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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

Pfarr, Nicole ; Szamalek-Hoegel, Justyna ; Fischer, Christine ; Hinderhofer, Katrin ; Nagel, Christian ; Ehlken, Nicola ; Tiede, Henning ; Olschewski, Horst ; Reichenberger, Frank ; Ghofrani, Ardeschir HA ; Seeger, Werner ; Grünig, Ekkehard

In: Respiratory Research, 12 (2011), Nr. 99. pp. 1-10. ISSN 1465-993X

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Download (501kB) | Lizenz: Creative Commons LizenzvertragHemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations by Pfarr, Nicole ; Szamalek-Hoegel, Justyna ; Fischer, Christine ; Hinderhofer, Katrin ; Nagel, Christian ; Ehlken, Nicola ; Tiede, Henning ; Olschewski, Horst ; Reichenberger, Frank ; Ghofrani, Ardeschir HA ; Seeger, Werner ; Grünig, Ekkehard underlies the terms of Creative Commons Attribution 3.0 Germany

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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.

Item Type: Article
Journal or Publication Title: Respiratory Research
Volume: 12
Number: 99
Publisher: BioMed Central
Place of Publication: London
Date Deposited: 25 May 2016 12:21
Date: 2011
ISSN: 1465-993X
Page Range: pp. 1-10
Faculties / Institutes: Medizinische Fakultät Heidelberg > Medizinische Universitäts-Klinik und Poliklinik
Medizinische Fakultät Heidelberg > Institut für Humangenetik
Medizinische Fakultät Heidelberg > Thoraxklinik Heidelberg gGmbH
Subjects: 610 Medical sciences Medicine
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