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 |
1p36 deletion syndrome | ASD, VSD, PDA, valve abnormalities, CoA, cardiomyopathy |
Single-gene syndromes – Autosomal dominant inheritance pattern |
Alagille syndrome | Peripheral pulmonary artery stenosis, ASD, VSD, TOF, CoA |
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 |
Cutis laxa (autosomal dominant form) | Supravalvular AS, aortic root dilation |
Ehlers-Danlos syndromes (including classical EDS and other types) | Aortic root dilation, AR, MVP |
Emery-Dreifuss muscular dystrophy (autosomal dominant form) | Cardiomyopathy |
Holt-Oram syndrome | ASD, VSD, left-sided lesions, conotruncal defects |
Kabuki syndrome | HLHS, other left-sided obstructive lesions, VSD, TOF, TGA |
Leopard syndrome | PS, ASD, VSD, HCM |
Marfan syndrome | Aortic root dilation, AR, 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 (autosomal recessive form) | Supravalvular AS, aortic root dilation, pulmonary hypertension |
Ellis-van Creveld syndrome | ASD, AVSD |
MPS type IH (Hurler syndrome) | AR, 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 (X-linked form) | Cardiomyopathy |
X-linked heterotaxy | Heterotaxy |
Incontinentia pigmenti | PDA, hypertension |
Single-gene syndromes – Other inheritance patterns |
Friedreich ataxia | Cardiomyopathy |
Genetic variants associated with nonsyndromic congenital heart disease |
ELN | Supravalvar AS |
GATA4 | ASD, VSD, TOF, PS, CoA, TA, Ebstein's anomaly |
NODAL | Heterotaxy |
NOTCH1 | Aortic valve disease, BAV, aortic dilation, CoA, TOF, HLHS |
NKX2-5 | ASD, VSD, TOF, HLHS |
MYH7 | Cardiomyopathy, ASD, VSD, BAV, CoA, Ebstein's anomaly |
TAB2 | Valvular disease, VSD, TOF |