BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension
Beiträge zur Klinik der Tuberkulose und spezifischen Tuberkulose-Forschung - Tập 192 - Trang 625-627 - 2014
Tóm tắt
Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease. In this study we identified a missense mutation (c.2296A > G) located in BMPR2 exon 12 in a patient with chronic thromboembolic pulmonary hypertension (CTEPH). It is the first report of a BMPR2 mutation in CTEPH. Our study provides innovative insight into etiology of CTEPH. The genetic predisposing factor is an important component in the process of this CTEPH patient.
Tài liệu tham khảo
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