Mohamed El Sayed

135 Echocardiographic changes in Fabry disease References 1. Brady, R.O., et al., Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Engl J Med, 1967. 276(21): p. 1163-7. 2. Kint, J.A., Fabry’s disease: alpha-galactosidase deficiency. Science, 1970. 167(3922): p.12689. 3. Mehta, A., et al., Natural course of Fabry disease: changing pattern of causes of death in FOS- Fabry Outcome Survey. J Med Genet, 2009. 46(8): p. 548-52. 4. Mehta, A., et al., Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest, 2004. 34(3): p. 236-42. 5. Smid, B.E., et al., Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet, 2015. 52(4): p. 262-8. 6. Arends, M., et al., Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol, 2017. 28(5): p. 1631-1641. 7. Smid, B.E., et al., Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol, 2014. 177(2): p. 400-8. 8. El Sayed, M., et al., Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease. Heart, 2021. 9. Rombach, S.M., et al., Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis, 2013. 8: p. 47. 10. van der Veen, S.J., et al., Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression. Mol Genet Metab, 2022. 135(2): p. 163-169. 11. van der Veen, S.J., et al., Developments in the treatment of Fabry disease. J Inherit Metab Dis, 2020. 43(5): p. 908-921. 12. Spinelli, L., et al., Left ventricular radial strain impairment precedes hypertrophy in Anderson-Fabry disease. Int J Cardiovasc Imaging, 2020. 36(8): p. 1465-1476. 13. Perry, R., et al., The Role of Cardiac Imaging in the Diagnosis and Management of AndersonFabry Disease. JACC: Cardiovascular Imaging, 2019. 12(7, Part 1): p. 1230-1242. 14. Augusto, J.B., et al., The myocardial phenotype of Fabry disease pre-hypertrophy and predetectable storage. Eur Heart J Cardiovasc Imaging, 2020. 15. Nordin, S., et al., Proposed Stages of Myocardial Phenotype Development in Fabry Disease. JACC Cardiovasc Imaging, 2018. 16. Boyd, A.C., et al., Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy. J Am Soc Echocardiogr, 2013. 26(12): p. 1415-23. 17. Wu, J.C., et al., Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J, 2010. 31(9): p. 1088-97. 18. Spinelli, L., et al., Does left ventricular function predict cardiac outcome in Anderson-Fabry disease? Int J Cardiovasc Imaging, 2021. 37(4): p. 1225-1236. 4

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