Version May 2024
| Syndrome | Cardiovascular anomaly |
| Genetic associations | |
| VATER/VACTERL association | Wide-ranging (including VSD, TOF, TGA, and others) |
| Chromosomal syndromes | |
| Down syndrome (trisomy 21) | AV canal defect, VSD, ASD, TOF, PDA, pulmonary hypertension |
| Edwards syndrome (trisomy 18) | ASD, VSD, PDA, PS, AS, CoA, TOF, HLHS, pulmonary hypertension |
| Patau syndrome (trisomy 13) | ASD, VSD, TOF, PS, AS, CoA, HLHS, DORV, pulmonary hypertension |
| Turner syndrome | Aortic valve abnormalities, CoA, systemic and pulmonary venous abnormalities, VSD, HLHS, ASD, aortic dilation/rupture |
| Chromosomal deletion/microdeletion syndromes | |
| DiGeorge syndrome (22q11 deletion syndrome) | TOF, IAA and other aortic arch anomalies, truncus arteriosus, VSD |
| Williams syndrome | Pulmonary and aortic valve defects, ASD, VSD, coronary ostial stenosis, branch pulmonary artery stenosis, arteriopathy |
| Single-gene syndromes – Autosomal dominant inheritance pattern | |
| Alagille syndrome | Peripheral pulmonary artery stenosis, ASD, VSD, TOF, CoA |
| Albright hereditary osteodystrophy | Cardiomyopathy |
| Cardiofaciocutaneous syndrome | PS, ASD, VSD, HCM |
| CHARGE syndrome | VSD, ASD, TOF, DORV, PDA, PS, pulmonary vein anomalies |
| Costello syndrome | HCM, PS, ASD, VSD, atrial arrhythmias |
| Ehlers-Danlos syndrome (vascular type) | Rupture of large vessels |
| Holt-Oram syndrome | ASD, VSD, left-sided lesions, conotruncal defects, AV block |
| Leopard syndrome | PS, prolonged PR interval, ASD, VSD, HCM |
| Marfan syndrome | Aortic root dilation/aneurysmal dissection, AI, MVP |
| Myhre syndrome | Restrictive cardiomyopathy, various CHD lesions |
| Myotonic dystrophy | Cardiomyopathy |
| Neurofibromatosis | CoA, renal artery stenosis |
| Osler-Weber-Rendu disease | Multiple telangiectasis, pulmonary AVM |
| Treacher Collins syndrome | ASD, VSD, PDA |
| Tuberous sclerosis | Myocardial rhabdomyoma, Wolff-Parkinson-White syndrome |
| Noonan syndrome | PS, ASD, AS, subaortic stenosis, HCM |
| Single-gene syndromes – Autosomal recessive inheritance pattern | |
| Carpenter syndrome | PDA |
| Cutis laxa | Pulmonary hypertension |
| Ellis-van Creveld syndrome | ASD, AVSD |
| Friedreich ataxia | Cardiomyopathy |
| MPS type IH (Hurler syndrome) | AI, MR, premature CAD, cardiomyopathy |
| MPS type IS (Scheie syndrome) | Aortic valve disease |
| MPS type IV (Morquio syndrome) | Aortic valve disease |
| MPS type VI (Maroteaux-Lamy syndrome) | Aortic valve disease |
| Pompe disease (GSD type 2) | Cardiomyopathy |
| Pseudoxanthoma elasticum | Premature CAD, MVP |
| Smith-Lemli-Opitz syndrome | VSD, PDA, HLHS |
| Thrombocytopenia absent radii syndrome | ASD, TOF |
| Single-gene syndromes – X-linked inheritance pattern | |
| MPS II (Hunter syndrome) | Valvular disease, premature CAD, cardiomyopathy |
| Duchenne muscular dystrophy | Cardiomyopathy |
| Emery-Dreifuss muscular dystrophy | Cardiomyopathy |
| X-linked heterotaxy | Heterotaxy |
| Incontinentia pigmenti | PDA, hypertension |
| Genetic mutations associated with nonsyndromic congenital heart disease | |
| NKX2-5 mutation | ASD, VSD, TOF, HLHS |
| GATA4 mutation | ASD, VSD, TOF |
| TAB2 mutation | Valvular disease, VSD, TOF |
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