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. 2025 Dec 5;16:1673539. doi: 10.3389/fgene.2025.1673539

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.

a

This patient underwent both CMA, and WES, but no pathogenic variants or likely pathogenic variants were identified.

b

This patient underwent WES, but no pathogenetic or likely pathogenic variants were identified.