Clinical Outcomes of Pulmonary Arterial Hypertension in Patients Carrying an ACVRL1 (ALK1) Mutation

• DOI: 10.1164/rccm.200908-1284oc
• Publication Date: 2010-01-08T04:45:18Z
• Authors: Barbara Girerd; David Montani; Florence Coulet; Benjamin Sztrymf; Azzeddine Yaici; Xavier Jaïs; David Tregouet; Abilio Reis; Valérie Drouin-Ga...; Alain Fraisse; Olivier Sitbon; Dermot S. O'Calla...; Gérald Simonneau; Florent Soubrier; Marc Humbert
• Keywords: ACVRL1; BMPR2

Rationale: Activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) mutation is a cause of hereditary hemorrhagic telangiectasia (HHT) and/or heritable pulmonary arterial hypertension (PAH).Objectives: To describe the characteristics patients with PAH carrying an ACVRL1 mutation.Methods: We reviewed clinical, functional, and hemodynamic 32 mutation, corresponding to 9 from French Network 23 literature analysis. These cases were compared 370 (93 bone morphogenetic protein 2 [BMPR2] 277 considered idiopathic without identified mutation). Distribution mutations in gene was HHT Mutation Database.Measurements Main Results: At diagnosis, carriers significantly younger (21.8 ± 16.7 yr) than BMPR2 noncarriers (35.7 14.9 47.6 16.3 yr, respectively; P < 0.0001). In seven nine Network, diagnosis preceded manifestations HHT. had better status at but none responded acute vasodilator challenge they shorter survival when other despite similar use specific therapies. exon 10 more frequently observed PAH, what Database (33.3 vs. 5%; 0.0001).Conclusions: characterized by age diagnosis. Despite less severe initial hemodynamics management, these worse prognosis suggesting rapid disease progression.