Table 2.
Distribution of 79 (likely) pathogenic variants in 74 PAH patients
| IPAH (n = 201) | HPAH (n = 47) |
CHD-APAH (n = 28) | CTD-APAH (n = 23) | Drugs and toxins induced PAH (n = 3) | PVOD (n = 16) |
|
|---|---|---|---|---|---|---|
| BMPR2 | 20 | 30 | – | – | 1 | – |
| ACVRL1 | – | 3 | – | – | – | – |
| AQP1 | – | 1 | – | – | – | – |
| ATP13A3 | – | – | – | – | 1 | – |
| EIF2AK4 | – | – | – | 2 | – | 6 |
| ENG | 1 | – | – | – | – | – |
| GDF2 | 1 | 1 | – | – | – | – |
| KCNK3 | 1 | 2 | – | – | – | – |
| SMAD9 | – | 1 | – | – | – | – |
| SOX17 | 2 | 1 | 1 | – | – | – |
| TBX4 | 4 | – | – | – | – | – |
| Total | 29 in 27 patients | 39 in 39 patients | 1 in 1 patient | 2 in 1 patient | 2 in 2 patients | 6 in 4 patients |
APAH associated pulmonary arterial hypertension, CHD congenital heart disease, CTD connective tissue disease, HHT hereditary haemorrhagic telangiectasia, HPAH heritable pulmonary arterial hypertension, IPAH idiopathic pulmonary arterial hypertension, PVOD pulmonary veno-occlusive disease