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.
Diagnosis:
(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)
