National Cohort Study of Idiopathic and Heritable PAH

Idiopathic and heritable forms of pulmonary arterial hypertension (PAH) are devastating conditions associated with high morbidity and mortality. The disease is usually diagnosed late by finding a markedly increased pulmonary arterial pressure (increased blood pressure in the arteries of the lungs), the result of progressive narrowing and obliteration of the pulmonary vasculature, which often results in failure of the right ventricle. This disease tends to present in the middle decades of life, with a female predominance.

A major breakthrough in our understanding of the molecular basis of hypertension PAH was the identification of heterozygous germline mutations in the bone morphogenetic protein type II receptor (BMPR-II) in the majority (>70%) of familial cases of the disease and a significant proportion (15-26%) of sporadic cases. Although the presence of mutations in BMPR-II is the greatest risk factor for the development of PAH, it is estimated that only 20% of carriers develop the disease. Additional factors are required for disease manifestation. These may be genetic and/or environmental, though the identity of these factors remains unknown.

The National Pulmonary Hypertension Centres of UK and Ireland have established a research network to address these major questions in PAH. We aim to recruit as many patients and relatives as possible over the next 5 years. We will look for additional mutations in genes using whole genome sequencing to identify a more complete understanding of the genetic contribution to PAH. Long term follow up of patients and their relatives will provide important information about how genetic mutations affect outcome and response to treatment. We also hope to learn what environmental triggers are involved in the development of PAH. The information we learn will allow us to provide better estimates of risk of developing PAH to family members and identify new ways of treating this disease.

Current Recruitment total: 644

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