ABC | Volume 113, Nº1, July 2019

Original Article Chaves-Markman et al A novel mutation in Fabry disease Arq Bras Cardiol. 2019; 113(1):77-84 18. SteedsRP,GarbiM,CardimN,Kasprzak JD,SadeE,NihoyannopoulosP,etal. EACVI appropriateness criteria for the use of transthoracic echocardiography in adults: a report of literature and current practice review. Eur Heart J Cardiovasc Imaging. 2017;18(11):1191-204. 19. Sara L, Szarf G, Tachibana A, Shiozaki AA, Villa AV, Oliveira AC, et al. II Diretriz de Ressonância Magnética e Tomografia Computadorizada Cardiovascular da Sociedade Brasileira de Cardiologia e do Colégio Brasileiro de Radiologia. Arq Bras Cardiol. 2014;103(6 supl 3):1-86. 20. Pinto LL, Vieira TA, Giugliani R, Schwartz IV. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis. 2010 May 28;5:14. 21. Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012;379(9813):335-41. 22. Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009;30(10):1397-405. 23. Hagege AA, Caudron E, Damy T, Roudaut R, Millaire A, Etchecopar- Chevreuil C, et al. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study. Heart. 2011;97(2):131-6. 24. Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García- Honrubia A, Pérez I, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50(25):2399-403. 25. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110(9):1047-53. 26. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105(12):1407-11. 27. Koskenvuo JW, Engblom E, Kantola IM, Hartiala JJ, Saraste A, Kiviniemi TO, et al. Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance. Clin Physiol Funct Imaging. 2009;29(3):177-80. 28. Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study. J Cardiol. 2008;51(1):50-9. 29. Yousef Z, Elliott PM, Cecchi F, Escoubet B, Linhart A, Monserrat L, et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013;34(11):802-8. 30. 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(5):1157-61. 31. De Francesco PN, Mucci JM, Ceci R, Fossati CA, Rozenfeld PA. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab. 2013;109(1):93-9. 32. Seydelmann N, Wanner C, Störk S, Ertl G, Weidemann F. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab. 2015;29(2):195‑204. 33. Biancini GB, Vanzin CS, Rodrigues DB, Deon M, Ribas GS, Barschak AG, et al. Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. Biochim Biophys Acta. 2012;1822(2):226-32. 34. SpadaM, Pagliardini S, YasudaM, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J HumGenet. 2006;79(1):31-40. 35. Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, et al. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. Mol Genet Metab. 2015;114(2):248-58. 36. Lenders M, Duning T, Schelleckes M, Schmitz B, Stander S, Rolfs A, et al. Multifocal white matter lesions associated with the D313Y mutation of the α -Galactosidase A gene. PLoS One. 2013;8(2):e55565. 37. Niemann M, Rolfs A, Giese A, Mascher H, Breunig F, Ertl G, et al. Lyso-Gb3 indicates that the Alpha-Galactosidase A Mutation D313Y is not clinically relevant for Fabry disease. JIMD Rep. 2013;7:99-102. 38. Kampmann C, Perrin A, Beck M. Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis. 2015 Sep 29;10:125. 39. Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European FabryWorking Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36. 40. Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, et al. Treatment of Fabry’s disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016;375(6):545-55. 83