대한영상의학회지 (Journal of the Korean Society of Radiology)

  • 제81권2호
  • /
  • Pages.302-309
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  • 2020
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  • 1738-2637(pISSN)
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  • 2288-2928(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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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.

참고문헌

  1. El-Abassi R, Singhal D, England JD. Fabry's disease. J Neurol Sci 2014;344:5-19
  2. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-1435
  3. Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudova J, Karetova D, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000;139:1101-1108
  4. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-2111
  5. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007;93:528-535
  6. Serra W, Marziliano N. Role of cardiac imaging in Anderson-Fabry cardiomyopathy. Cardiovasc Ultrasound 2019;17:1
  7. Messroghli DR, Moon JC, Ferreira VM, Grosse-Wortmann L, He T, Kellman P, et al. Clinical recommendations for cardiovascular magnetic resonance mapping of T1, T2, T2* and extracellular volume: a consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI). J Cardiovasc Magn Reson 2017;19:75
  8. Thompson RB, Chow K, Khan A, Chan A, Shanks M, Paterson I, et al. T1 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging 2013;6:637-645
  9. Karur GR, Robison S, Iwanochko RM, Morel CF, Crean AM, Thavendiranathan P, et al. Use of myocardial T1 mapping at 3.0 T to differentiate Anderson-Fabry disease from hypertrophic cardiomyopathy. Radiology 2018;288:398-406
  10. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, et al. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J 2010;31:1088-1097
  11. Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014;37:341-352
  12. Messalli G, Imbriaco M, Avitabile G, Russo R, Iodice D, Spinelli L, et al. Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy. Radiol Med 2012;117:19-28
  13. Lin HY, Liu HC, Huang YH, Liao HC, Hsu TR, Shen CI, et al. Effects of enzyme replacement therapy for cardiactype Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). BMJ Open 2013;3:e003146
  14. Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, et al. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naive to enzyme replacement therapy. Drug Des Devel Ther 2016;10:1771-1781
  15. Beer M, Weidemann F, Breunig F, Knoll A, Koeppe S, Machann W, et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 2006;97:1515-1518
  16. Nordin S, Kozor R, Bulluck H, Castelletti S, Rosmini S, Abdel-Gadir A, et al. Cardiac Fabry disease with late gadolinium enhancement is a chronic inflammatory cardiomyopathy. J Am Coll Cardiol 2016;68:1707-1708
  17. Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24:2151-2155
  18. Deva DP, Hanneman K, Li Q, Ng MY, Wasim S, Morel C, et al. Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease. J Cardiovasc Magn Reson 2016;18:14
  19. De Cobelli F, Esposito A, Belloni E, Pieroni M, Perseghin G, Chimenti C, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 2009;192:W97-W102
  20. Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab 2019;126:169-182
  21. Nappi C, Altiero M, Imbriaco M, Nicolai E, Giudice CA, Aiello M, et al. First experience of simultaneous PET/ MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease. Eur J Nucl Med Mol Imaging 2015;42:1025-1031
  22. Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, et al. Proposed stages of myocardial phenotype development in Fabry disease. JACC Cardiovasc Imaging 2019;12:1673-1683
  23. Roller FC, Fuest S, Meyer M, Harth S, Gunduz D, Bauer P, et al. Assessment of cardiac involvement in Fabry disease (FD) with native T1 mapping. Rofo 2019;191:932-939
  24. Kim PK, Hong YJ, Im DJ, Suh YJ, Park CH, Kim JY, et al. Myocardial T1 and T2 mapping: techniques and clinical applications. Korean J Radiol 2017;18:113-131
  25. Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, et al. Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 2013;6:392-398
  26. Pica S, Sado DM, Maestrini V, Fontana M, White SK, Treibel T, et al. Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2014;16:99
  27. Pagano JJ, Chow K, Khan A, Michelakis E, Paterson I, Oudit GY, et al. Reduced right ventricular native myocardial T1 in Anderson-Fabry disease: comparison to pulmonary hypertension and healthy controls. PLoS One 2016;11:e0157565
  28. Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, et al. Predictors of clinical evolution in prehypertrophic Fabry disease. Circ Cardiovasc Imaging 2019;12:e008424
  29. Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 2013;274:331-341
  30. Nordin S, Dancy L, Moon JC, Sado DM. Clinical applications of multiparametric CMR in left ventricular hypertrophy. Int J Cardiovasc Imaging 2018;34:577-585
  31. Bohnen S, Radunski UK, Lund GK, Kandolf R, Stehning C, Schnackenburg B, et al. Performance of t1 and t2 mapping cardiovascular magnetic resonance to detect active myocarditis in patients with recent-onset heart failure. Circ Cardiovasc Imaging 2015;8:e003073
  32. McAlindon EJ, Pufulete M, Harris JM, Lawton CB, Moon JC, Manghat N, et al. Measurement of myocardium at risk with cardiovascular MR: comparison of techniques for edema imaging. Radiology 2015;275:61-70
  33. Kalliokoski RJ, Kalliokoski KK, Sundell J, Engblom E, Penttinen M, Kantola I, et al. Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease. J Inherit Metab Dis 2005;28:563-573
  34. Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R, et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 2006;92:357-360
  35. Kawel-Boehm N, Maceira A, Valsangiacomo-Buechel ER, Vogel-Claussen J, Turkbey EB, Williams R, et al. Normal values for cardiovascular magnetic resonance in adults and children. J Cardiovasc Magn Reson 2015;17:29
  36. Kawel N, Turkbey EB, Carr JJ, Eng J, Gomes AS, Hundley WG, et al. Normal left ventricular myocardial thickness for middle-aged and older subjects with steady-state free precession cardiac magnetic resonance: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging 2012;5:500-508