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• W2053550674 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." @default.
• W2053550674 created "2016-06-24" @default.
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• W2053550674 date "2008-06-15" @default.
• W2053550674 modified "2023-10-10" @default.
• W2053550674 title "Clinical Outcomes of Pulmonary Arterial Hypertension in Carriers of <i>BMPR2</i> Mutation" @default.
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• W2053550674 doi "https://doi.org/10.1164/rccm.200712-1807oc" @default.
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