Table 1.
Diagnosis | Associated Anomaly | Genetic Abnormality by Exome Testing* | Management Approach | Outcome |
---|---|---|---|---|
HLHS (MA/AA) | None | NA | Norwood | Alive and well |
d‐TGA/IVS | Dysmorphic facies | Yes | Arterial switch operation | Alive with developmental delay |
HLHS (MA/AA) | None | No | Norwood | Interstage death |
d‐TGA/VSD | None | NA | Arterial switch operation/VSD closure | Alive and well |
Critical aortic stenosis | None | NA |
‐ Fetal balloon aortic valvuloplasty ‐ Neonatal Ross/Konno |
Alive and well |
HLHS (MA/AA) | None | No | Norwood | Alive and well |
d‐TGA/VSD | None | NA | Arterial switch operation/VSD closure | Alive and well |
Tricuspid atresia, malposed great arteries, interrupted aortic arch | None | NA | Norwood | Alive and well |
HLHS (MA/AA), restricted atrial septum, PAPVC | None | NA | Comfort care | Death before surgery |
Heterotaxy, unbalanced CAVC, pulmonary atresia, infradiaphragmatic TAPVC | None | NA | TAPVC repair, RV‐PA conduit | Alive and well |
d‐TGA/VSD | None | No | Arterial switch operation/VSD closure | Alive and well |
Unbalanced CAVC, aortic arch hypoplasia | None | Yes | Aortic arch repair, PA band | Alive and well |
HLHS (MA/AA) | None | No | Norwood | Alive and well |
HLHS (MA/AA) | None | NA | Norwood | Alive and well |
d‐TGA/IVS | Dysmorphic facies | Yes | Arterial switch operation | Alive and well |
DILV, aortic arch hypoplasia | None | NA | Norwood | Alive and well |
HLHS (MA/AA) | None | No | Norwood | Alive and well |
Heterotaxy, unbalanced CAVC, supracardiac TAPVC | None | NA | TAPVC repair, RV‐PA conduit | Alive and well |
Aortic coarctation | None | No | Coarctation repair | Alive and well |
HLHS (MA/AA) | Dysmorphic facies | Yes | Norwood | Alive and well |
d‐TGA/VSD | None | NA | Arterial switch operation/VSD closure | Alive and well |
Unbalance CAVC, aortic arch hypoplasia | None | Yes | Norwood | Alive and well |
d‐TGA/IVS | None | NA | Arterial switch operation | Alive and well |
DORV, aortic valve and arch hypoplasia/coarctation | None | NA | Aortic arch repair/VSD closure | Alive and well |
AA/MA indicates aortic atresia/mitral atresia; CAVC, common atrioventricular canal; CHD, congenital heart disease; d‐TGA, d‐transposition of the great arteries; DILV, double inlet left ventricle; DORV, double outlet right ventricle; HLHS, hypoplastic left heart syndrome; IVS, intact ventricular septum; PAPVC, partial anomalous pulmonary venous connection; TAPVC, total anomalous pulmonary venous connection; VSD, ventricular septal defect.
A subset of participants underwent genetic testing by whole exome analysis as part of a separate research protocol (all had a normal microarray). Those who did not participate in the exome study are denoted as NA (not applicable).