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Status: Bibliographieeintrag

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Verfasst von:Pfarr, Nicole [VerfasserIn]   i
 Szamalek-Hoegel, Justyna [VerfasserIn]   i
 Fischer, Christine [VerfasserIn]   i
 Hinderhofer, Katrin [VerfasserIn]   i
 Nagel, Christian [VerfasserIn]   i
 Benjamin, Nicola [VerfasserIn]   i
 Tiede, Henning [VerfasserIn]   i
 Olschewski, Horst [VerfasserIn]   i
 Reichenberger, Frank [VerfasserIn]   i
 Ghofrani, Ardeschir H. A. [VerfasserIn]   i
 Seeger, Werner [VerfasserIn]   i
 Grünig, Ekkehard [VerfasserIn]   i
Titel:Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations
Verf.angabe:Nicole Pfarr, Justyna Szamalek-Hoegel, Christine Fischer, Katrin Hinderhofer, Christian Nagel, Nicola Ehlken, Henning Tiede, Horst Olschewski, Frank Reichenberger, Ardeschir H. A. Ghofrani, Werner Seeger and Ekkehard Grünig
E-Jahr:2011
Jahr:29 July 2011
Umfang:10 S.
Fussnoten:Gesehen am 08.12.2022
Titel Quelle:Enthalten in: Respiratory research
Ort Quelle:London : BioMed Central, 2001
Jahr Quelle:2011
Band/Heft Quelle:12(2011), 1, Artikel-ID 99, Seite 1-10
ISSN Quelle:1465-993X
Abstract: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 significantly younger at diagnosis than non-carriers (38.53 ± 12.38 vs. 45.78 ± 11.32 years, p < 0.001) and had a more severe hemodynamic compromise. No gene defects have been detected in 3 patients with HPAH. - CONCLUSION: This study identified in a large prospectively assessed cohort of PAH- patients new BMPR2 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 BMPR2 mutations may be clinically useful.
DOI:doi:10.1186/1465-9921-12-99
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1186/1465-9921-12-99
 DOI: https://doi.org/10.1186/1465-9921-12-99
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Adolescent
 Adult
 Age of Onset
 Aged
 Bone Morphogenetic Protein Receptors, Type II
 Cardiac Catheterization
 Case-Control Studies
 DNA Mutational Analysis
 Familial Primary Pulmonary Hypertension
 Female
 Gene Frequency
 Genetic Predisposition to Disease
 Genetic Testing
 Germany
 Hemodynamics
 Heredity
 Humans
 Hypertension, Pulmonary
 Male
 Middle Aged
 Mutation
 Pedigree
 Phenotype
 Prospective Studies
 Severity of Illness Index
 Young Adult
K10plus-PPN:1826625852
Verknüpfungen:→ Zeitschrift

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