TABLE 1.
Baseline characteristics of DOLPHIN-GENESIS cohort
| Control | BMPR2 carrier | p-value | |
|---|---|---|---|
| Participants (n) | 21 | 28 | |
| Female | 10 (48) | 16 (57) | 0.710 |
| Age | 44±18 | 44±16 | 0.937 |
| Serum NT-proBNP (ng·L−1), median (IQR) | NA | 19 (10–26) | NA |
| Medical history | |||
| Hypertension | 2 (9.5) | 2 (7.1) | 1.000 |
| Diabetes mellitus | 0 (0.0) | 1 (3.6) | 1.000 |
| Obesity | 1 (4.8) | 2 (7.1) | 1.000 |
| Malignancy | 0 (0.0) | 2 (7.1) | 0.348 |
| Prior VTE | 1 (4.8) | 0 (0.0) | 0.884 |
| CPET | |||
| V′O2max (mL·min−1) | 2355±682 | 2094±595 | 0.159 |
| RERmax | 1.2±0.1 | 1.2±0.1 | 0.426 |
| PETCO2max (kPa) | 4.7±0.4 | 4.5±0.8 | 0.375 |
| PETCO2rest (kPa) | 4.7±0.3 | 4.3±0.4 | <0.001*** |
| V′E/V′CO2rest | 30.0±3.4 | 33.3±5.0 | 0.011* |
| V′E/V′CO2max | 31.0±2.9 | 33.0±6.1 | 0.160 |
| V′E/V′CO2AT | 26.0±3.2 | 27.6±3.4 | 0.092 |
| Max O2 pulse (mL·beat−1) | 13.6±3.7 | 12.9±3.6 | 0.476 |
| Echocardiography | |||
| TRV (m·s−1) | 2.0±0.3 | 2.2±0.2 | 0.590 |
| TI | 6 (28.6) | 6 (22.0) | 0.867 |
| RV hypertrophy | 1 (4.8) | 0 (0.0) | 1.000 |
| Septal bulging | 0 (0.0) | 0 (0.0) | 1.000 |
| PAAT (cm·s−1) | 135.6±29.9 | 132.1±17.7 | 0.643 |
| PASP (mmHg) | 19.8±5.2 | 19.7±5.0 | 0.975 |
| TAPSE (mm) | 22.8±3.1 | 23.5±2.9 | 0.415 |
| RV S’ wave (cm·s−1) | 13.2±2.0 | 12.1±1.7 | 0.041* |
| Cardiac MRI | |||
| Participants (n) | 21 | 26 | |
| RAimin (mL·m−2) | 20.2±7.2 | 15.9±7.0 | 0.051 |
| RAimax (mL·m−2) | 38.1±10.6 | 29.5±10.8 | 0.011* |
| LAimin (mL·m−2) | 12.2±6.1 | 11.1±3.4 | 0.435 |
| LAimax (mL·m−2) | 34.7±11.6 | 29.6±6.2 | 0.063 |
| RVEF (%) | 58.6±4.8 | 57.1±6.2 | 0.366 |
| RVEDVi (mL·m−2) | 79.5±17.6 | 62.7±15.3 | 0.001** |
| RVESVi (mL·m−2) | 34.2±10.5 | 27.1±8.3 | 0.014* |
| RV mass index (g·m−2) | 23.5±4.8 | 20.2±5.0 | 0.031* |
| LVEF (%) | 68.7±7.2 | 68.7±7.2 | 0.976 |
| LVEDVi (mL·m−2) | 68.9±14.1 | 58.5±10.7 | 0.007* |
| LVESVi (mL·m−2) | 22.4±8.2 | 19.1±7.3 | 0.155 |
| LV mass index (g·m−2) | 64.8±10.8 | 57.5±9.5 | 0.020* |
| RV GCS (%) | −12.8±2.4 | −15.9±2.6 | <0.001*** |
| LV GCS (%) | −18.8±2.4 | −19.6±2.1 | 0.206 |
| RHC | |||
| Participants (n) | 22 | ||
| Heart rate (bpm) | NA | 72.7±12.1 | NA |
| mPAP (mmHg) | NA | 16.5±2.3 | NA |
| mRAP (mmHg) | NA | 5.7±2.1 | NA |
| Cardiac output (L·min−1) | NA | 5.7±1.2 | NA |
| Cardiac index (L·min−1·m−2) | NA | 3.1±0.6 | NA |
| PVR (WU) | NA | 1.1±0.5 | NA |
| PCWP (mmHg) | NA | 10.4±3.1 | NA |
Data are presented as mean±sd or n (%), unless otherwise indicated. AT: anaerobic threshold; EDVi: indexed end-diastolic volume; EF: ejection fraction; ESVi: indexed end-systolic volume; GCS: global circumferential strain; IQR: interquartile range; LAi: left atrial indexed volume; LV: left ventricular; max: maximum; min: minimum; mPAP: mean pulmonary arterial pressure; mRAP: mean right atrial pressure; NA: not applicable; NT-proBNP: N-terminal pro-brain natriuretic peptide; PAAT: pulmonary artery acceleration time; PASP: pulmonary artery systolic pressure; PCWP: pulmonary capillary wedge pressure; PETCO2: end-tidal carbon dioxide tension; PVR: pulmonary vascular resistance; RAi: right atrial indexed volume; RER: respiratory exchange ratio; RV: right ventricular; RV S’ wave: peak systolic velocity of the tricuspid annulus; TAPSE: tricuspid annular plane systolic excursion; TI: tricuspid insufficiency; TRV: tricuspid regurgitation velocity; V′E/V′CO2: minute ventilation to carbon dioxide production ratio; V′E/V′CO2max: minute ventilation to carbon dioxide production ratio at maximum exercise; V′O2max: maximal oxygen consumption during exercise; VTE: venous thromboembolic event; WU: Wood unit. *: p<0.05; **: p<0.01; ***: p<0.001.