A Novel BMPR2 Mutation Associated with Pulmonary Arterial Hypertension in an Octogenarian

作者：Johri Shilpa^*; Dunnington Gan H; Vnencak Jones Cindy L

来源：Lung, 2010, 188(4): 349-352.

DOI：10.1007/s00408-010-9242-7

• Heritable
• Pulmonary arterial hypertension
• BMPR2 mutation

We describe the case of an 83-year-old man with a family history of pulmonary hypertension (PH) who presented with severe pulmonary arterial hypertension (PAH) and later tested positive for a novel bone morphogenetic protein receptor 2 (BMPR2) gene mutation. To our knowledge, this may be the oldest reported patient with PAH in whom a BMPR2 mutation was initially identified.

• 出版日期2010-8