Table 1.
Sociodemographic and clinical characteristics of patients eligible for genetic testing at diagnosis.
| All Patients N = 126 |
No LP/P Variant N = 94 |
LP/P Variant N = 32 |
||
|---|---|---|---|---|
| Characteristic | N (%) | N (%) a | N (%) a | p Value |
| Sex | ||||
| Female | 89 (71) | 66 (70) | 23 (72) | 0.922 |
| Male | 37 (29) | 28 (30) | 9 (28) | |
| Age at diagnosis, years | 49 ± 16 | 52 ± 17 | 37 ± 13 | 0.001 |
| Clinical diagnosis b | ||||
| IPAH | 114 (90) | 84 (89) | 30 (94) | 0.031 |
| PVOD | 12 (10) | 10 (11) | 2 (6) | |
| NYHA functional class | ||||
| NYHA I-II | 36 (29) | 25 (29) | 11 (34) | 0.587 |
| NYHA III-IV | 78 (62) | 60 (71) | 18 (56) | |
| BMI, kg/m2 | 26.9 ± 5.2 | 27.0 ± 5.3 | 26.6 ± 5.0 | 0.757 |
| Hemodynamics | ||||
| mPAP, mmHg | 52 ± 17 | 50 ± 17 | 59 ± 14 | 0.008 |
| PVR, WU | 9.9 (5.7–12.7) | 8.8 (4.8–12.2) | 11.9 (9.2–15.2) | 0.022 |
| mRAP, mmHg | 9 (6–11) | 9 (6–11) | 8 (6–11) | 0.214 |
| PCWP, mmHg | 10 ± 3 | 10 ± 3 | 9 ± 3 | 0.039 |
| CI, L/min/m2 | 2.5 ± 0.8 | 2.6 ± 0.8 | 2.2 ± 0.6 | 0.061 |
| RVEDVI, mL/m2 | 84 ± 27 | 82 ± 27 | 90 ± 27 | 0.243 |
| RVESVI, mL/m2 | 53 ± 26 | 50 ± 25 | 64 ± 28 | 0.038 |
| RV EF, % | 38 ± 13 | 41 ± 12 | 30 ± 12 | <0.001 |
| Family history | ||||
| No | 68 (54) | 55 (59) | 13 (41) | 0.025 |
| Yes | 17 (13) | 8 (9) | 9 (28) | |
| Unclear | 31 (25) | 22 (23) | 9 (28) | |
| Unknown | 10 (8) | 9 (10) | 1 (3) | |
| Death | 17 (14) | 11 (12) | 6 (20) | 0.324 |
| Lung transplant | 4 (3) | 4 (4) | 0 (0) | NA c |
| Median FU, years | 3 (0–7) | 2 (0–5) | 6 (2–11) | 0.001 |
Data are given as mean (SD), median (range) or number (percentage). IPAH = Idiopathic pulmonary arterial hypertension; PVOD = pulmonary veno-occlusive disease; NYHA = New York Association functional class; BMI = body mass index; mPAP = mean pulmonary arterial pressure; PVR = pulmonary vascular resistance; mRAP = mean right atrial pressure; RVEF = right ventricular ejection fraction; RDEVI = right ventricular end-diastolic volume index; RVESVI = right ventricular end-systolic volume index. a Not all numbers add up to the total number of patients due to missing values. b Concerns p value of chi-square test performed on difference ‘idiopathic PAH’ versus ‘PVOD’, due to >20% of cells having an expected count less than 5. c Significance testing not possible due to small numbers.