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- Title
BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension.
- Authors
Feng, Yu-Xuan; Liu, Dong; Sun, Ming-Li; Jiang, Xin; Sun, Na; Mao, Yi-Min; Jing, Zhi-Cheng
- Abstract
Introduction: Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR 2) 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. Materials and Methods: 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). Conclusion: 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.
- Subjects
PULMONARY hypertension; BONE morphogenetic protein receptors; BONE morphogenetic proteins; PULMONARY artery diseases; ETIOLOGY of diseases
- Publication
Lung, 2014, Vol 192, Issue 4, p625
- ISSN
0341-2040
- Publication type
Report
- DOI
10.1007/s00408-014-9580-y