ABC | Volume 113, Nº5, November 2019

Review Article Fernandes et al. Deposit diseases and ventricular hypertrophy Arq Bras Cardiol. 2019; 113(5):979-987 26. Martinez-NaharroA, TreibelTA , Abdel-GadirA, BulluckH, ZumboG, Knight DS, et al. Magnetic resonance in transthyretin cardiac amyloidosis. J AmColl Cardiol. 2017;70(4):466-77. 27. Desnick RJ, Joannou YA, Eng CM. Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D(eds). The metabolic bases of inherited disease. 8 th ed. New York:Mac Graw-Hill;2001.p.3733-74. 28. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122-38. 29. Bishop DF, Kornreich R, Desnick RJ. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3’ untranslated region. Proc Natl Acad Sci USA. 1988;85(11):3903-7. 30. Mehta A, Ricci R,Widmer U, Dehout F , Garcia de Lorenzo A , Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236-42. 31. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP , Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-46. 32. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108(11):1299-301. 33. Spinelli L, Pisani A, M Sabbatini, Petretta M, Andreucci MV, Procaccini D, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry’s disease. Clin Genet. 2004;66(2):158-65. 34. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late-onset hypertrophic cardiomyopathy. Circulation. 2002;105(12):1407-11. 35. Morita H, Larson MG, Barr SC, Vasan RS, O’Donnell CJ, Hirschhorn JN, et al. Monogenic mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006;113(23):2697-705. 36. Ommen SR, Nishimura RA, Edwards WD. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart. 2003;89(8):929-30. 37. Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudová J, Karetová D, et al . New insights in cardiac structural changes in patients with Fabry’s disease. Am Heart J. 2000;139(6):1101–8. 38. O’Mahony C, Elliott P. Anderson-Fabry disease and the heart. Prog Cardiovasc Dis. 2010;52(4):326-35. 39. Kampmann C, Linhart A, Baehner F, Palecek T , Wiethoff CM, Miebach E, et al. Start and progression of Anderson-Fabry disease-related cardiomyopathy. Int J Cardiol. 2008;130(3):367-73. 40. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and disease impact in a cohort of 98 hemizygous males. J Med Genet. 2001;38(11):750-60. 41. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and disease impact in a cohort of 60 obligated female patients. J Med Genet. 2001;38(11):769-75. 42. Niemann M, Breunig F, Beer M, Herrmann S, Strotmann J, Hu K, Emmert A, et al. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. Heart. 2010;96(23):1915-9. 43. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, et al. Cardiovascular manifestations of Fabry’s disease: relationships between left ventricular hypertrophy, disease severity and alpha-galactosidase A activity. Eur Heart J. 2010;31(9):1088-97. 44. Pieroni M, C Chimenti, De Cobelli F, Morgante E, Del Maschio A , Gaudio C, et al. Fabry disease cardiomyopathy: echocardiographic detection of endomyocardialglycosphingolipidcompartmentalization. JAmCollCardiol. 2006;47(8):1663-71. 45. 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. 46. Zamorano J, Serra V, Pérez de Isla L, Feltes G, Calli A, Barbado FJ, et al. Usefulness of tissueDoppler in the early detection of heart disease in patients withFabryandpossibleroleofenzymereplacementtherapy (ERT)toprevent the progression of the disease. Eur J Echocardiogr. 2011;12(9):671-7. 47. Pieroni M, Chimenti C, Ricci R, Sale P , Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003;107(15):1978-84. 48. KounasS,DemetrescuC,PantazisAA ,KerenA , LeePJ, HughesD, etal.Thebinary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familialhypertrophiccardiomyopathy.JAmCollCardiol.2008;51(21):2058-61. 49. Krämer J, Niemann M, Liu D, Hu K, Machann W, Beer M, et al. Two- dimensional speckle tracking as a non-invasive tool of identification of myocardial fibrosis in Fabry disease. Eur Heart J. 2013;34(21):1587-96. 50. Moon JC, SheppardM, Reed E, Lee P, Elliot PM, Pennell DJ. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson. 2006;8(3):479-82. 51. 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(3):W97-102. 52. Moon JC, Sachdev B, Elkington AG , McKenna WJ, Mehta A, Pennell DJ, et al. Gadoliniumenhanced cardiovascular magnetic resonance in Anderson- Fabry disease. Evidence for a disease specific abnormality of themyocardial interstitium. Eur Heart J. 2003;24(23):2151-5. 53. NiemannM,HermannS,HuK, BreunigF , StrotmannJ , BeerM ,etal.Differences inFabrycardiomyopathybetweenfemaleandmalepatients:consequencesfor the diagnostic assessment. JACCCardiovasc Imaging. 2011;4(6):592-601. 54. Weidemann F, Strotmann JM, Niemann M, Herrmann S, Wilke M , Beer M, et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol. 2009;35(5):730-5. 55. Chimenti C, Morgante E, Tanzilli G, Mangieri E , Critelli G, Gaudio C, et al. Angina in Fabry disease reflects coronary small vessel disease. Circ Heart Fail. 2008;1(3):161-9. 56. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D , Lee P , et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005;96(6):842-6. 57. IkariY,KuwakoK,YamaguchiT.Fabry’sdiseasewithcompleteatrioventricular block: histological evidence of involvement of the conduction system. Br Heart J. 1992;68(3):323-5. 58. Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry’s disease. Am Heart J. 1977;93(6):699-705. 59. Pochis WT, Litzow JT, King BG, Kenny D. Electrophysiological findings in Fabry’s disease with a short PR interval. Am J Cardiol. 1994;74(2):203-4. 60. Blum A, Ashkenazi H, Haromankov I, Khazim K, Sheiman J. First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry’s disease. South Med J. 2003;96(2):212-3. 61. Chamoles NA, BlancoM, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308(1-2):195-6. 62. Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol. 2002;13(2):S130-3. 63. Germain DP. Fabry disease. Clinical and genetic aspects. Therapeutic perspectives. Rev Med Interne. 2000;21(12):1086-103. 986