{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:02:56Z","timestamp":1791925376076,"version":"4.3.4"},"reference-count":39,"publisher":"European Respiratory Society (ERS)","issue":"2","content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2015,10,14]]},"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:p>Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.<\/jats:p>\n                  <jats:p>Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.<\/jats:p>\n                  <jats:p>\n                    Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in\n                    <jats:italic>BMPR2<\/jats:italic>\n                    , nine in\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    (\n                    <jats:italic>ALK1<\/jats:italic>\n                    ) and one in\n                    <jats:italic>ENG<\/jats:italic>\n                    ) and in 94 patients with a PAH family history (89% of cases; 89 mutations in\n                    <jats:italic>BMPR2<\/jats:italic>\n                    , three in\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    (\n                    <jats:italic>ALK1<\/jats:italic>\n                    ) and two in\n                    <jats:italic>KCNK3<\/jats:italic>\n                    ). Bi-allelic mutations in\n                    <jats:italic>EIF2AK4<\/jats:italic>\n                    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\n                    <jats:italic>BMPR2<\/jats:italic>\n                    mutation carriers.\n                    <jats:italic>BMPR2<\/jats:italic>\n                    screening allowed us to offer pre-implantation diagnosis to two couples with a\n                    <jats:italic>BMPR2<\/jats:italic>\n                    mutation.\n                  <\/jats:p>\n                  <jats:p>Genetic counselling can be implemented in pulmonary hypertension centres.<\/jats:p>","DOI":"10.1183\/13993003.00717-2015","type":"journal-article","created":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T23:05:19Z","timestamp":1450911919000},"page":"541-552","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":105,"title":["Genetic counselling in a national referral centre for pulmonary hypertension"],"prefix":"10.1183","volume":"47","author":[{"given":"Barbara","family":"Girerd","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Montani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Ja\u00efs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Eyries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azzedine","family":"Yaici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Sztrymf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Savale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Parent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Godinas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmund M.","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Sitbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florent","family":"Soubrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rald","family":"Simonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0703-2892","authenticated-orcid":false,"given":"Marc","family":"Humbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2015,12,23]]},"reference":[{"key":"2024102023501775000_47.2.541.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra040291"},{"key":"2024102023501775000_47.2.541.2","doi-asserted-by":"crossref","unstructured":"Gali\u00e8 N , Humbert M , Vachiery J-L , et al. 2015 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. 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