Table 1.
Syndrome | Cardiac Anomalies | % with CHD | Other Clinical Features |
---|---|---|---|
Trisomy 13 | ASD, VSD, PDA, HLHS | 80% | Microcephaly, holoprosencephaly, scalp defects, severe mental retardation, polydactyly, cleft lip or palate, genitourinary abnormalities, omphalocele, microphthalmia |
Trisomy 18 | ASD, VSD, PDA, TOF, DORV, CoA, BAV | 90-100% | Polyhydramnios, rocker-bottom feet, hypertonia, biliary atresia, severe mental retardation, diaphragmatic hernia, omphalocele |
Trisomy 21 (Down syndrome) | ASD, VSD, AVSD, TOF | 40-50% | Hypotonia, developmental delay, palmar crease, epicanthal folds |
Monosomy X (Turner Syndrome) | CoA, BAV, AS, HLHS | 25-35% | Short stature, shield chest with widely spaced nipples, webbed neck, lymphedema, primary amenorrhea |
47, XXY (Klinefelter Syndrome) | PDA, ASD, mitral valve prolapse | 50% | Tall stature, hypoplastic testes, delayed puberty, variable developmental delay |
22q11.2 deletion (DiGeorge Syndrome) | IAA Type B, aortic arch anomalies, truncus arteriosus, TOF | 75% | Thymic and parathyroid hypoplasia, immunodeficiency, low-set ears, hypocalcemia, speech and learning disorders, renal anomalies |
7q11.23 deletion (Williams-Beuren Syndrome) | Supravalvar AS, PPS | 50-85% | Infantile hypercalcemia, elfin facies, social personality, developmental delay, joint contractures, hearing loss |
ASD, atrial septal defect; VSD, ventricular septal defect; PDA, patent ductus arteriosus; HLHS, hypoplastic left heart syndrome; TOF, tetralogy of Fallot; DORV, double outlet right ventricle; CoA, coarctation of aorta; BAV, bicuspid aortic valve; AVSD, atrioventricular septal defect; IAA, interrupted aortic arch; AS, aortic stenosis; PPS, peripheral pulmonic stenosis.