Genetics of pulmonary arterial hypertension: do the molecular findings have translational value?

Abstract

Pulmonary arterial hypertension (PAH) is usually a devastating condition with a poor prognosis. Nearly 10 years ago, the underlying molecular basis of heritable PAH was elucidated with the identification of mutations in the gene encoding the bone morphogenetic protein type II receptor (BMPR-II). This discovery is now beginning to suggest novel approaches to therapy in heritable PAH. Moreover, recent studies provide evidence that dysfunction of the BMPR-II pathway is a feature of non-familial forms of PAH, broadening the scope for intervention in this pathway.