title: Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
abstract: BACKGROUND
  Germline mutations in the gene encoding for bone morphogenetic protein receptor 2 (BMPR2) are a cause of pulmonary arterial hypertension (PAH).
  
  
  OBJECTIVE
  We conducted a study to determine the influence, if any, of a BMPR2 mutation on clinical outcome.
  
  
  METHODS
  The French Network of Pulmonary Hypertension obtained data for 223 consecutive patients displaying idiopathic or familial PAH in whom point mutation and large size rearrangements of BMPR2 were screened for. Clinical, functional, and hemodynamic characteristics, as well as outcomes, were compared in BMPR2 mutation carriers and noncarriers.
  
  
  RESULTS
  Sixty-eight BMPR2 mutation carriers (28 familial and 40 idiopathic PAH) were compared with 155 noncarriers (all displaying idiopathic PAH). As compared with noncarriers, BMPR2 mutation carriers were younger at diagnosis of PAH (36.5 +/- 14.5 vs. 46.0 +/- 16.1 yr, P < 0.0001), had higher mean pulmonary artery pressure (64 +/- 13 vs. 56 +/- 13 mm Hg, P < 0.0001), lower cardiac index (2.13 +/- 0.68 vs. 2.50 +/- 0.73 L/min/m(2), P = 0.0005), higher pulmonary vascular resistance (17.4 +/- 6.1 vs. 12.7 +/- 6.6 mm Hg/L/min/m(2), P < 0.0001), lower mixed venous oxygen saturation (59 +/- 9% vs. 63 +/- 9%, P = 0.02), shorter time to death or lung transplantation (P = 0.044), and younger age at death (P = 0.002), but similar overall survival (P = 0.51).
  
  
  CONCLUSIONS
  BMPR2 mutation carriers with PAH present approximately 10 years earlier than noncarriers, with a more severe hemodynamic compromise at diagnosis.
authors: Université Paris-Sud 11, Service de Pneumologie et Réanimation Respiratoire, Hôpital Antoine-Béclère, 157 rue de la Porte de Trivaux, 92140 Clamart, France.
authors: Benjamin
authors: B
authors: Sztrymf
authors: Florence
authors: F
authors: Coulet
authors: Barbara
authors: B
authors: Girerd
authors: Azzedine
authors: A
authors: Yaici
authors: Xavier
authors: X
authors: Jais
authors: Olivier
authors: O
authors: Sitbon
authors: David
authors: D
authors: Montani
authors: Rogério
authors: R
authors: Souza
authors: Gerald
authors: G
authors: Simonneau
authors: Florent
authors: F
authors: Soubrier
authors: Marc
authors: M
authors: Humbert
mesh_terms: D000328:Adult; D017668:Age of Onset; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006439:Hemodynamics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion; D015996:Survival Rate
chemical_list: C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II