<i>Bone morphogenetic protein receptor type 2</i> mutations, clinical phenotypes and outcomes of <scp>J</scp>apanese patients with sporadic or familial pulmonary hypertension

Abstract

The prevalence of BMPR2 mutations in Japanese with PAH was similar to that reported in other populations. At onset of PAH, BMPR2 mutation non-carriers were, on average, younger than carriers, possibly due to the heterogeneity of this subpopulation. With state-of-the-art therapy, the long-term survival of patients with PAH was high, regardless of the mutation status.