Clinical and haemodynamic characteristics of carriers of the BMPR2 p.Arg491Gln mutation
| Healthy carriers (n=14) | Affected carriers (n=8) | |
| Sex (female): n (%) | 6 (42.9) | 5 (62.5) |
| Years free of PAH: mean±SD | 45.3±26.8 | 36.2±23.1 |
| PAPs echocardiogram (mm Hg): mean±SD | NA* | 90±0 (n=2)† |
| PAPs right heart catheterisation (mm Hg): mean±SD | 23 (n=1)‡ | 81±14.8 (n=7)§ |
| PAPm (mm Hg): mean±SD | 17 (n=1)‡ | 52±10 (n=7)¶ |
| CI (L/min/m2): mean±SD | 2.23 (n=1)‡ | 2.05±0.88 (n=6)¶ |
| PAWP (mm Hg): mean±SD | 12 (n=1)‡ | 9±3 (n=5)¶ |
| PVR (WU): mean±SD | 1.54 (n=1)‡ | 15±7.94 (n=4)¶ |
*No PAPs values could be measured by echocardiogram for five screened healthy carriers due to lack of tricuspid regurgitation. The remaining nine healthy carriers were not screened, or had no data available.
†The only two affected carriers with echocardiogram PAPs values were measured immediately prior to the diagnosis by right-heart catheterisation.
‡Individual T29 was the only healthy carrier to undergo right-heart catheterisation.
§All the eight affected individuals were diagnosed with a PAPm ≥25 mm Hg after right-heart catheterisation. This abnormal measure was confirmed for all the individuals by their specialist of reference, although we lacked the PAPm-specific value for one of the affected patients (S18).
¶The haemodynamic parameters (CI, PAWP, PVR) were determined by right-heart catheterisation for all the affected individuals, although for some of these, the actual values are not available.
PAPs, pulmonary arterial pressure (systolic); PAPm, pulmonary arterial pressur (mean); CI, cardiac index; PAWP, pulmonary arterial wedge pressure ; PVR, pulmonary vascular resistance.