RT Journal Article SR Electronic T1 Genetic counselling in a national referral centre for pulmonary hypertension JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP 541 OP 552 DO 10.1183/13993003.00717-2015 VO 47 IS 2 A1 Girerd, Barbara A1 Montani, David A1 Jaïs, Xavier A1 Eyries, Mélanie A1 Yaici, Azzedine A1 Sztrymf, Benjamin A1 Savale, Laurent A1 Parent, Florence A1 Coulet, Florence A1 Godinas, Laurent A1 Lau, Edmund M. A1 Tamura, Yuichi A1 Sitbon, Olivier A1 Soubrier, Florent A1 Simonneau, Gérald A1 Humbert, Marc YR 2016 UL http://erj.ersjournals.com/content/47/2/541.abstract AB Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD. Pre-symptomatic genetic diagnosis was offered to 272 relatives of heritable PAH patients, identifying mutations in 36.4% of them. A screening programme is now offered to asymptomatic mutation carriers to detect PAH in an early phase and to identify predictors of outcomes in asymptomatic BMPR2 mutation carriers. BMPR2 screening allowed us to offer pre-implantation diagnosis to two couples with a BMPR2 mutation.Genetic counselling can be implemented in pulmonary hypertension centres.Genetic causes of PAH and PVOD have been identified; genetic counselling can be implemented in PH centres http://ow.ly/TLbee