ABC | Volume 113, Nº5, Novembro 2019

Artigo de Revisão Fernandes et al Doenças de depósito e hipertrofia ventricular Arq Bras Cardiol. 2019; 113(5):979-987 Este é um artigo de acesso aberto distribuído sob os termos da licença de atribuição pelo Creative Commons 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. Kounas S, Demetrescu C, Pantazis AA, Keren A, Lee PJ, Hughes D, et al. The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol. 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. 64. LinhartA, KampmannC, Zamorano JL , Sunder-PlassmannG, BeckM, Mehta A, et al.; European FOS Investigators. Cardiac manifestations of Anderson- Fabry disease: results from the international Fabry outcome survey . Eur Heart J. 2007;28(10):1228-35. 65. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized study. Ann Intern Med. 2007;146(2):77-86. 66. El Dib RP, Birth P, GM Shepherds. Enzyme replacement therapy for Anderson-Fabrydisease.CochraneDatabaseSystRev.2013;(2):CD006663. 67. Imbriaco M, Pisani A, Spinelli L, Cuocolo A, Messalli G, Capuano E, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance study. Heart. 2009;95(13):1103-7. 68. Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C, et al. Long-term results of enzyme-replacement therapy in advanced Fabry disease: evidence of disease progression towards severe complications. J Intern Med. 2013;274(4):331-41. 69. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, et al. Improvement of cardiac function in the heart variant of Fabry’s disease with galactose infusion therapy. N Engl J Med. 2001;345(1):25-32. 70. Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, et al. Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med. 2010;12(7):413-23. 71. Sugie K, Komaki H, Eura N, Shiota T, Onoue K, TsukaguchiH, et al. A Nationwide Survey on Danon Disease in Japan. Int J Mol Sci. 2018;19(11):3507. 72. vanderSteldLP,CampuzanoO,Pérez-SerraA,MouradeBarrosZamoranoM, SousaMatosS,BrugadaR. Wolff-Parkinson-Whitesyndromewithventricular hypertrophy in a Brazilian Family . Am J Case Rep. 2017 Jul;18:766–76. 987