| BMPR2 mutation carriers | EIF2AK4 biallelic variant carriers | EIF2AK4 heterozygous variant carriers | Patients with no identified variants | p | |
|---|---|---|---|---|---|
| Female (%) | 68 | 44 | 80 | 72 | 0.282 |
| Caucasian (%) | 81 | 22 | 80 | 85 | <0.001 |
| Age (years) | 39.79 ± 12.97 | 30.10 ± 9.26 | 54.43 ± 21.04 | 51.30 ± 16.57 | <0.001 |
| mPAP (mmHg) | 60.71 ± 11.54 | 54.11 ± 16.29 | 48.25 ± 19.57 | 52.65 ± 13.6 | <0.001 |
| CO (L/min) | 3.55 ± 1.15 | 4.39 ± 1.48 | 4.25 ± 2.17 | 4.26 ± 1.47 | <0.001 |
| FEV1 (% pred) | 88.68 ± 15.77 | 92.00 ± 13.83 | 82.98 ± 22.26 | 82.36 ± 17.93 | 0.055 |
| FEV1/FVC | 0.78 ± 0.08 | 0.79 ± 0.07 | 0.78 ± 0.12 | 0.74 ± 0.10 | 0.004 |
| KCO (% pred) | 83.54 ± 16.86 | 33.84 ± 6.48 | 60.99 ± 41.77 | 67.76 ± 22.91 | <0.001 |
Phenotypic characteristics of patients with idiopathic pulmonary arterial hypertension by genotype. Data presented as mean ± sd unless stated. mPAP – mean pulmonary artery pressure; CO – cardiac output; FEV1 – forced expiratory volume 1 second; FVC – forced vital capacity; KCO – transfer coefficient for carbon monoxide.