BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.

ABSTRACT:

Background

Mutations in the gene encoding the bone morphogenetic protein receptor type II (BMPR2) are the commonest genetic cause of pulmonary arterial hypertension (PAH). However, the effect of BMPR2 mutations on clinical phenotype and outcomes remains uncertain.

Methods

We analysed individual participant data of 1550 patients with idiopathic, heritable, and anorexigen-associated PAH from eight cohorts that had been systematically tested for BMPR2 mutations. The primary outcome was the composite of death or lung transplantation. All-cause mortality was the secondary outcome. Hazard ratios (HRs) for death or transplantation and all-cause mortality associated with the presence of BMPR2 mutation were calculated using Cox proportional hazards models stratified by cohort.

Fin

SUBMITTER: Evans JD 

PROVIDER: S-EPMC4737700 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature