BMPR2 mutation and clinical response to imatinib in a case of heritable pulmonary arterial hypertension

Abstract

Abstract Bone morphogenetic protein receptor 2 (BMPR2) mutation is the most common gene mutation implicated in the pathogenesis of pulmonary arterial hypertension (PAH). We describe, for the first time, an excellent clinical response to tyrosine kinase inhibitor imatinib in a patient with heritable PAH from BMPR2 mutation.

Keywords

• Bmpr2 mutation
• hereditary
• imatinib
• pulmonary hypertension