Table 1.

Chromosomal Aneuploidies and Copy Number Variants Associated With CHD

Chromosome Change	Gene	Cardiac Defect	Percent with CHD	Clinical features	References
Chromosomal Aneuploidies
Trisomy 21 (Down syndrome)	Unknown	AVSD, ASD, VSD, PDA, TOF	40–50%	Short stature, cognitive deficits, atlantoaxial instability, immune system dysfunction, hypotonia, hypothyroidism, premature aging	21788214 20624800
Trisomy 18 (Edwards syndrome)	Unknown	ASD, VSD, PDA, TOF, DORV, TGA, CoA, BAV	80–90%	IUGR, polyhydramnios, micrognathia, short sternum, hypertonia, rocker-bottom feet, overlapping fingers and toes, tracheoesophageal fistula, congenital diaphragmatic hernia, omphalocele, renal anomalies, biliary atresia, severe intellectual disability	26347425
Trisomy 13 (Patau syndrome)	Unknown	ASD, VSD, PDA, HLHS, atrial isomerism	57–80%	Cleft lip and palate, scalp defects, hypotelorism, microphthalmia or anophthalmia, colobomata of irides, holoprosencephaly, microcephaly, deafness, severe intellectual disability, rib abnormalities, polydactyly, omphalocele, renal abnormalities, hypospadias, cryptorchidism, uterine abnormalities	26347425 21990216
Monosomy X (Turner syndrome)	Unknown	CoA, BAV, AS, HLHS, Dilated Ao	23–35%	Short stature (partially growth hormone responsive), cognitive deficits, ADHD, lymphedema, widely spaced hypoplastic nipples, webbed neck, primary amenorrhea	28705803 25517026
Copy Number Variants
22q11.2 deletion syndrome (DiGeorge syndrome)	TBX1	Conotruncal defects, IAA-B, TOF, conoventricular VSD	75%	Cleft palate, bifid uvula, velopharyngeal insufficiency, microcephaly, hypocalcemia/hypoparathyroidism, thymic hypoplasia/immune deficit, psychiatric disorder, learning disability	23604262 26742502
1p36 deletion syndrome	Unknown	PDA, VSD, ASD, BAV, Ebstein’s anomaly, LVNC	70%	Growth deficiency, intellectual disability, microcephaly, deep-set eyes, low-set ears, hearing loss, hypotonia, seizures, central nervous system defects, genital anomalies	18245432
Deletion 7q11.23 (Williams-Beuren syndrome)	ELN	SVAS, PS, PPS	80%	Unusual facies, thick lips, strabismus, stellate iris pattern, intellectual disability	20089974 12161592
Deletion 11q (Jacobsen syndrome)	ETS1 FLI1	HLHS, AS, VSD, CoA, Shone’s complex	56%	Growth retardation, developmental delay, thrombocytopenia, platelet dysfunction, widely spaced eyes, strabismus, broad nasal bridge, thin upper lip, prominent forehead, intellectual disability	15266616 26285164

ADHD, attention deficit/hyperactivity disorder; AS, aortic stenosis; ASD, atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CHD, congenital heart disease; CNVs, copy number variants; CoA, coarctation of the aorta; Dilated Ao, dilated ascending aorta; DORV, double-outlet right ventricle; HLHS, hypoplastic left heart syndrome; IAA-B, interruption of aortic arch type B; IUGR, intrauterine growth retardation; LVNC, left ventricular noncompaction cardiomyopathy; PDA, patent ductus arteriosus; PPS, peripheral pulmonary stenosis; PS, pulmonary stenosis; SVAS, supravalvular aortic stenosis; TGA, transposition of great arteries; TOF, tetralogy of Fallot and VSD, ventricular septal defect.