title: A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian.
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.
authors.affiliation: Pulmonary Associates of Richmond, 1603 Santa Rosa Road, Suite 101, Richmond, VA 23229, USA. shilpa.johri@gmail.com
authors.forename: Shilpa
authors.initials: S
authors.lastname: Johri
authors.forename: Gan H
authors.initials: GH
authors.lastname: Dunnington
authors.forename: Cindy L
authors.initials: CL
authors.lastname: Vnencak-Jones
mesh_terms: D000369:Aged, 80 and over; D017311:Amlodipine / Q000627:therapeutic use; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D000077300:Bosentan; D004077:Digoxin / Q000627:therapeutic use; D004417:Dyspnea / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D011651:Pulmonary Artery / Q000503:physiopathology*; D013449:Sulfonamides / Q000627:therapeutic use; D014859:Warfarin / Q000627:therapeutic use
chemical_list: D013449:Sulfonamides; D017311:Amlodipine; D014859:Warfarin; D004077:Digoxin; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II; D000077300:Bosentan