified) | 5 | — | 2 | 2 |
| Overall prevalence | 18% | 12% | 16% | 22% |
| Outflow obstruction | ||||
| Pulmonic valve | 23 | 4 | 8 | 8 |
| Aortic | 11 | 3 | 6 | 1 |
| Mitral | 3 | 1 | 2 | 0 |
| Overall prevalence | 13% | 6% | 18% | 15% |
| Vascular anomalies | ||||
| Coarctation/hypoplastic aorta | 15 | 5 | 5 | 4 |
| PS/PPS | 15 | 4 | 5 | 5 |
| Enlarged aortic root | 1 | 1 | — | — |
| Overall prevalence | 11% | 8% | 11% | 15% |
| Complex defect | ||||
| TOF | 3 | — | 2 | 1 |
| TOF/DORV | 2 | — | — | 2 |
| DORV | 1 | — | — | 1 |
| AV canal defect | 1 | 1 | — | 1 |
| TAPVR | 1 | — | — | 1 |
| Truncus art | — | — | 1 | — |
| Overall prevalence | 5% | 1% | 3% | 10% |
| Dextrocardia | 2 | 1 | — | 1 |
| Fetal persistent | ||||
| PFO | 28 | 8 | 9 | 8 |
| PDA | 27 | 6 | 4 | 11 |
| Innocent murmur | 42 | 23 | 10 | 8 |
VSD, ventricular septal defect; ASD, atrial septal defect; AVSD, atrioventricular septal defect; PS, pulmonic stenosis; PPS, peripheral pulmonic stenosis; TOF, tetralogy of Fallot; DORV, double-outlet right ventricle; AV, atrioventricular; TAPVR, total anomalous pulmonary venous return; PFO, patent foramen ovale; PDA, patent ductus arteriosus.