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Selected genetic disorders associated with congenital heart disease and other heritable cardiovascular malformations

Selected genetic disorders associated with congenital heart disease and other heritable cardiovascular malformations
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
This table summarizes genetic syndromes and gene variants that can be associated with congenital heart disease and heritable cardiovascular abnormalities. This list is not exhaustive. Refer to separate UpToDate topics on congenital heart disease and the individual syndromes for additional details.
AR: aortic regurgitation; AS: aortic stenosis; AVM: arteriovenous malformation; ASD: atrial septal defect; AV: atrioventricular; AVSD: atrioventricular septal defect; BAV: bicuspid aortic valve; CoA: coarctation of the aorta; CHARGE: Coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality; CHD: congenital heart disease; CAD: coronary artery disease; DORV: double-outlet right ventricle; EDS: Ehlers-Danlos syndrome; GSD: glycogen storage disease; HCM: hypertrophic cardiomyopathy; HLHS: hypoplastic left heart syndrome; IAA: interrupted aortic arch; MR: mitral regurgitation; MVP: mitral valve prolapse; MPS: mucopolysaccharidosis; PDA: patent ductus arteriosus; PS: pulmonic stenosis; TOF: tetralogy of Fallot; TGA: transposition of the great arteries; TA: tricuspid atresia; VATER/VACTERL: vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal & radial anomalies, and limb defects; VSD: ventricular septal defect.
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