Abstract
Introduction
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.
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.
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Conflict of interest
ZCJ has relationships with drug companies, including Actelion, Bayer Schering, Pfizer, and United Therapeutics, in addition to being an investigator in trials sponsored by these companies; relationships include consultancy services and membership of scientific advisory boards. None of the other authors has any conflict of interest to declare regarding the content of this article.
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Drs Yu-Xuan Feng and Dong Liu contributed equally to this study.
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Feng, YX., Liu, D., Sun, ML. et al. BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension. Lung 192, 625–627 (2014). https://doi.org/10.1007/s00408-014-9580-y
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DOI: https://doi.org/10.1007/s00408-014-9580-y