Cardiac phenotype in 230 patients with tetralogy of Fallot
| All | No genetic abnormality | del 22q11.2 | 1 TBX1, 2 NKX2.5, 3 JAG1 | Down | Further chromosomal aberrations | Polymorphisms | |
| N (%) | 230 | 182 (79) | 17 (7.4) | 6 (2.6) | 12 (5.2) | 7 (3.0) | 6 (2.6) |
| Situs solitus | 230 (100) | 182 (100) | 17 (100) | 6 (100) | 12 (100) | 7 (100) | 6 (100) |
| LSVC | 22 (10) | 20 (11) | 1 (6) | 0 | 0 | 1 (14) | 0 |
| PAPVC | 5 (2) | 4 (22) | 0 | 0 | 0 | 0 | 0 |
| PFO/ASD II | 185 (80) | 149 (82) | 13 (76) | 5 (83) | 8 (67) | 6 (86) | 4 (66) |
| ASD I | 5 (2) | 2 (1) | 0 | 0 | 3 (25) | 0 | 0 |
| Sinus venosus ASD | 1 (0.4) | 1 | 0 | 0 | 0 | 0 | 0 |
| Malalignment VSD | 226(98) | 182 (88) | 17 (100) | 6 (100) | 9 (75) | 7 (100) | 5 (83) |
| AVSD | 4 (2) | 0 | 0 | 0 | 3 (25) | 0 | 1 (17) |
| Additional VSDs | 20 (9) | 16 (9) | 0 | 1 TBX1 (17) | 1 (8) | 2 (29) | 0 |
| Infundibulum | |||||||
| Short | 111 (48) | 90 (49) | 6 (35) | 1 JAG1) (17) | 4 (33) | 4 (57) | 6 (100) |
| Elongated | 71 (31) | 57 (31) | 5 (29) | 2 NKX2.5 (33) | 5 (42) | 2 (29) | 0 |
| ToF-type | 32 (14) | 27 (15) | 2 (12) | 3 (1 TBX1, 2 JAG1) (50) | 0 | 0 | 0 |
| Unknown | 19 (8) | 10 (5) | 4 (24) | 0 | 3 (25) | 1 (14) | 1 (17) |
| Pulmonary stenosis | |||||||
| Predominantly valvular | 21 (9) | 16 (9) | 2 (12) | 1 JAG1 (17) | 1 (8) | 0 | 1 (17) |
| Predominantly infundibular | 11 (5) | 11 (6) | 0 | 0 | 0 | 0 | 0 |
| Combined | 182 (79) | 144 (79) | 12 (71) | 5 (83) | 10 (83) | 6 (86) | 4 (67) |
| Unknown | 10 (4) | 7 (4) | 2 (12) | 0 | 0 | 1 (14) | 0 |
| Juxtaductal coarctation/PA hypoplasia | 34 (15) | 20 (11) | 8 (47) | 2 (JAG1) (33) | 0 | 3 (43) | 1 (17) |
| Peripheral PA stenosis | 14 (6) | 9 (5) | 2 (12) | 2 (2 JAG1) (33) | 0 | 0 | 1 (17) |
| MAPCA | |||||||
| Yes | 12 (5) | 9 (5) | 2 (12) | 0 | 0 | 0 | 1 (17) |
| No | 216 (94) | 173 (95) | 15 (88) | 6 (100) | 12 (100) | 7 (100) | 5 (83) |
| Unknown | 2 (1) | 2 (1) | 0 | 0 | 0 | 0 | 0 |
| PDA | |||||||
| Yes | 47 (20) | 36 (LAA17, RAA 18) (20) | 3 (LAA 1, RAA 2) (18) | 0 | 2 (LAA/RAA) (17) | 5 (71) (4 LAA) | 1 (17) (LAA) |
| No | 21 (9) | 15 (8) | 2 (11) | 1 (17) | 2 (17) | 0 | 1 (17) |
| Unknown | 165 (72) | 133 (58) | 12 (71) | 5 (83) | 9 (75) | 2 (29) | 4 (67) |
| Additional cardiac defects | |||||||
| Absent PV | 10 (4) | 7 (4) | 1 (6) | 1 (TBX1) (17) | 0 | 0 | 1 (17) |
| Origin of the aorta >50% from right ventricle | 14 (6) | 9 (5) | 2 (11) | 1 (NKX2.5) (17) | 0 | 2 (29) | 0 |
| Coronary arteries | |||||||
| Normal | 203 (88) | 158 (87) | 16 (94) | 6 (100) | 12 (100) | 5 (71) | 6 (199) |
| Single | 5 (2) | 5 (3) | 0 | 0 | 0 | 0 | 0 |
| Accessory | 13 (6) | 12 (7) | 1 (6) | 0 | 0 | 0 | 0 |
| LAD from RCA | 9 (4) | 7 (4) | 0 | 0 | 0 | 2 (29) | 0 |
| Unknown | 3 (1) | 0 | 0 | 0 | 0 | 0 | 0 |
| Long asc. aorta | 15 (7) | 12 (7) | 2 (12) | 0 | 1 (8) | 0 | 0 |
| Aortic arch | |||||||
| Left | 159 (69) | 126 (68) | 9 (53) | 5 (83) | 10 (83) | 5 (71) | 5 (83) |
| Right | 71 (31) | 58 (32) | 8 (47) | 1 (JAG1) (17) | 1 (8) | 2 (29) | 1 (17) |
| Subclavian artery anomalies | 31 (13) | 17 (LAA 6, RAA 11) (9) | 9 (LAA 3, RAA 6) (53) | 1 (NKX2.5, LAA 1) (17) | 1 (LAA) (8) | 2 (29) (2 LAA) | 1 (17) LAA |
| Aberrant | 24 (10) | 12 (7) | 6 (35) | 2 (33) | 1 (8) | 2 (17) | 1 (17) |
| Isolation | 7 (all RAA) (3) | 5 (3) | 2 (12) | 0 | 0 | 0 | 0 |
| Distal ductal origin | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| CORSA | 1 | 0 | 1 (6) | 0 | 0 | 0 | 0 |
ASD, atrial septal defect; AVSD, atrioventricular septal defect; CORSA, cervical origin of the right subclavian artery; DORV, double outlet right ventricle; LAA, left aortic arch; LAD, left anterior descending coronary artery; LSVC, left superior vena cava; MAPCA, major aortopulmonary collateral arteries; PA, pulmonary artery; PAPVC, partial anomalous pulmonary venous connection; PDA, patent ductus arteriosus; PFO, persistent foramen ovale; RAA, right aortic arch; RCA, right coronary artery; SAA, subclavian artery anomaly; VSD, ventricular septal defect.