BMPR2 mutation carriers with PAH presented at a younger age (36.5 vs 46.0 years, P<0.0001) with more severe hemodynamic compromise and a shorter time to death or lung transplantation (P=0.044).
Cohort (n=223)
Yes
Does BMPR2 mutation status influence clinical outcomes and hemodynamic characteristics in patients with idiopathic or familial PAH?
BMPR2 mutation carriers with PAH present approximately 10 years earlier and with more severe hemodynamic compromise than noncarriers, leading to earlier death or lung transplantation.
p-value: p=0.044
Abstract Rationale Germline mutations in the gene encoding for bone morphogenetic protein receptor 2 (BMPR2) are a cause of pulmonary arterial hypertension (PAH). Objectives We conducted a study to determine the influence, if any, of a BMPR2 mutation on clinical outcome. Methods The French Network of Pulmonary Hypertension obtained data for 223 consecutive patients displaying idiopathic or familial PAH in whom point mutation and large size rearrangements of BMPR2 were screened for. Clinical, functional, and hemodynamic characteristics, as well as outcomes, were compared in BMPR2 mutation carriers and noncarriers. Measurements and Main Results Sixty-eight BMPR2 mutation carriers (28 familial and 40 idiopathic PAH) were compared with 155 noncarriers (all displaying idiopathic PAH). As compared with noncarriers, BMPR2 mutation carriers were younger at diagnosis of PAH (36.5 ± 14.5 vs. 46.0 ± 16.1 yr, P 0.0001), had higher mean pulmonary artery pressure (64 ± 13 vs. 56 ± 13 mm Hg, P 0.0001), lower cardiac index (2.13 ± 0.68 vs. 2.50 ± 0.73 L/min/m2, P = 0.0005), higher pulmonary vascular resistance (17.4 ± 6.1 vs. 12.7 ± 6.6 mm Hg/L/min/m2, P 0.0001), lower mixed venous oxygen saturation (59 ± 9% vs. 63 ± 9%, P = 0.02), shorter time to death or lung transplantation (P = 0.044), and younger age at death (P = 0.002), but similar overall survival (P = 0.51). Conclusions BMPR2 mutation carriers with PAH present approximately 10 years earlier than noncarriers, with a more severe hemodynamic compromise at diagnosis.
Sztrymf et al. (2008) conducted a cohort in Pulmonary arterial hypertension (PAH) (n=223). BMPR2 mutation vs. No BMPR2 mutation was evaluated on Time to death or lung transplantation (p=0.044). BMPR2 mutation carriers with PAH presented at a younger age (36.5 vs 46.0 years, P<0.0001) with more severe hemodynamic compromise and a shorter time to death or lung transplantation (P=0.044).