Most patients with familial pulmonary arterial hypertension (PAH) and some patients with idiopathic PAH have a mutation in the BMPR2 gene.


BMPR2 is bone morphogenetic protein receptor type-2 associated with transmembrane serine/threonine kinases.


Location of gene: 2q33


Almost 300 different mutations of BMPR2 have been identified, including of:

(1) small deletions

(2) small insertions

(3) point mutations


Mutation detection may require both sequence analysis and deletion/duplication analysis.


Lung biopsy shows widespread obliteration of the smallest pulmonary arteries. Obliteration of small arteries is associated with poor response to vasodilator therapy.


Inheritance: usually autosomal dominant (meaning that a parent is affected)


A patient with a BMPR2 tends to present at a younger age and with more severe disease than other patients with PAH.



(1) presence of pulmonary arterial hypertension

(2) presence of a mutation in BMPR2

(3) exclusion of alternative causes of PAH


Other associations:

(1) pulmonary veno-occlusive disease (VOD)

(2) appetite suppressant-related PAH (fenfluramine, other)


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