Korean J Med.
2012 Aug;83(2):238-242.
A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation
- Affiliations
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- 1Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. elisabet.chang@gmail.com
- 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 3Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, Incheon, Korea.
Abstract
- Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.
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