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KMID : 0882420100790060691
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Korean Journal of Medicine
2010 Volume.79 No. 6 p.691 ~ p.696
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A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency
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Lee Mi-Rae
Kim Mi-Yeon
Bae Sun-Youn
Jeong Ho-Jung
Park Pyo-Won
Kim Hee-Jin
Kim Duk-Kyung
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Abstract
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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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KEYWORD
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Antithrombin III deficiency, Pulmonary thromboembolism, Thromboendarterectomy
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