A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian

Lung. 2010 Aug;188(4):349-52. doi: 10.1007/s00408-010-9242-7. Epub 2010 May 23.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Amlodipine / therapeutic use
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Bosentan
  • Digoxin / therapeutic use
  • Dyspnea / drug therapy
  • Dyspnea / genetics
  • Dyspnea / physiopathology
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / physiopathology*
  • Male
  • Pulmonary Artery / physiopathology*
  • Sulfonamides / therapeutic use
  • Warfarin / therapeutic use

Substances

  • Sulfonamides
  • Amlodipine
  • Warfarin
  • Digoxin
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II
  • Bosentan