Hereditary Pulmonary Arterial Hypertension (HPAH) is associated with Bone Morphogenic Protein Receptor 2 (BMPR2) mutations.
We aim to describe a novel mutation of BMPR2 in a patient with HPAH.
Materials and methods
A 29-year-old gentleman diagnosed with Idiopathic Pulmonary Arterial Hypertension (IPAH) was analysed for mutations in the BMPR2 gene by sequencing. His mother and younger sister (only sibling) had IPAH and succumbed to disease. Interestingly he had followed the same path on dual therapy (sildenafil and ambrisentan), was initiated on imatinib mesylate and currently has improved to functional class I from IV with complete resolution of heart failure.
Sequence analysis revealed a novel missense mutation, a T-to-C transition at position c.346T>C in exon 3 of the BMPR2 gene. This missense mutation leads to the replacement of cytosine by arginine at the position 116 (C116R), which is within the extracellular domain of the BMPR2.
We describe a novel BMPR2 mutation in a patient with HPAH. The therapeutic response to imatinib specific to this mutation needs to be explored