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SHR Neuro Cancer Cardio Lipid Metab Microb

Pfarr, N; Szamalek-Hoegel, J; Fischer, C; Hinderhofer, K; Nagel, C; Ehlken, N; Tiede, H; Olschewski, H; Reichenberger, F; Ghofrani, AH; Seeger, W; Grünig, E.
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Respir Res. 2011; 12(12):99-99 Doi: 10.1186/1465-9921-12-99 [OPEN ACCESS]
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Co-authors Med Uni Graz: Olschewski Horst
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Abstract:: 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. 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. 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. 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.
Find related publications in this database (using NLM MeSH Indexing): Adolescent -; Adult -; Age of Onset -; Aged -; Bone Morphogenetic Protein Receptors, Type II - genetics; Cardiac Catheterization -; Case-Control Studies -; DNA Mutational Analysis -; Familial Primary Pulmonary Hypertension -; Female -; Gene Frequency -; Genetic Predisposition to Disease -; Genetic Testing - methods; Genetic Testing -; Hemodynamics - genetics; Heredity -; Humans -; Hypertension, Pulmonary - diagnosis; Hypertension, Pulmonary - epidemiology; Hypertension, Pulmonary - genetics; Hypertension, Pulmonary - physiopathology; Male -; Middle Aged -; Mutation -; Pedigree -; Phenotype -; Prospective Studies -; Severity of Illness Index -; Young Adult -