Table 1.
Results of the chromosomal testing conducted in 27 patients with CHD as part of their clinical evaluation.
| Patient | Cardiac Phenotype | Extracardiac Phenotype | Chromosomal Abnormality | Genes Encompassed | Associated Condition | Interpretation of Test Results | Parental Testing |
|---|---|---|---|---|---|---|---|
| Cardio-1.A | ASD, VSD | Hypotonia, dysmorphic features, developmental delay | 47, XY, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | No record |
| Cardio-3.A | TGV | Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal anomalies, limb defects | Chromosome 6 deletion * | Unknown | Unknown | Unknown | No record |
| Cardio-4.A | TOF, PA | Thymus hypoplasia, compromised immune system, absent left kidney, idiopathic left club foot, global developmental delay with central hypotonia | 22q11.2 deletion | 40 genes (TBX1 and COMT) | DiGeorge Syndrome | Pathogenic | Mother is normal; father has no records |
| Cardio-6.A | VSA | Congenital nasolacrimal duct obstruction, esotropia, failure to thrive, hypothyroidism, supraventricular tachycardia, thrombocytopenia | 22q11.2 deletion | 40 genes (TBX1 and COMT) | DiGeorge Syndrome | Pathogenic | No records |
| Cardio-9.A | ASD, DORV, PA, Hypoplastic mitral valve and left ventricle | Hypotension, acidosis, bradycardia, severe developmental delay, seizures | 9q34.3 deletion | SNAPC4, PMPCA, INPP5E, SEC16A, NOTCH1 | Adams Oliver Syndrome | Likely Pathogenic | Mother is normal; father is inconclusive |
| Cardio-28.A | TOF | Acute renal failure, fluid overload, skin pigmentation, undescended testicles | Mosaic 47, XY, +14 | Gain of one full copy of chromosome 14 in some somatic cells | Mosaic trisomy 14 | Pathogenic | Parents are normal |
| Cardio-30.A | TOF | Bilateral hydronephrosis, hypotonia, dysmorphic features | 47, XY, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | No records |
| Cardio-32.A | VSD | Dysphagia, gastroesophageal reflux disease, failure to thrive, global developmental delay, hypotonia, central sleep apnea, right ankle contracture, asymmetric leg length | 7q11.23 deletion,10q26.3 deletion, | ELN, LIMK1, BAZ1B, CLIP2, GTF2IRD, NSUN5, CLDN4, EIF4H, LAT2, MLXIPL, TBL2, WBSCR18, WBSCR22, WBSCR27—Not defined for 10q26.3 deletion | William Syndrome and 10q26.3 deletion | Pathogenic | Parents are normal |
| Cardio-33.A | ASD | Polydactyly, dysmorphic features, delayed motor development | 47, XY, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | Parents are normal |
| Cardio-37.A | TOF, PS | Failure to thrive, hypothyroidism | 47, XY +8 22q11.21 deletion | Gain of one full copy of chromosome 8 | DiGeorge syndrome and mosaic trisomy 8 | Pathogenic | No records |
| Cardio-39.A | VSD | Dysmorphic features, hypotonia | 47, XY, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | No records |
| Cardio-44.A | AS, PS | Anal stenosis, dysmorphic features | 7q11.23 deletion | ELN, LIMK1, BAZ1B, CLIP2, GTF2IRD, NSUN5, CLDN4, EIF4H, LAT2, MLXIPL, TBL2, WBSCR18, WBSCR22, WBSCR27 | William Syndrome | Pathogenic | No records |
| Cardio-45.A | HLHS | Depressed nasal bridge, developmental delay | 8p11.21 duplication | Not reported | Not specified | Unknown | Mother is normal |
| Cardio-56.A | ASD, PA, TAPVD, Heterotaxy | Bowel obstruction, osteomyelitis, asplenia | 16p11.2 deletion | SH2B1 gene | Not specified | Likely benign | Mother is normal; father has the same deletion |
| Cardio-60.A | ASD | Laryngomalacia, swallowing dysfunction | 47, XX, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | No records |
| Cardio-62.A | ASD | Hypotonia, dysmorphic features | 47, XY, +21 | Gain of one full copy of chromosome 21 | Down Syndrome | Pathogenic | No records |
ASD: atrial septal defect; DORV: double outlet right ventricle; HLHS: hypoplastic left heart syndrome; PA: pulmonary atresia; PS: pulmonary stenosis; TAPVD: total anomalous pulmonary venous drainage; TGV: transposition of the great arteries; TOF: tetralogy of Fallot; VSD: ventricular septal defect. *: the detailed laboratory report is not available for this patient.