TABLE 1.
Baseline characteristics of the study population (n=327)
| Characteristics | |
| Age years | 65±14 |
| Female/male | 100 (31)/227 (69) |
| Body mass index kg·m−2 | 26.9±5.2 |
| Biallelic EIF2AK4 pathogenic variants | 26 (8) |
| NYHA FC | |
| Class II | 49 (15) |
| Class III | 205 (63) |
| Class IV | 73 (22) |
| 6MWD m | 242±160 |
| Haemodynamics | |
| RAP mmHg | 8±5 |
| mPAP mmHg | 45±11 |
| PAWP mmHg | 9±4 |
| Cardiac output L·min−1 | 4.4±1.3 |
| Cardiac index L·min−1·m−2 | 2.4±0.7 |
| PVR WU | 9±4 |
| SvO2 % | 60±9 |
| Heart rate bpm | 78±16 |
| Stroke volume index mL | 33±11 |
| BNP ng·L−1 (n=175) | 273 (78–531) |
| NT-proBNP ng·L−1 (n=152) | 2040 (413–4491) |
| Increased BNP or NT-proBNP | 260 (80) |
| Pulmonary function tests | |
| FEV1 % pred | 88±20 |
| FVC % pred | 95±22 |
| TLC % pred | 93±17 |
| DLCO % pred | 35±13 |
| DLCO/AV % pred | 42±16 |
| Arterial blood gases on ambient room air | |
| PaO2 mmHg | 57±13 |
| PaCO2 mmHg | 32±5 |
| Initial PAH treatment strategy | |
| Monotherapy | 221 (68) |
| Combination therapy | 57 (17) |
| No therapy | 49 (15) |
| Therapy stopped | |
| Endothelin receptor antagonist | 40 (12) |
| Phosphodiesterase 5 inhibitor | 13 (4) |
| Prostacyclin | 3 (1) |
| Last therapy received | |
| Monotherapy | 136 (42) |
| Combination therapy | 134 (41) |
| No therapy | 57 (17) |
Data are presented as mean±sd, median (IQR) or n (%). EIF2AK4: Eukaryotic translation initiation factor 2-α kinase 4; NYHA FC: New York Heart Association functional class; 6MWD: 6-min walk distance; RAP: right atrial pressure; mPAP: mean pulmonary artery pressure; PAWP: pulmonary artery wedge pressure; PVR: pulmonary vascular resistance; SvO2: mixed venous oxygen saturation; BNP: brain natriuretic peptide; NT-proBNP: N-terminal pro-brain natriuretic peptide; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; TLC: total lung capacity; DLCO: diffusing capacity for carbon monoxide; DLCO/AV: diffusing capacity for carbon monoxide to alveolar volume ratio; PaO2: partial pressure of oxygen; PaCO2: partial pressure of carbon dioxide.