Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Table 2 Clinical characteristics of patients at the time of diagnosis of PAH, according to NMD pathway status of the BMPR2 mutation.

NMD status of *BMPR2* mutation	'NMD active' (Truncating) (n = 55)	'NMD absent' (Missense) (n = 41)	P value*
Age at Diagnosis, yrs	39.9 (36.3-43.5)	30.6 (25.9-35.3)	0.004
Gender, female/male	2.6/1	1.7/1	0.82
RAP, mm Hg	11.4 (7.4-15.3)	10.5 (8.1-13.0)	0.74
Mean PAP, mm Hg	56.5 (51.6-61.5)	60.0 (54.9-65.2)	0.42
PCWP, mm Hg	11.1 (8.5-13.6)	10.3 (8.4-12.2)	0.74
CI, L/min/m²	1.8 (1.5-2.1)	1.9 (1.8-2.1)	0.16
PVR, mm Hg/L/min	18.4 (11.4-25.3)	17.9 (12.7-23.1)	0.78
Sv_O2, %	58.6 (51.2-65.3)	57.3 (52.8-61.7)	0.19

* All P values calculated using Mann-Whitney U test.
† 95% Confidence Interval values calculated using univariable ANOVA
Definition of abbreviations: CI = cardiac index; PAH = pulmonary arterial hypertension; PCWP = pulmonary capillary wedge pressure; PAP = pulmonary artery pressure; PVR = pulmonary vascular resistance; RAP = right atrial pressure; Sv_O2 = mixed venous oxygen saturation.

ISSN: 1465-993X