Acknowledgement
We are pleased to acknowledge Ms. Inseon Park who illustrated Fig. 1.
References
- El-Abassi R, Singhal D, England JD. Fabry's disease. J Neurol Sci 2014;344:5-19 https://doi.org/10.1016/j.jns.2014.06.029
- Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-1435 https://doi.org/10.1016/S0140-6736(08)61589-5
- 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 https://doi.org/10.1067/mhj.2000.105105
- 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 https://doi.org/10.1093/ndt/gfp031
- Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007;93:528-535 https://doi.org/10.1136/hrt.2005.063818
- Serra W, Marziliano N. Role of cardiac imaging in Anderson-Fabry cardiomyopathy. Cardiovasc Ultrasound 2019;17:1
- 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
- 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 https://doi.org/10.1161/CIRCIMAGING.113.000482
- 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 https://doi.org/10.1148/radiol.2018172613
- 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 https://doi.org/10.1093/eurheartj/ehp588
- 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 https://doi.org/10.1007/s10545-014-9677-8
- 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 https://doi.org/10.1007/s11547-011-0710-9
- 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
- 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 https://doi.org/10.2147/DDDT.S102761
- 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 https://doi.org/10.1016/j.amjcard.2005.11.087
- 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 https://doi.org/10.1016/j.jacc.2016.07.741
- 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 https://doi.org/10.1016/j.ehj.2003.09.017
- 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
- 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 https://doi.org/10.2214/AJR.08.1201
- 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 https://doi.org/10.1016/j.ymgme.2018.11.005
- 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 https://doi.org/10.1007/s00259-015-3036-3
- 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 https://doi.org/10.1016/j.jcmg.2018.03.020
- 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 https://doi.org/10.1055/a-0836-2723
- 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 https://doi.org/10.3348/kjr.2017.18.1.113
- 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 https://doi.org/10.1161/CIRCIMAGING.112.000070
- 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
- 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
- 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
- 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 https://doi.org/10.1111/joim.12077
- 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 https://doi.org/10.1007/s10554-018-1320-6
- 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
- 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 https://doi.org/10.1148/radiol.14131980
- 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 https://doi.org/10.1007/s10545-005-0563-2
- 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 https://doi.org/10.1136/hrt.2004.054015
- 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
- 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 https://doi.org/10.1161/CIRCIMAGING.112.973560