Pediatric emergency medicine trisk 1711 1711
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Alagille syndrome
PPS, TOF éPA, ASD, VSD, coarctation of
aorta
CHARGE syndrome
Cornelia de Lange
DiGeorge syndrome
Deletion 1p36 syndrome
TOF, aortic arch anomalies
VSD, ASD, PS, HCM
Truncus arteriosus, complex TOF
Ebstein anomaly, noncompaction left ventricle,
dilated cardiomyopathy, TOF/PA, PDA
Deletion 4p syndrome (Wolf– Pulmonic stenosis, ASD, VSD
Hirschhorn syndrome)
Trisomy 21 (Down
AVSD, VSD (all types), ASD (secundum type),
syndrome)
PDA, TOF
Holt–Oram syndrome, TBX5 ASD and possible VSD
gene
Noonan syndrome
HCM, PS with dysplastic pulmonary valve,
partial AVSD, coarctation of aorta
Goldenhar syndrome
TOF
Jacobsen syndrome
HLHS, VSD
Marfan syndrome
Aortic root dilation, mitral valve prolapse
Partial trisomy 9
HLHS
Smith–Lemli–Opitz
HLHS, secundum ASD, VSD, AVSD, TAPVR
Tetrasomy 22p (Cat Eye
TAPVR, PAPVR
syndrome)
Trisomy 13
Conotruncal: DORV, TOF, Common AVSD,
ASD, VSD, PDA, polyvalvar dysplasia
Trisomy 18
VSD, TOF, DORV, AVSD, polyvalvar
dysplasia, bicuspid aortic valve
Turner syndrome 45,XO
Coarctation of aorta, bicuspid aortic valve, AS,
mitral valve anomalies, MVP, HLHS
Williams–Beuren syndrome PS, supravalvar AS
Williams syndrome
Supravalvar AS, abnormal origin of coronary
arteries, PS, PPS ASD, VSD
Deletion 7p
CHD, congenital heart disease; PPS, peripheral pulmonary stenosis; TOF, tetralogy of Fallot; PA, pulmonary
atresia; ASD, atrial septal defect; VSD, ventricular septal defect; PDA, patent ductus arteriosus; AVSD,
