Table 1.
Baseline characteristics and treatment in patients with pulmonary arterial hypertension.
| Variable | ACVRL1 mutation carriers (n = 12) | BMPR2 mutation carriers (n = 27) | Mutation non-carriers (n = 67) | All patients (n = 106) | p |
|---|---|---|---|---|---|
| NYHA FC III or IV | 9/12 (75%) | 14/27 (52%) | 28/67 (42%) | 51/106 (48%) | 0.105 |
| Death | 6/12 (50%) | 6/27 (22.2%) | 17/67 (25.4%) | 29/106 (27%) | 0.169 |
| Female gender | 6 (50%) | 17 (63%) | 36 (54%) | 59 (56%) | 0.368 |
| Age at onset (years) | 13.6 ± 11.3 | 16.0 ± 12.9 | 8.8 ± 8.5 | 11.1 ± 10.6 | 0.006 |
| Brain natriuretic peptide (pg/ml) | 743.2 (471.3–1179.9) | 214.0 (117.0–556.0) | 255.0 (56.8–844.5) | 306.0 (92.0–795.0) | 0.017 |
| Systolic PAP (cardiac echocardiography) (mmHg) | 91.3 ± 23.2 | 83.8 ± 16.7 | 81.0 ± 22.0 | 82.9 ± 21.1 | 0.301 |
| Mean pulmonary artery pressure (mm Hg) | 70.2 ± 14.7 (n = 9) | 72.3 ± 18.4 (n = 23) | 63.9 ± 23.7 (n = 44) | 67.2 ± 21.4 (n = 76) | 0.285 |
| Right atrial pressure (mm Hg) | 9.2 ± 4.4 (n = 9) | 9.5 ± 3.4 (n = 23) | 8.0 ± 2.8 (n = 44) | 8.3 ± 3.2 (n = 76) | 0.149 |
| Pulmonary vascular resistance (Wood units) | 19.1 ± 10.2 (n = 9) | 22.5 ± 12.7 (n = 23) | 14.3 ± 8.6 (n = 44) | 17.7 ± 10.9 (n = 76) | 0.016 |
| Pulmonary artery wedge pressure (mm Hg) | 9.9 ± 4.0 (n = 9) | 11.4 ± 2.9 (n = 23) | 11.0 ± 2.9 (n = 44) | 11.1 ± 3.1 (n = 76) | 0.462 |
| Cardiac index (L/min/m2) | 2.9 ± 0.7 (n = 9) | 2.4 ± 0.5 (n = 23) | 3.2 ± 1.0 (n = 44) | 2.8 ± 0.8 (n = 76) | 0.012 |
| Acute vasodilator responder | 0/9 | 0/23 | 14/44 (32%) | 14/76 (18%) | |
| PAH therapy(targeted drug) | |||||
| None, n (%) | 0 | 0 | 4 (6%) | 4 (3.8%) | |
| Monotherapy, n (%) | 3 (25%) | 1 (3.7%) | 33 (49.3%) | 37 (34.9%) | |
| ERAs | 1 | 1 | 15 | 17 | |
| PDE-5is | 2 | 0 | 15 | 17 | |
| Prostanoids | 0 | 0 | 0 | 0 | |
| CCBs | 0 | 0 | 3 | 3 | |
| Combination therapy, n (%) | 9 (75%) | 26 (96.3%) | 30 (44.7%) | 65 (61.3%) | |
| ERAs + PDE-5is | 5 | 18 | 21 | 44 | |
| ERAs + Prostanoids | 0 | 2 | 1 | 3 | |
| PDE-5is + Prostanoids | 1 | 1 | 2 | 4 | |
| CCBs + Prostanoids | 0 | 0 | 2 | 2 | |
| ERAs + PDE-5is + Prostanoids | 3 | 5 | 4 | 12 | |
Note: Data are expressed as number (percentage), as mean ± SD, or as median (interquartile range).
NYHA FC: New York Heart Association Function Class; CCBs: calcium channel blockers; ERAs: endothelin receptor antagonists; PDE-5is: phosphodiesterase-5 inhibitors; PAH: pulmonary arterial hypertension.