Page 79 - Read Online

Aguiar. Rare Dis Orphan Drugs J 2024;3:13 https://dx.doi.org/10.20517/rdodj.2023.56 Page 23 of 29

919G>A). Orphanet J Rare Dis 2014;9:111. DOI PubMed PMC
74. Arends M, Biegstraaten M, Hughes DA, et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry
disease: analysis of prognostic factors. PLoS One 2017;12:e0182379. DOI PubMed PMC
75. Bichet DG, Aerts JM, Auray-Blais C, et al. Assessment of plasma lyso-Gb for clinical monitoring of treatment response in
3
migalastat-treated patients with Fabry disease. Genet Med 2021;23:192-201. DOI PubMed PMC
76. Nowak A, Beuschlein F, Sivasubramaniam V, Kasper D, Warnock DG. Lyso-Gb3 associates with adverse long-term outcome in
patients with Fabry disease. J Med Genet 2022;59:287-93. DOI PubMed PMC
77. Jenab Y, Pourjafari M, Darabi F, Boroumand MA, Zoroufian A, Jalali A. Prevalence and determinants of elevated high-sensitivity
cardiac troponin T in hypertrophic cardiomyopathy. J Cardiol 2014;63:140-4. DOI PubMed
78. Sato Y, Fujiwara H, Takatsu Y. Cardiac troponin and heart failure in the era of high-sensitivity assays. J Cardiol 2012;60:160-7.
DOI PubMed
79. Feustel A, Hahn A, Schneider C, et al. Continuous cardiac troponin I release in Fabry disease. PLoS One 2014;9:e91757. DOI
PubMed PMC
80. Tanislav C, Guenduez D, Liebetrau C, et al. Cardiac troponin I: a valuable biomarker indicating the cardiac involvement in Fabry
disease. PLoS One 2016;11:e0157640. DOI PubMed PMC
81. Seydelmann N, Liu D, Krämer J, et al. High-sensitivity troponin: a clinical blood biomarker for staging cardiomyopathy in Fabry
disease. J Am Heart Assoc 2016;5:e002839. DOI PubMed PMC
82. 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;126:169-82. DOI
PubMed
83. Nordin S, Kozor R, Medina-Menacho K, et al. Proposed stages of myocardial phenotype development in Fabry disease. JACC
Cardiovasc Imaging 2019;12:1673-83. DOI
84. Nordin S, Kozor R, Baig S, et al. Cardiac phenotype of prehypertrophic Fabry disease. Circ Cardiovasc Imaging 2018;11:e007168.
DOI PubMed PMC
85. Nordin S, Kozor R, Bulluck H, et al. Cardiac Fabry disease with late gadolinium enhancement is a chronic inflammatory
cardiomyopathy. J Am Coll Cardiol 2016;68:1707-8. DOI
86. Augusto JB, Nordin S, Vijapurapu R, et al. Myocardial edema, myocyte injury, and disease severity in Fabry disease. Circ
Cardiovasc Imaging 2020;13:e010171. DOI
87. Nordin S, Kozor R, Vijapurapu R, et al. Myocardial storage, inflammation, and cardiac phenotype in Fabry disease after one year of
enzyme replacement therapy. Circ Cardiovasc Imaging 2019;12:e009430. DOI PubMed PMC
88. Camporeale A, Bandera F, Pieroni M, et al. Effect of migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study. J Med
Genet 2023;60:850-8. DOI
89. Berger R, Huelsman M, Strecker K, et al. B-type natriuretic peptide predicts sudden death in patients with chronic heart failure.
Circulation 2002;105:2392-7. DOI
90. Maisel AS, Krishnaswamy P, Nowak RM, et al. Rapid measurement of B-type natriuretic peptide in the emergency diagnosis of heart
failure. N Engl J Med 2002;347:161-7. DOI PubMed
91. Coats CJ, Parisi V, Ramos M, et al. Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac
involvement in patients with Anderson-Fabry disease. Am J Cardiol 2013;111:111-7. DOI
92. Torralba-Cabeza MÁ, Olivera S, Hughes DA, Pastores GM, Mateo RN, Pérez-Calvo JI. Cystatin C and NT-proBNP as prognostic
biomarkers in Fabry disease. Mol Genet Metab 2011;104:301-7. DOI PubMed
93. Liu D, Oder D, Salinger T, et al. Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with
Fabry disease. Open Heart 2018;5:e000803. DOI PubMed PMC
94. Bass JL, Shrivastava S, Grabowski GA, Desnick RJ, Moller JH. The M-mode echocardiogram in Fabry’s disease. Am Heart J
1980;100:807-12. DOI PubMed
95. Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's
disease. J Am Coll Cardiol 1986;7:1157-61. DOI PubMed
96. Meucci MC, Lillo R, Del Franco A, et al. Prognostic implications of the extent of cardiac damage in patients with Fabry disease. J
Am Coll Cardiol 2023;82:1524-34. DOI
97. Costanzo L, Buccheri S, Capranzano P, et al. Early cardiovascular remodelling in Fabry disease. J Inherit Metab Dis 2014;37:109-16.
DOI
98. Fiuza M, Avó LB, Oliveira EI, Gonçalves S, Lopes MG. Detection of preclinical left ventricular dysfunction in Fabry disease: the
contribution of tissue Doppler. Rev Port Cardiol 2006;25:613-37. PubMed
99. Palecek T, Linhart A, Lubanda JC, et al. Early diastolic mitral annular velocity and color M-mode flow propagation velocity in the
evaluation of left ventricular diastolic function in patients with Fabry disease. Heart Vessels 2006;21:13-9. DOI
100. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Circulation 2003;107:1978-84. DOI PubMed
101. Toro R, Perez-Isla L, Doxastaquis G, et al. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry
cardiomyopathy. Int J Cardiol 2009;132:38-44. DOI
102. Zamorano J, Serra V, Pérez de Isla L, et al. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and