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Table 1 PAH-CHD patient population

From: Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

 

Pediatric

Adult

Male, n (%)

53 (36.8)

24 (21.4)

Female, n (%)

91 (63.2)

88 (78.6)

Total, n (%)

144 (56.3)

112 (43.7)

Female-to-male ratio

1.7:1

3.7:1a

Ancestry, n (%)

 East Asian

7 (4.9)

7 (6.3)

 Hispanic

30 (20.8)

27 (24.1)

 African

13 (9)

6 (5.4)

 South Asian

10 (6.9)

7 (6.3)

 European

81 (56.3)

63 (56.3)

 Unknown

3 (2.1)

2 (1.8)

Primary cardiac defect, %

 Atrial septal defect (ASD)

33.8

55.7

 Ventricular septal defect (VSD)

22.5

17.7

 ASD + VSD

13.8

7.6

 Atrioventricular canal defect

7.5

6.3

 Tetralogy of Fallot

5.6

1.3

 Transposition of the great vessels

3.8

3.8

 Hypoplastic left heart syndrome

1.3

0

 Coarctation of the artery

0.6

0

 Other/complex

11.3

7.6

  1. aFisher’s exact test, p = 0.009, indicating a higher female-to-male ratio in adult-onset cases compared to pediatric-onset cases