{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:02:44Z","timestamp":1790416964034,"version":"4.1.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Respir Res"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mutations in the <jats:italic>bone morphogenetic protein receptor 2<\/jats:italic> (<jats:italic>BMPR2<\/jats:italic>) gene can lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened for <jats:italic>BMPR2<\/jats:italic> mutations in a large cohort of PAH-patients and compared clinical features between <jats:italic>BMPR2<\/jats:italic> mutation carriers and non-carriers.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Patients have been assessed by right heart catheterization and genetic testing. In all patients a detailed family history and pedigree analysis have been obtained. We compared age at diagnosis and hemodynamic parameters between carriers and non-carriers of <jats:italic>BMPR2<\/jats:italic> mutations. In non-carriers with familial aggregation of PAH further genes\/gene regions as the <jats:italic>BMPR2<\/jats:italic> promoter region, the <jats:italic>ACVRL1<\/jats:italic>, <jats:italic>Endoglin<\/jats:italic>, and <jats:italic>SMAD8<\/jats:italic> genes have been analysed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Of the 231 index patients 22 revealed a confirmed familial aggregation of the disease (HPAH), 209 patients had sporadic IPAH. In 49 patients (86.3% of patients with familial aggregation and 14.3% of sporadic IPAH) mutations of the <jats:italic>BMPR2<\/jats:italic> gene have been identified. Twelve <jats:italic>BMPR2<\/jats:italic> mutations and 3 unclassified sequence variants have not yet been described before. Mutation carriers were significantly younger at diagnosis than non-carriers (38.53 \u00b1 12.38 vs. 45.78 \u00b1 11.32 years, p &lt; 0.001) and had a more severe hemodynamic compromise. No gene defects have been detected in 3 patients with HPAH.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This study identified in a large prospectively assessed cohort of PAH- patients new <jats:italic>BMPR2<\/jats:italic> mutations, which have not been described before and confirmed previous findings that mutation carriers are younger at diagnosis with a more severe hemodynamic compromise. Thus, screening for <jats:italic>BMPR2<\/jats:italic> mutations may be clinically useful.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1465-9921-12-99","type":"journal-article","created":{"date-parts":[[2011,7,29]],"date-time":"2011-07-29T18:23:43Z","timestamp":1311963823000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations"],"prefix":"10.1186","volume":"12","author":[{"given":"Nicole","family":"Pfarr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Szamalek-Hoegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hinderhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Nagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Ehlken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Tiede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horst","family":"Olschewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Reichenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ardeschir HA","family":"Ghofrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Seeger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehard","family":"Gr\u00fcnig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,12,1]]},"reference":[{"key":"1129_CR1","doi-asserted-by":"publisher","first-page":"S32","DOI":"10.1016\/j.jacc.2009.04.015","volume":"54","author":"RD Machado","year":"2009","unstructured":"Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA, Soubrier F, Trembath RC, Chung WK: Genetics and genomics of pulmonary arterial hypertension. 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