Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations
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 no...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
29 July 2011
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| In: |
Respiratory research
Year: 2011, Volume: 12, Issue: 1, Pages: 1-10 |
| ISSN: | 1465-993X |
| DOI: | 10.1186/1465-9921-12-99 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1465-9921-12-99
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| Author Notes: | 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 |
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| 245 | 1 | 0 | |a Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations |c 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 |
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| 520 | |a 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. | ||
| 650 | 4 | |a Adolescent | |
| 650 | 4 | |a Adult | |
| 650 | 4 | |a Age of Onset | |
| 650 | 4 | |a Aged | |
| 650 | 4 | |a Bone Morphogenetic Protein Receptors, Type II | |
| 650 | 4 | |a Cardiac Catheterization | |
| 650 | 4 | |a Case-Control Studies | |
| 650 | 4 | |a DNA Mutational Analysis | |
| 650 | 4 | |a Familial Primary Pulmonary Hypertension | |
| 650 | 4 | |a Female | |
| 650 | 4 | |a Gene Frequency | |
| 650 | 4 | |a Genetic Predisposition to Disease | |
| 650 | 4 | |a Genetic Testing | |
| 650 | 4 | |a Germany | |
| 650 | 4 | |a Hemodynamics | |
| 650 | 4 | |a Heredity | |
| 650 | 4 | |a Humans | |
| 650 | 4 | |a Hypertension, Pulmonary | |
| 650 | 4 | |a Male | |
| 650 | 4 | |a Middle Aged | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a Pedigree | |
| 650 | 4 | |a Phenotype | |
| 650 | 4 | |a Prospective Studies | |
| 650 | 4 | |a Severity of Illness Index | |
| 650 | 4 | |a Young Adult | |
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