Table 1.
Characteristics of cases with a conotruncal cardiac defect with and without a 22q11.2 deletion
| Characteristic | Without 22q11 deletion (N = 1,423) No. (%) |
With 22q11 deletion (N = 187) No. (%) |
|---|---|---|
| Race/ethnicity | ||
| Non-Hispanic White | 964 (67.7) | 126 (67.4) |
| Non-Hispanic Black | 189 (13.3) | 25 (13.4) |
| Hispanic | 129 (9.1) | 16 (8.5) |
| Other | 141 (9.9) | 20 (10.7) |
| Sex | ||
| Female | 611 (42.9) | 90 (48.1) |
| Male | 812 (57.1) | 97 (51.8) |
| Aortic Arch Anomaly | ||
| No | 1,004 (70.6) | 60 (32.1) |
| Yes | 419 (29.4) | 127 (67.9) |
| Primary Diagnosis* | ||
| Tetralogy of Fallot†(n= 619) | 537 (86.7) | 82 (13.2) |
| Pulmonary stenosis | 392 (89.2) | 47 (10.7) |
| Pulmonary atresia | 107 (78.7) | 29 (21.3) |
| Absent pulmonary valve | 25 (86.2) | 4 (13.8) |
| NOS | 13 (86.7) | 2 (13.3) |
| Truncus arteriosus†(n= 93) | 60 (64.5) | 33 (35.5) |
| Truncus arteriosus – A1 | 28 (58.3) | 20 (41.7) |
| Truncus arteriosus – A2 | 19 (82.6) | 4 (17.4) |
| Truncus arteriosus – A3 | 3 (37.5) | 5 (62.5) |
| Truncus arteriosus – A4 | 9 (75.0) | 3 (25.0) |
| Truncus arteriosus – NOS | 1 (50.0) | 1 (50.0) |
| Interrupted aortic arch – A | 11 (100) | 0 |
| Interrupted aortic arch – B | 35 (43.8) | 45 (56.2) |
| Interrupted aortic arch – NOS | 2 (100) | 0 |
| Ventricular septal defect‡ (n= 361) | 336 (93.1) | 25 (6.9) |
| Double outlet right ventricle | 137 (99.3) | 1 (0.7) |
| D-Transposition of the great arteries | 228 (99.6) | 1 (0.4) |
| L-Transposition of the great arteries | 56 (100) | 0 |
| Transposition of the great arteries, NOS | 21 (100) | 0 |
NOS= not otherwise specified
*
For primary diagnosis, percentages are presented by row
†
All types
‡
Subtypes of ventricular septal defects: conoventricular, posterior malalignment and conoseptal hypoplasia