| Online-Ressource |
Verfasst von: | Pfarr, Nicole [VerfasserIn]  |
| Szamalek-Hoegel, Justyna [VerfasserIn]  |
| Fischer, Christine [VerfasserIn]  |
| Hinderhofer, Katrin [VerfasserIn]  |
| Nagel, Christian [VerfasserIn]  |
| Benjamin, Nicola [VerfasserIn]  |
| Tiede, Henning [VerfasserIn]  |
| Olschewski, Horst [VerfasserIn]  |
| Reichenberger, Frank [VerfasserIn]  |
| Ghofrani, Ardeschir H. A. [VerfasserIn]  |
| Seeger, Werner [VerfasserIn]  |
| Grünig, Ekkehard [VerfasserIn]  |
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 |
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations / Pfarr, Nicole [VerfasserIn]; 29 July 2011 (Online-Ressource)