Abstract
Pulmonary arterial hypertension (PAH) is a rare disorder with a high mortality rate. Treatment options have improved in the last 20 years, but patients still die prematurely of right heart failure. Though rare, it is heterogeneous at the genetic and molecular level, and understanding and exploiting this is key to the development of more effective treatments. BMPR2, encoding bone morphogenetic receptor type 2, is the most commonly affected gene in both familial and non-familial PAH, but rare mutations have been identified in other genes. Transcriptomic, proteomic, and metabolomic studies looking for endophenotypes are under way. There is no shortage of candidate new drug targets for PAH, but the selection and prioritisation of these are challenges for the research community.
Highlights
The normal adult pulmonary circulation, in contrast to the systemic circulation, is a low-pressure, low-resistance vascular bed
Pulmonary hypertension (PH) is diagnosed when the resting mean pulmonary artery pressure is at least 25 mmHg and is classified into five main subgroups based on clinical and haemodynamic criteria[1]. It leads to an increased workload for the right ventricle, which, if it fails to hypertrophy and adapt, can result in premature death
Pulmonary arterial hypertension (PAH) occurs less frequently—it has a reported incidence of 1.1 to 17.6 per million adults per year and a prevalence of 6.6 to 26.0 per million adults1 —and is diagnosed when the elevated mean pulmonary artery pressure (mPAP) is attributed to pre-capillary resistance to pulmonary blood flow, in the absence of airway or parenchymal lung diseases, or chronic thromboembolism[1,3]
Summary
F1000 Faculty Reviews are written by members of the prestigious F1000 Faculty. They are commissioned and are peer reviewed before publication to ensure that the final, published version is comprehensive and accessible. The reviewers who approved the final version are listed with their names and affiliations. Any comments on the article can be found at the end of the article
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