Table 2 Pathogenic and likely pathogenic variants (CNVs, aneuploidies and SNVs) identified in different types of CHD based on the Botto classification.

From: Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing

Specific,

detailed groups

Simple (%)

Association (%)

Complex (%)

Total cases(%)

Positive rate of CNVs & aneuploidies (%)

Positive rate of SNVs(%)

Total detection rate of CNVs, aneuploidies and SNVs (%)

Conotruncal

6(5.9)

5(5)

 

11(10.9)

3(27.3)

0(0)

3(27.3)

d-TGA-IVS

1

  

1

0 (0)

0(0)

0(0)

TOF

5

5

 

10

3(30)

0(0)

3(30)

Atrioventricular septal defect

12(11.9)

 

2(2)

14(13.9)

4(28.6)

1(7.1)

5(35.7)

AVSD, complete

1

 

2

3

2(66.7)

0(0)

2(66.7)

TAPVR

10

  

10

2(20.0)

1(10)

3(30)

PAPVR

1

  

1

0(0)

0(0)

0(0)

Left ventricular outflow tract obstruction

1(1)

2(2)

 

3(3)

1(33.3)

0(0)

1(33.3)

IAA, B

1

2

 

3

1(33.3)

0(0)

1(33.3)

Right ventricular outflow tract obstruction

4(4)

  

4(4)

0(0)

0(0)

0(0)

PVS

1

  

1

0(0)

0(0)

0(0)

PA-VSD (not TOF anatomy)

2

  

2

0(0)

0(0)

0(0)

PA-IVS

1

  

1

0(0)

0(0)

0(0)

Septal

39(38.6)

18(17.8)

 

57(56.4)

13(22.8)

5(8.8)

18(31.6)

VSD pm

28

14

 

42

9(21.4)

4(9.5)

13(31)

VSD os

4

2

 

6

1(16.7)

0(0)

1(16.7)

VSD musc

1

  

1

0(0)

0(0)

0(0)

ASD2

4

2

 

6

3(50)

1(16.7)

4(66.7)

ASD nos

2

  

2

0(0)

0(0)

0(0)

Single ventricle/Complex

  

1(1)

1(1)

0(0)

0(0)

0(0)

Single ventricle (SV)

  

1

1

0(0)

0(0)

0(0)

Septal + LVOTO

2(2)

4(4)

1(1)

7(7)

0(0)

1(14.3)

1(14.3)

VSD (noninlet) + COA

2

4

1

7

0(0)

1(14.3)

1(14.3)

Septal + RVOTO

3(3)

1(1)

 

4(4)

0(0)

1(25)

1(25)

ASD + PVS

3

1

 

4

0(0)

1(25)

1(25)

Total

67 (66.3)

30(29.7)

4(4)

101

21(20.8)

8(7.9)

29(28.7)

  1. Significant values are given in bold.
  2. d-TGA-IVS d-transposition of the great arteries with intact ventricular septum, TOF tetralogy of fallot, AVSD, complete complete atrioventricular septal defect TAPVR total anomalous pulmonary venous return, PAPVR partial anomalous pulmonary venous return, IAA, B interruption of aortic arch type B, PVS pulmonary valve stenosis, PA-VSD (not TOF anatomy) pulmonary atresia with ventricular septal defect, not tetralogy of fallot variant, PA-IVS pulmonary atresia with intact ventricular septum, with or without atrial septal defect, VSD pm perimembranous ventricular septal defect, VSD os ventricular septal defect, otherwise specified, VSD musc muscular ventricular septal defect, ASD2 secundum atrial septal defect, ASD nos atrial septal defect, not otherwise specified, but presumed secundum type, VSD (noninlet) + COA coarctation of aorta with noninlet ventricular septal defect, with or without atrial septal defect; ASD + PVS: Pulmonary valve stenosis plus atrial septal defect.
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