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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations by Nicole Pfarr; Justyna Szamalek-Hoegel; Christine Fischer; Katrin Hinderhofer; Christian Nagel; Nicola Ehlken; Henning Tiede; Horst Olschewski; Frank Reichenberger; Ardeschir HA Ghofrani; Werner Seeger; Ekkehard Grünig is a Medicine article available to read on EtoBox.
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## Background Mutations in the __bone morphogenetic protein receptor 2__ (__BMPR2__) gene can lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened for __BMPR2__ mutations in a large cohort of PAH-patients and compared clinical features between __BMPR2__ mutation carriers and non-carriers. ## Methods 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 __BMPR2__ mutations. In non-carriers with familial aggregation of PAH further genes/gene regions as the __BMPR2__ promoter region, the __ACVRL1__, __Endoglin__, and __SMAD8__ genes have been analysed. ## Results 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 __BMPR2__ gene have been identified. Twelve __BMPR2__ mutations and 3 unclassified sequence variants have not yet been described before. Mutation carriers were
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- Author
- Nicole Pfarr; Justyna Szamalek-Hoegel; Christine Fischer; Katrin Hinderhofer; Christian Nagel; Nicola Ehlken; Henning Tiede; Horst Olschewski; Frank Reichenberger; Ardeschir HA Ghofrani; Werner Seeger; Ekkehard Grünig
- Publisher
- BioMed Central; Springer (Biomed Central Ltd.); [London]: Current Science Ltd, 2000-; [London]: BioMed Central; Springer Science and Business Media LLC (ISSN 1465-9921)
- Published
- 2011
- Language
- EN
- Field
- Medicine (Health Sciences)