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Table 1 Demographic data and mean hemodynamic parameters from the US/UK PAH cohort*

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

 

All

IPAH

APAH**

FPAH

Other***

Total, n (%)

4241

2319 (54.6)

1479 (34.8)

252 (5.9)

191 (4.6)

Sex, n (%)

 F

3187 (75.1)

1721 (74.2)

1156 (78.2)

173 (68.6)

137 (71.7)

 M

1054 (24.9)

598 (25.8)

323 (21.8)

79 (31.3)

54 (28.3)

 F:M ratio

3:1

2.9:1

3.6:1

2.3:1

2.5:1

Age-of-onset, n (%)

 Adult (≥ 18 years)

3780 (89.2)

2126 (91.7)

1256 (85.2)

213 (84.5)

185 (96.9)

 Child (< 18 years)

457 (10.8)

193 (8.3)

219 (14.8)

39 (15.4)

6 (3.1)

 Mean ± SD

45.9 ± 20.0

47.0 ± 19.5

45.2 ± 21.3

36.8 ± 16.8

47.7 ± 15.0

Ancestry, n (%)

     

 EUR

3108 (74.5)

1798 (77.5)

988 (67.0)

166 (86.9)

156 (81.7)

 HISP

359 (8.6)

145 (6.3)

186 (12.6)

13 (6.8)

15 (7.9)

 AFR

365 (8.7)

166 (7.2)

189 (12.8)

2 (1.0)

8 (4.2)

 EAS

104 (2.5)

42 (1.8)

57 (3.9)

1 (0.5)

4 (2.1)

 SAS

116 (2.8)

82 (3.5)

28 (1.9)

4 (2.1)

2 (1.0)

 Other/unknown

123 (2.9)

85 (3.7)

27 (1.8)

5 (2.6)

6 (3.1)

Hemodynamic parameters, mean ± SD (n)

 MPAP, mmHg

51 ± 14 (3594)

53 ± 17 (2045)

48 ± 14 (1235)

58 ± 14 (158)

51 ± 12 (156)

  BMPR2+

59 ± 12 (320)

60 ± 12 (197)

56 ± 16 (11)

58 ± 12 (109)

53 ± 5 (3)

  BMPR2−

50 ± 14 (3394)

52 ± 14 (1928)

48 ± 14 (1257)

57 ± 17 (65)

51 ± 13 (144)

 MPCWP, mmHg

10 ± 4 (3407)

10 ± 24 (1912)

10 ± 4 (1197)

10 ± 4 (151)

11 ± 4 (147)

  BMPR2+

10 ± 4 ()

10 ± 4 ()

10 ± 3 ()

10 ± 4 ()

8 ± 4 ()

  BMPR2−

10 ± 4 ()

10 ± 4 ()

10 ± 4 ()

10 ± 4 ()

11 ± 4 ()

  1. *US/UK PAH cohort: 2572 PAH Biobank; 1134 UK NIHR BioResource; 534 CUIMC
  2. **APAH: PAH associated with connective tissue diseases, congenital heart disease, HHT, HIV
  3. ***Other: diet- and toxin-induced PAH, non-familial pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis and one case of persistent pulmonary hypertension of the newborn
  4. Abbreviations: AFR, African; EAS, East Asian; EUR, European; HISP, Hispanic; SAS, Southeast Asian; MPAP, mean pulmonary artery pressure; MPCWP, mean pulmonary capillary wedge pressure