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Table 1 Data of pathogenic copy number variants (PCNVs) in children with congenital heart disease (CHD) and CHD classification

From: Chromosome microarray analysis in the investigation of children with congenital heart disease

CHD Classification Simple CHD Associate CHD Total
No. PCNVs No. tested PR (%) No. PCNVs No. tested PR (%) No. PCNVs No. tested PR (%)
Septal defect 9 37 24.3 1 6 16.8 10 43 23.3
 ASD 5 18 27.8 0 0 0 5 18 27.8
 VSD 4 19 21.1 0 0 0 4 19 21.1
 VSD + ASD 0 0 0 1 6 16.8 1 6 16.8
AVSD 0 1 0 0 2 0 0 3 0
Conotruncal defects 1 3 33.3 1 13 7.8 2 16 12.5
 TOF 1 3 33.3 1 2 50 2 5 40
 D-TGA 0 0 0 0 11 0 0 11 0
LVOTO 2 5 40 3 9 33.3 5 14 35.7
 COA 0 2 0 1 4 25 1 6 16.7
 AS 2 3 66.7 0 1 0 2 4 50
 IAA, A 0 0 0 2 2 100 2 2 100
 COA + AS 0 0 0 0 2 0 0 2 0
RVOTO 3 3 100 2 8 25 5 11 45.5
 PS/PA 3 3 100 2 8 25 5 11 45.5
LVOTO + RVOTO 0 0 0 3 4 75 3 4 75
 AS + PS 0 0 0 3 4 75 3 4 75
Single Ventricle 0 0 0 0 1 0 0 1 0
PDA 4 12 33.3 0 0 0 4 12 33.3
Total 19 62 30.6 10 43 23.2 29 104 27.9
  1. PR positive rate, ASD atrial septal defect, VSD ventricular septal defect, AVSD atrioventricular septal defect, TOF tetralogy of Fallot, D-TGA d-transposition of the great arteries, COA coarctation of the aorta, AS aortic stenosis, IAA interruption arterial arch, PS pulmonary stenosis, PA pulmonary atresia, PDA patent ductus arteriosus, LVOTO Left ventricular outflow tract obstruction, RVOTO Right ventricular outflow tract obstruction