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Báo cáo y học: " Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài: " Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. | Pfarr et al. Respiratory Research 2011 12 99 http respiratory-research.eom content 12 1 99 RESPIRATORY RESEARCH RESEARCH Open Access Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations 1.2t 2t 2t 2 1 Nicole Pfarr Justyna Szamalek-Hoegel Christine Fischer Katrin Hinderhofer Christian Nagel l I I r I 1 c L I I 1 I_I I z t I IZ X3 I_I f lr l k tA r l.zi4 p. r r3 A r r r L I r I_I A cd L r ỉr sv ki3 A r i c z t M 3 Nicola Ehlken Henning Tiede Horst Olschewski Frank Reichenberger Ardeschir HA Ghorrani Werner Seeger and Ekkehard Grunig1 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