About Hereditary Pulmonary Arterial Hypertension
Hereditary pulmonary arterial hypertension is a rare, life-threatening condition caused by autosomal dominant mutations, most commonly in BMPR2, leading to progressive obliterative remodelling of small pulmonary arteries and right heart failure. Penetrance is incomplete (approximately 20%), and the disease shows variable expressivity, making genetic family screening essential. Despite advances in targeted therapies addressing the prostacyclin, endothelin, and nitric oxide pathways, there is no cure and prognosis remains guarded without transplantation.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Hereditary Pulmonary Arterial Hypertension trials.
Right heart catheterisation confirming mPAP ≥25 mmHg at rest with PAWP ≤15 mmHg is the diagnostic gold standard required for most PAH trials; ensure this is on file.
Genetic mutation status (particularly BMPR2) is increasingly used as a stratification variable; obtain formal genetic testing before applying.
Baseline 6-minute walk distance and WHO functional class are near-universal eligibility and stratification criteria; obtain these measurements close to the trial screening date.
Patient Resources
Natural History Registry
PHAR Registry (Pulmonary Hypertension Association Registry)
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