TY - JOUR T1 - Genetic counselling in pulmonary arterial hypertension: Experience from the French referal centre JF - European Respiratory Journal JO - Eur Respir J VL - 38 IS - Suppl 55 SP - 4916 AU - Barbara Girerd AU - David Montani AU - Azzedine Yaici AU - Mélanie Eyries AU - Laurent Savale AU - Benjamin Sztrymf AU - Xavier Jaïs AU - Florence Coulet AU - Florent Soubrier AU - Olivier Sitbon AU - Gérald Simonneau AU - Marc Humbert Y1 - 2011/09/01 UR - http://erj.ersjournals.com/content/38/Suppl_55/4916.abstract N2 - Background: Mutations in BMPR2 gene and more rarely in ACVRL1 and ENG genes are detected in patients displaying idiopathic pulmonary arterial hypertension (PAH), pulmonary veno-occlusive disease (PVOD) and in patients with a family history of PAH or PVOD.Aims and objectives: To screen mutations in PAH-predisposing genes in patients from the French Referal Centre and to identify high-risk relatives carrying genetic mutations.Results: Genetic counselling and testing were offered to 434 PAH patients (347 idiopathic and 87 familial) and to 66 PVOD patients (12 with a family history of PVOD). Mutations in PAH predisposing genes were identified in 58 patients with idiopathic PAH (17%) (52 BMPR2 and 6 ACVRL1 mutations) and in 73 PAH patients with a family history of PAH (84%) (69 BMPR2 and 4 ACVRL1 mutations). A BMPR2 mutation was identified in 2 PVOD patients with a family history of the disease (17%) and in only 1 PVOD patient without family history (2%).Genetic screening was offered to 167 asymptomatic relatives of BMPR2/ACVRL1 mutation carriers and a mutation was identified in 60 of them. These subjects, having a 10-20% risk of developing PAH, received clinical screening by echocardiography every 1 to 3 years and when symptoms such as exercise dyspnoea occur. We hypothesize that screening will allow early diagnosis and treatment of the disease and in turn improve patients' survival.Conclusion: Systematic search of a mutation in PAH predisposing genes allowed us to identified 134 patients carrying a mutation. Half of them had no family history of PAH, suggesting the importance to propose genetic analysis to PAH and PVOD patients with and without family history of the disease. ER -