TABLE 1.
Clinical features of patients with complex CHD and heterotaxy.
| Case | Sex | Age | Cardiovascular malformations | Other malformations |
|---|---|---|---|---|
| 1809 | M | 7y2m | L/TGA | / |
| 2247 a | F | 2y10m | Dextrocardia, single ventricle, pulmonary atresia | / |
| 2582 b | M | 1y2m | Atrial situs ambiguity, single atrium, single ventricle, pulmonary atresia | / |
| 2765 | F | 4y2m | Dextrocardia, single atrium, single ventricle, DORV, ASD, pulmonary stenosis | / |
| 2962 | F | 0d | SI, VSD | / |
| 3083 | F | 7m2d | Isolated levocardia, DORV, VSD, aorta anterior/IVC right of spine | / |
| 3120 | F | 9y3m | Dextrocardia, functional single ventricle (tricuspid atresia), TGA, ASD, pulmonary stenosis | Shortened and partially absent right fourth rib |
| 3167 | M | 6d | Dextrocardia, TGA, PDA, ASD, SI | Polydactyly, right accessory auricle, spine malformation |
| 3718 | M | 4d | Isolated levocardia, TGA, VSD, ASD, pulmonary stenosis, right superior vena cava draining into the left atrium | / |
| 3861 | M | 6y3m | TOF, left atrial isomerism | Pulmonary isomerism |
| 3924 | M | 5y2m | Right atrial isomerism, single ventricle, AVSD, DORV, TGA, TAPVC, pulmonary stenosis, anomalous pulmonary venous drainage, right-side aortic arch | Asplenia |
| 4066 | F | 3y2m | Isolated levocardia, DORV, VSD, ASD, pulmonary stenosis | / |
ASD, atrial septa defect; AVSD, atrioventricular septal defect; DORV, double outlet right ventricle; IVC, inferior vena cava; L/TGA, L-transposition of the great arteries; PDA, patent ductus arteriosus; SI, situs inversus; TAPVC, total anomalous pulmonary venous connection; VSD, ventricular septal defect.
This patient underwent both CMA, and WES, but no pathogenic variants or likely pathogenic variants were identified.
This patient underwent WES, but no pathogenetic or likely pathogenic variants were identified.