TABLE 1.
Phenotype distribution for both cohorts
| Count (%) |
||||
|---|---|---|---|---|
| Cardiac Lesion* | Cohort 1 | Cohort 2 | ||
| Tetralogy of Fallot | 249 (39.7) | 118 (34.1) | ||
| Pulmonary Stenosis | 195 (78.3) | 79 (66.9) | ||
| Pulmonary Atresia | 41 (16.5) | 27 (22.9) | ||
| Absent Pulmonary Valve | 6 (2.4) | 1 (0.8) | ||
| Unspecified Pulmonary Anatomy | 7 (2.8) | 11 (9.3) | ||
| Ventricular Septal Defect† | 120 (19.1) | 93 (26.9) | ||
| Conoventricular | 101 (84.2) | 72 (77.4) | ||
| Conal Septal Hypoplasia | 5 (4.2) | 4 (4.3) | ||
| Malalignment | 14 (11.7) | 15 (16.1) | ||
| Unspecified Type | 0 | 2 (2.2) | ||
| D-Transposition of the Great Arteries | 124 (19.8) | 68 (19.6) | ||
| With Ventricular Septal Defect | 61 (49.2) | 30 (44.1) | ||
| Without Ventricular Septal Defect | 60 (48.4) | 33 (48.5) | ||
| Unspecified if Ventricular Septal Defect Present | 3 (2.4) | 5 (7.4) | ||
| Transposition of the Great Arteries - other/unknown∼ | 6 (1) | 4 (1.2) | ||
| Double Outlet Right Ventricle^ | 68 (10.8) | 19 (5.5) | ||
| Pulmonary Stenosis/Atresia | 28 (41.2) | 8 (42.1) | ||
| Aortic Stenosis/Atresia | 9 (13.2) | 1 (5.3) | ||
| Tricuspid Stenosis/Atresia | 8 (11.8) | 2 (10.5) | ||
| Mitral Stenosis/Atresia | 26 (38.2) | 5 (26.3) | ||
| Common Atrioventricular Valve | 6 (8.8) | 5 (26.3) | ||
| Single Ventricle (Double Inlet Right or Left Ventricle) | 1 (1.5) | 1 (5.3) | ||
| Isolated Aortic Arch Anomaly | 29 (4.7) | 18 (5.2) | ||
| Left Aortic Arch with Aberrant Right Subclavian Artery | 1 (3.4) | 4 (22.2) | ||
| Right Aortic Arch with Mirror Image Branching | 3 (10.3) | 2 (11.1) | ||
| Right Aortic Arch with Aberrant Left Subclavian Artery | 9 (31.0) | 7 (38.9) | ||
| Double Aortic Arch | 16 (55.2) | 5 (27.8) | ||
| Truncus Arteriosus | 18 (2.9) | 16 (4.6) | ||
| Type 1 | 8 (44.4) | 11 (68.8) | ||
| Type 2 | 6 (33.3) | 4 (25.0) | ||
| Type 3 | 1 (5.6) | 0 | ||
| Type 4 | 1 (5.6) | 0 | ||
| Type Unspecified | 2 (11.1) | 1 (6.3) | ||
| Interrupted Aortic Arch | 12 (1.9) | 8 (2.3) | ||
| Type A | 3 (25.0) | 1 (12.5) | ||
| Type B | 8 (66.7) | 7 (87.5) | ||
| Type Unspecified | 1 (8.3) | 0 | ||
| Other # | 1 (0.1) | 2 (0.6) | ||
| Total | 627 (100) | 346 (100) | ||
*
2.7% and 3.2% of the subjects were also diagnosed with heterotaxy in Cohort1 and Cohort 2, respectively.
†
17.5% and 14% of the subjects were also diagnosed with coarctation of the aorta in Cohort 1 and Cohort 2, respectively; and 9.2% and 6.5% had concurrent muscular VSDs in Cohort 1 and Cohort 2, respectively.
∼
Cardiac segments SDL or unknown
^
Subsets are not mutually exclusive.
#
Single subjects with atrial septal defect and muscular VSD, muscular VSD, right ventricle aorta and pulmonary atresia.