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Abstract

Pulmonary arterial hypertension (PAH) is a rare disease with a high mortality rate. Although treatment options have improved over the past two decades, patients still die prematurely from right heart failure. Although rare, they are heterogeneous at the genetic and molecular level, and understanding and exploiting this fact is key to developing more effective treatments. BMPR2, which encodes bone morphogenetic receptor type 2, is the most commonly affected gene in both familial and non-familial PAH, although rare mutations have been identified in other genes. Transcriptome, proteomics, and metabolomics studies to search for endophenotypes are ongoing. Although there is no shortage of potential new drug targets in PAH, their selection and prioritization is a challenge for the research community.