Table 1.
CHD Due to Common Aneuploidy and CNV Mutations
| Mutation | Incidence of CHD | Associated CHD* | Non-cardiac Malformations ** | Comorbidities** | |
|---|---|---|---|---|---|
| Aneuploidy | Trisomy 8 (15) | Insufficient Data | Insufficient Data | FD, CNS, MSK | IUGR, NDD, DLE |
| Trisomy 9 (16) | 61–80% | VSD | FD, MSK, GU, Renal, CNS | IUGR, NDD, Renal, GR, DLE | |
| Trisomy 13 (Patau Syndrome) (17, 18) |
60–80% | ASD, VSD, PDA, TOF | Dysmorphism, MSK, GI, GU, Renal, CNS | IUGR, NDD, CNS, DLE | |
| Trisomy 18 (Edward Syndrome) (17–19) |
60–80% | ASD, VSD, PDA | Dysmorphism, MSK, Renal, GI | IUGR, Feeding issues, apnea, NDD, DLE | |
| Trisomy 21 (Down Syndrome) (20) |
35–50% | Endocardial Defect (Primum ASD, Cleft MV, Inlet VSD, AVSD), VSD, ASD, PDA | Dysmorphism, MSK, GI, GU | IUGR, GR, NDD, HM, EN, Pulm, ID, DLE | |
| Monosomy X (Turner Syndrome) (21) |
33% | Left-sided heart defects (CoA, BAV, AS) | MSK, Renal, GU | IUGR, GR, En, CV, Onc, RH | |
| 4p- (Wolf-Hirschhorn Syndrome) (22) |
30–79% | ASD | FD, CNS, MSK, Renal | GR, NDD, ID | |
| 5p- (Cri du Chat) (23) |
5–29% | VSD, TOF, PA, DORV | Dysmorphism, CNS | NDD, MSK | |
| CNV Mutations | Del22q11 (DiGeorge Syndrome) (24) |
74% | Conotruncal anomalies (TOF, IAA, VSD, Truncus) | CNS, FD, renal | EN, ID, NDD |
| 1q21.1(del and dup) (25–27) |
74% | Left heart obstruction, conotruncal anomalies, ASD, VSD, PS | CNS, FD | CNS, NDD | |
| Del1p36 (28) |
71% | ASD, VSD, Valular anomalies, PDA, TOF, CoA, Cardiomyopathy | CNS, FD, GU, MSK, Renal | NDD | |
| Del3p25.1 (29,30) |
25% | ASD, AVSD, PDA, VSD | FD, GI, MSK, Renal | NDD | |
| Del7q11 (William Syndrome) (31) |
80% | Supravalvar AS, Branch PS, VSD | Arterial stenoses, FD | EN, GD, NDD | |
| Del8p23 (32) |
Insufficient Data | ASD, AVSD, PS | CNS, FD, Diaphragmatic hernia, GU | CNS, NDD | |
| Del11q24-25 (Jacobsen Syndrome) (33) |
56% | VSD, Left sided lesions | FD, GI, MSK, Renal, GU | HM, NDD | |
| Del15q11.2 (34) |
15% | Broad range: VSD, TOF, CoA, APVR, Pulm Atr | CNS, ENT, FD, GI | CNS, NDD | |
| Dup16p13.1 (35) |
40% | ASD, TOF | CNS, FD, MSK, GU | EN, NDD |
Abbreviations: APVR= anomalous pulmonary venous return, ASD= atrial septal defect, AS= aortic stenosis, AVSD= atrioventricular septal defect, BAV= bicuspid aortic valve, CoA= coarctation of the aorta, DORV= Double Outlet Right Ventricle, IAA= Interrupted aortic arch, MV= mitral valve, PA= pulmonary atresia, PDA= patent ductus arteriosus, PS= pulmonary stenosis, TGA= Transposition of the Great Arteries, TOF= tetralogy of fallot, Truncus= Truncus Arteriosus, VSD= ventricular septal defect
Abbreviations: Defined in text with the following additions: CNS= central nervous system, CV= cardiovascular, DLE= decreased life expectancy, EN= endocrine, FD= facial dysmorphism, GI= gastrointestinal, GU= genitourinary, GR= growth restriction, HM= hematologic, IUGR= intrauterine growth restriction, MSK= musculoskeletal, Onc= oncologic, Pulm= pulmonary, RH= rheumatologic, ID= Immunodeficiency