A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency / 대한내과학회지

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.