Clinical, functional, haemodynamic and biological data of pulmonary arterial hypertension (PAH) at diagnosis in patients carrying a TBX4 mutation (n=20)
| Characteristic | PAH with TBX4 mutation |
| Age years | 29 (0–76) |
| Gender | |
| Female | 15 |
| Male | 5 |
| PAH | |
| Familial | 4 |
| Sporadic | 16 |
| NYHA functional class (n=16) | |
| I–II | 2 (12.5) |
| III–IV | 14 (87.5) |
| 6-MWD m (n=14) | 388 (224–613) |
| Haemodynamic parameters | |
| mean PAP mmHg | 59.5 (29–87) |
| PAWP mmHg (n=19) | 8 (4–14) |
| CI L·min−1·m−2 (n=18) | 2.71 (1.48–7.60) |
| PVR Wood units (n=18) | 13.6 (6.2–41.8) |
| PVRI, Wood units·m−2 (n=18) | 19.6 (4.7–46.2) |
| TPR Wood units (n=18) | 16.3 (7.5–50.3) |
| Acute vasodilator response (n=17) | 0 |
| PFTs | |
| FEV1 % predicted (n=14) | 85.5 (50–109) |
| FVC % predicted (n=14) | 89.5 (62–124) |
| FEV1/FVC % (n=14) | 75 (58–91) |
| TLC % predicted (n=14) | 93.5 (71–112) |
| DLCO % predicted (n=12) | 57.5 (43–69) |
| Arterial blood gases at ambient room air | |
| PaO2 mmHg (n=8) | 73.3 (61–108) |
| PaCO2 mmHg (n=8) | 35.5 (29.5–41) |
| Increased BNP >50 pg·mL−1 or NT-proBNP >300 pg·mL−1 (n=12) | 9 (75) |
Data are presented as n, n (%), or median (min–max). NYHA: New York Heart Association; 6-MWD: 6-min walk distance; PAP: pulmonary arterial pressure; PAWP: pulmonary arterial wedge pressure; CI: cardiac index; PVR: pulmonary vascular resistance; PVRI: pulmonary vascular resistance index (normalised to body surface area); TPR: total pulmonary resistance; PFT: pulmonary function test; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; TLC: total lung capacity; DLCO: diffusing capacity of the lung for carbon monoxide (corrected for Hb concentration); Hb: haemoglobin; PaO2: arterial oxygen tension; PaCO2: arterial carbon dioxide tension; BNP: brain natriuretic peptide; NT-proBNP: N-terminal pro-brain natriuretic peptide.