대한영상의학회지 (Journal of the Korean Society of Radiology)

  • 제81권2호
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  • Pages.302-309
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  • 2020
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  • 1738-2637(pISSN)
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  • 2951-0805(eISSN)
대한영상의학회 (The Korean Society of Radiology)
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파브리병에서의 심장 자기공명영상의 역할

The Role of Cardiac MRI in the Diagnosis of Fabry Disease

  • 홍유진 (연세대학교 의과대학 세브란스병원 영상의학과) ;
  • 김영진 (연세대학교 의과대학 세브란스병원 영상의학과)
  • Yoo Jin Hong (Department of Radiology, Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine) ;
  • Young Jin Kim (Department of Radiology, Research Institute of Radiological Science, Severance Hospital, Yonsei University College of Medicine)
  • 투고 : 2019.11.29
  • 심사 : 2020.03.24
  • 발행 : 2020.03.01
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⟨ 이전 논문 다음 논문 ⟩

초록

파브리병(Fabry disease)은 매우 드문 X-연관 유전 대사 질환으로 알파 갈락토시다아제(alpha galactosidase A)의 결핍으로 인하여 다양한 세포 및 기관에 글리코스핑고지질(glycosphingolipid)의 축적을 초래하는 질환이다. 심장 침범이 비교적 흔하며 비정상적인 지질침착으로 인한 심근 염증, 좌심실 비대 및 심근 섬유증을 일으킨다. 심장 침범은 환자 예후를 결정하는 중요한 요인이므로 이를 진단하는 것은 매우 중요하다. 심장 자기공명영상은 심실의 기능, 부피 측정을 위한 표준기법으로 알려져 있으며 심근의 조직 변화를 볼 수 있는 유용한 기법이다. 특히 최근 많이 쓰이는 T1 지도화 기법을 통한 심근 조영 전 T1 수치를 이용하여 파브리병의 심장 침범을 조기 진단할 수 있으며 자기공명영상을 이용한 심근 질량 측정으로 치료 모니터링을 할 수 있다. 심장 자기공명영상은 파브리병 환자에서 다양한 역할을 할 수 있을 것으로 생각되며 이에 대해 정리해보고자 한다.

Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A. Cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. Hence, the diagnosis of cardiac involvement is crucial for evaluating patient prognosis. Cardiac MRI is the standard technique for measuring the function, volume, and mass of the ventricles. It is also useful for myocardial tissue characterizations. The evaluation of native myocardial T1 values can facilitate early diagnosis of cardiac involvement, while measurements of left ventricular myocardial mass can be used to monitor treatment outcomes, in patients with Fabry disease. Consequently, cardiac MRI can provide useful information for diagnosing, monitoring, and treating patients with Fabry disease.

키워드

과제정보

We are pleased to acknowledge Ms. Inseon Park who illustrated Fig. 1.

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