Table 1.
Patient characteristics at time of diagnosis stratified by BMPR2 and other mutations
| Parameter | All patients (n = 325) | No mutation (n = 251) | BMPR2 mutation (n = 50) | Other mutation (n = 24) | Overall p-value# | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mean ± SD or % | n* | Mean ± SD or % | n* | Mean ± SD or % | n* | p-value+ | Mean ± SD or % | n* | p-value+ | ||||||
| Age at diagnosis (years) | 47 | ± 17 | 325 | 48 | ± 18 | 251 | 47 | ± 17 | 50 | 40 | ± 17 | 24 | 0.069 | ||
| Females | 227 | 70% | 325 | 177 | 71% | 251 | 38 | 76% | 50 | 12 | 50% | 24 | 0.066 | ||
| 6 min walking distance (m) | 393 | ± 124 | 249 | 390 | ± 129 | 195 | 412 | ± 96 | 40 | 380 | ± 128 | 15 | 0.529 | ||
| N-terminal pro-brain natriuretic peptide (ng/l) | 1539 | ± 2331 | 225 | 1479 | ± 2428 | 178 | 2062 | ± 1955 | 34 | 996 | ± 1796 | 13 | 0.285 | ||
| Pro-brain natriuretic peptide (pg/ml) | 315 | ± 291 | 19 | 320 | ± 311 | 14 | 235 | 199 | 4 | 11 | - | 1 | 0.602 | ||
| Diagnosis | 325 | 251 | 50 | < 0.001 | 24 | < 0.001 | < 0.001 | ||||||||
| IPAH | 201 | 61.8% | 173 | 68.9% | 20 | 40.0% | 8 | 33.3% | |||||||
| HPAH | 47 | 14.5% | 9 | 3.6% | 29 | 58.0% | 9 | 37.5% | |||||||
| CHD-APAH | 28 | 8.6% | 27 | 10.8% | 0 | – | 1 | 4.2% | |||||||
| CTD-APAH | 23 | 7.1% | 22 | 8.8% | 0 | – | 1 | 4.2% | |||||||
| PVOD | 16 | 4.9% | 12 | 4.8% | 0 | – | 4 | 16.7% | |||||||
| Persistent PH of the newborn | 3 | 0.9% | 3 | 1.2% | 0 | – | 0 | - | |||||||
| Drugs and toxins induced PAH | 3 | 0.9% | 1 | 0.4% | 1 | 2.0% | 1 | 4.2% | |||||||
| Portal hypertension | 2 | 0.6% | 2 | 0.8% | 0 | - | 0 | – | |||||||
| HIV-APAH | 2 | 0.6% | 2 | 0.8% | 0 | - | 0 | - | |||||||
| WHO functional class | 274 | 215 | 42 | 17 | 0.880 | ||||||||||
| WHO functional class I | 3 | 1% | 3 | 1% | 0 | 0% | 0 | 0% | |||||||
| WHO functional class II | 82 | 30% | 67 | 31% | 10 | 24% | 5 | 29% | |||||||
| WHO functional class III | 169 | 62% | 130 | 61% | 29 | 69% | 10 | 59% | |||||||
| WHO functional class IV | 20 | 7% | 15 | 7% | 3 | 7% | 2 | 12% | |||||||
| Current treatment | 281 | 222 | 42 | < 0.001 | 17 | 0.017 | < 0.001 | ||||||||
| Mono-therapy | 71 | 25% | 67 | 30.2% | 1 | 2.4% | 3 | 17.7% | |||||||
| Double combination therapy | 114 | 41% | 94 | 42.3% | 15 | 35.7% | 5 | 29.4% | |||||||
| Triple combination therapy | 80** | 28% | 45 | 20.3% | 26 | 61.9% | 9 | 52.9% | |||||||
| Calcium channel blockers alone | 16 | 6% | 16 | 7.2% | 0 | - | 0 | - | |||||||
| Haemodynamics | |||||||||||||||
| Mean pulmonary artery pressure (mmHg) | 49 | ± 15 | 274 | 47 | ± 15 | 216 | 55 | ± 11 | 42 | 0.011 | 54 | ± 15 | 16 | 0.253 | 0.006 |
| Pulmonary artery wedge pressure (mmHg) | 8.7 | ± 3.8 | 257 | 10.1 | ± 3.8 | 200 | 7.8 | ± 2.9 | 41 | 0.002 | 7.6 | ± 3.4 | 16 | 0.112 | < 0.001 |
| Pulmonary vascular resistance (Wood Units) | 10.8 | ± 6.0 | 249 | 9.9 | ± 5.7 | 195 | 15.5 | ± 5.8 | 38 | < 0.001 | 10.9 | ± 4.7 | 16 | 1.0 | < 0.001 |
| Cardiac output (l/min) | 4.3 | ± 1.7 | 248 | 4.5 | ± 1.7 | 194 | 3.4 | ± 1.1 | 38 | < 0.001 | 4.2 | ± 1.7 | 16 | 1.0 | < 0.001 |
| Cardiac index (l/min/m2) | 2.4 | ± 0.8 | 226 | 2.5 | ± 0.8 | 175 | 1.9 | ± 0.5 | 37 | < 0.001 | 2.4 | ± 0.7 | 14 | 1.0 | < 0.001 |
+Post-hoc t-test comparison with “no mutation” group in case of significant ANOVA
#ANOVA including all groups
*n varies for each parameter, exact numbers are listed in this column
**One patient received imatinib on compassionate use basis in addition to sildenafil, macitentan and treprostinil
APAH associated pulmonary arterial hypertension, CHD congenital heart disease, CTD connective tissue disease, HHT hereditary haemorrhagic telangiectasia, HIV human immunodeficiency virus, HPAH heritable pulmonary arterial hypertension, IPAH idiopathic pulmonary arterial hypertension