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.