Korean J Med.
2010 Dec;79(6):691-696.
A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency
- Affiliations
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- 1Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. dkkim@skku.edu
- 2Department of Thoracic and Cardiovascular Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- 3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Abstract
- Presented is a case study of a 39-year-old man with chronic thromboembolic pulmonary hypertension (CTEPH) and an underlying antithrombin III (AT III) deficiency. The subject presented with severe dyspnea (NYHA functional class III). A diagnostic workup led to a diagnosis of pulmonary thromboembolism and severe pulmonary hypertension with right ventricular failure. Genetic analysis revealed a novel nonsense mutation (c.243G>A) in SERPINC1. Pulmonary thromboendarterectomy was performed following the insertion of an inferior vena cava filter. After one year, the subject remained in NYHA functional class I and exhibited normal right ventricular function. This is the first report of a genetically confirmed AT III deficiency complicated by CTEPH in Korea.
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