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.