BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension

• Published in: Lung Vol. 192; no. 4; pp. 625 - 627
• Main Authors: Feng, Yu-Xuan, Liu, Dong, Sun, Ming-Li, Jiang, Xin, Sun, Na, Mao, Yi-Min, Jing, Zhi-Cheng
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.08.2014; Springer; Springer Nature B.V
• Subjects: Adult; Anticoagulants - therapeutic use; Antihypertensive Agents - therapeutic use; Bone Morphogenetic Protein Receptors, Type II - genetics; Care and treatment; Chronic Disease; Complications and side effects; Development and progression; DNA Mutational Analysis; Fatal Outcome; Female; Gene mutations; Genes; Genetic aspects; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Hypertension, Pulmonary - diagnosis; Hypertension, Pulmonary - genetics; Hypertension, Pulmonary - physiopathology; Hypertension, Pulmonary - therapy; Medicine; Medicine & Public Health; Mutation; Mutation, Missense; Patient outcomes; Phenotype; Pneumology/Respiratory System; Pulmonary embolism; Pulmonary Embolism - diagnosis; Pulmonary Embolism - genetics; Pulmonary Embolism - physiopathology; Pulmonary Embolism - therapy; Pulmonary hypertension; Risk factors; Time Factors; Treatment Outcome; United States; China; Chronic thromboembolic pulmonary hypertension; Gene mutation; Bone morphogenetic protein receptor 2
• ISSN: 0341-2040; 1432-1750
• DOI: 10.1007/s00408-014-9580-y

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.