A national resource to study pulmonary arterial hypertension

National Cohort Study of Heritable Pulmonary Arterial Hypertension

The BHF have awarded a grant to Professor Nick Morell at the University of Cambridge to establish a cohort of patients with pulmonary arterial hypertension (PAH) and their families throughout the United Kingdom and Ireland. The cohort will allow researchers to create a bank of samples from patients and their families and follow them up for several years to address the many unanswered questions about PAH. PAH is characterised by abnormally high blood pressure in the arteries carrying blood to the lungs, causing damage to the right side of the heart. Although the cause is usually unknown, in around half of cases the disease can run in families. Around 70% of these familial cases, and around 20% of other non-inheritable cases, are due to an alteration in a gene for a specific protein that controls how blood vessels grow and function, called bone morphogenetic protein receptor type 2 (or BMPR2). Alterations in this gene only seem to have effects on lung arteries. But it appears that BMPR2 is not the whole story. Although it is the greatest risk factor for PAH, not everyone who carries the alteration will get the disease, in fact only around one fifth do. This means that other factors are very likely to play a role. Prof Morrell and the team suspect that alterations in other similar genes, or environmental factors, could be responsible for other cases of PAH. The national PAH cohort will include a mixture of people with alterations in BMPR2 and their families, and people where PAH has arisen from no known cause. This vital resource could reveal more about how PAH develops, and may reveal new ways of preventing and treating the disease in the future. It will be invaluable to scientists looking for other genetic or environmental causes and triggers and those looking for ways to predict which individual patients will respond to treatment.