Skip to main content
. Author manuscript; available in PMC: 2023 Jul 11.
Published in final edited form as: Eur Respir J. 2021 Dec 31;59(1):2003337. doi: 10.1183/13993003.03337-2020

TABLE 4.

Genetic findings reported as the primary World Symposium on Pulmonary Hypertension (WSPH) classification

Group 1: Pulmonary arterial hypertension (PAH)
  1.2 Heritable 40 (100)
   1.2.1 BMPR2 17 (43)
   1.2.2 ALK1/ENG (with or without hereditary haemorrhagic telangiectasia) 5 (13)
   1.2.3 SMAD9 0 (0)
   1.2.4 CAV1 1 (3)
   1.2.5 KCNK3 1 (3)
   1.2.6 Unknown 6 (15)
   1.2.7 Other 10 (25)
    TBX4 6 (15)
    GDF2 mutation 2 (5)
    Other/family history 2 (5)

Data are presented as n (%); all percentages are based WSPH Group 1.2 heritable disease (n=40) as the denominator.