The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
권호 표지

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

유전성 항트롬빈 결핍증이 동반된 만성 폐혈전색전성 폐동맥 고혈압 1예

  • Lee, Mi-Rae (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Mi-Yeon (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Bae, Sun-Youn (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Chung, Ho-Jung (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Pyo-Won (Department of Thoracic and Cardiovascular Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Hee-Jin (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Duk-Kyung (Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 이미래 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 김미연 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 배선윤 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 정호중 (성균관대학교 의과대학 삼성서울병원 내과) ;
  • 박표원 (성균관대학교 의과대학 삼성서울병원 흉부외과) ;
  • 김희진 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 김덕경 (성균관대학교 의과대학 삼성서울병원 내과)
  • Received : 2009.10.04
  • Accepted : 2009.12.07
  • Published : 2010.12.01
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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.

저자들은 유전자 검사로 확진된 유전성 항트롬빈 결핍증을 가진 39세 남자 환자에서 만성 폐혈전색전성 폐동맥고혈압이 발생하여 혈전내막제거술을 시행한 증례를 국내 최초로 보고하는 바이다. 환자는 내원 시 NYHA class III의 심한 호흡곤란을 보였다. 검사 결과 환자는 폐혈전색전증 및 우심실 부전을 동반한 심한 폐동맥 고혈압을 가진 것으로 진단되었다. 유전자 검사로 SERPINC1 유전자에 새로운 돌연변이가 있는 것이 확인되었다. 환자는 하대정맥 필터 삽입과 폐동맥 혈전내막제거술을 받았다. 이후 1년의 경과관찰 동안 환자는 NYHA class I의 상태를 유지하였고, 우심실 기능의 정상화를 보여주었다.

Keywords

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