Table 1.
CHD phenotypes in the four study datasets
| Phenotype | CHOP, n (%) | PCGC, n (%) |
|---|---|---|
| Conotruncal heart defects | ||
| Tetralogy of Fallot | 267 (39.9) | 106 (29.9) |
| D-transposition of the great arteries | 128 (19.1) | 70 (19.7) |
| Ventricular septal defect | 136 (20.3) | 45 (12.7) |
| Double outlet right ventricle | 76 (11.3) | 57 (16.1) |
| Isolated aortic arch anomalies | 30 (4.5) | 7 (2.0) |
| Truncus arteriosus | 20 (3.0) | 13 (3.7) |
| Interrupted aortic arch | 13 (1.9) | 9 (2.5) |
| Other | 0 (0.0) | 48 (13.5) |
| Left ventricular outflow tract defects | ||
| Hypoplastic left heart syndrome | 157 (49.5) | 85 (44.3) |
| Coarctation of the aorta | 97 (30.6) | 67 (34.9) |
| Aortic stenosis | 63 (19.9) | 28 (14.6) |
| Other | 0 (0.0) | 12 (6.3) |
CHOP, Children’s Hospital of Philadelphia; PCGC, Pediatric Cardiac Genomics Consortium.