Fabry disease: A fundamental genetic modifier of cardiac function

Zarate, 2008, Fabry's disease, Lancet, 372, 1427, 10.1016/S0140-6736(08)61589-5 Nagueh, 2014, Anderson-Fabry disease and other lysosomal storage disorders, Circulation, 130, 1081, 10.1161/CIRCULATIONAHA.114.009789 Patel, 2011, Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry, J Am Coll Cardiol, 57, 1093, 10.1016/j.jacc.2010.11.018 Lin, 2009, High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population, Circ Cardiovasc Genet, 2, 450, 10.1161/CIRCGENETICS.109.862920 von Scheidt, 1991, An atypical variant of Fabry's disease with manifestations confined to the myocardium, N Engl J Med, 324, 395, 10.1056/NEJM199102073240607 Linhart, 2000, New insights in cardiac structural changes in patients with Fabry's disease, Am Heart J, 139, 1101, 10.1067/mhj.2000.105105 Kampmann, 2002, Cardiac manifestations of Anderson-Fabry disease in heterozygous females, J Am Coll Cardiol, 40, 1668, 10.1016/S0735-1097(02)02380-X Kampmann, 2008, Onset and progression of the Anderson-Fabry disease related cardiomyopathy, Int J Cardiol, 130, 367, 10.1016/j.ijcard.2008.03.007 Kozor, 2016, Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR, Heart, 10.1136/heartjnl-2015-308494 Elleder, 1990, Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy, Virchows Arch A Pathol Anat Histopathol, 417, 449, 10.1007/BF01606034 Shah, 2005, The natural history of left ventricular systolic function in Anderson-Fabry disease, Heart, 91, 533, 10.1136/hrt.2004.035584 Nakao, 1995, An atypical variant of Fabry's disease in men with left ventricular hypertrophy, N Engl J Med, 333, 288, 10.1056/NEJM199508033330504 Sachdev, 2002, Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy, Circulation, 105, 1407, 10.1161/01.CIR.0000012626.81324.38 Chimenti, 2004, Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy, Circulation, 110, 1047, 10.1161/01.CIR.0000139847.74101.03 Arad, 2005, Glycogen storage diseases presenting as hypertrophic cardiomyopathy, N Engl J Med, 352, 362, 10.1056/NEJMoa033349 Monserrat, 2007, Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy, J Am Coll Cardiol, 50, 2399, 10.1016/j.jacc.2007.06.062 Havndrup, 2010, Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women, Eur J Heart Fail, 12, 535, 10.1093/eurjhf/hfq073 Elliott, 2011, Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey, Heart, 97, 1957, 10.1136/heartjnl-2011-300364 Terryn, 2013, Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy, Int J Cardiol, 167, 2555, 10.1016/j.ijcard.2012.06.069 Palecek, 2014, Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS), J Inherit Metab Dis, 37, 455, 10.1007/s10545-013-9659-2 Baptista, 2015, Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation, Arq Bras Cardiol, 105, 139 Seo, 2016, Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis, J Hum Genet, 10.1038/jhg.2016.52 Chimenti, 2010, Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation, Heart, 96, 1782, 10.1136/hrt.2010.196162 Frustaci, 2007, Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue, Circulation, 116, e350, 10.1161/CIRCULATIONAHA.107.723387 Namdar, 2011, Electrocardiographic changes in early recognition of Fabry disease, Heart, 97, 485, 10.1136/hrt.2010.211789 O’Mahony, 2011, Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease, Europace, 13, 1781, 10.1093/europace/eur267 Linhart, 2007, Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey, Eur Heart J, 28, 1228, 10.1093/eurheartj/ehm153 Shah, 2005, Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease, Am J Cardiol, 96, 842, 10.1016/j.amjcard.2005.05.033 Frustaci, 2001, Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy, N Engl J Med, 345, 25, 10.1056/NEJM200107053450104 Elliott, 2006, Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A, Heart, 92, 357, 10.1136/hrt.2004.054015 Kalliokoski, 2006, The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease, J Inherit Metab Dis, 29, 112, 10.1007/s10545-006-0221-3 Tanislav, 2011, Persistent increase in cardiac troponin I in Fabry disease: a case report, BMC Cardiovasc Disord, 11, 6, 10.1186/1471-2261-11-6 Feustel, 2014, Continuous cardiac troponin I release in Fabry disease, Plos One, 9, e91757, 10.1371/journal.pone.0091757 Chimenti, 2008, Angina in Fabry disease reflects coronary small vessel disease, Circ Heart Fail, 1, 161, 10.1161/CIRCHEARTFAILURE.108.769729 Chimenti, 2015, Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy, Hum Pathol, 46, 1760, 10.1016/j.humpath.2015.07.017 Frustaci, 2014, Microvascular angina as prehypertrophic presentation of Fabry disease cardiomyopathy, Circulation, 130, 1530, 10.1161/CIRCULATIONAHA.114.012178 Havranek, 2013, Early cardiac changes in children with Anderson-Fabry disease, JIMD Rep, 11, 53, 10.1007/8904_2013_222 Barbey, 2010, Aortic remodelling in Fabry disease, Eur Heart J, 31, 347, 10.1093/eurheartj/ehp426 Dormond, 2013, Thoracic aortic dilation/aneurysm in Fabry disease, Am J Med, 126, e23, 10.1016/j.amjmed.2013.07.029 Fernandez, 2012, Cardiac surgery in patients with Fabry's disease: review of literature, J Card Surg, 27, 478, 10.1111/j.1540-8191.2012.01459.x Karras, 2008, Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era, Am J Transplant, 8, 1345, 10.1111/j.1600-6143.2008.02245.x Desnick, 1976, Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies, Circulation, 54, 818, 10.1161/01.CIR.54.5.818 Bangari, 2015, Alpha-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease, Am J Pathol, 185, 651, 10.1016/j.ajpath.2014.11.004 Meng, 2016, Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice, J Inherit Metab Dis, 39, 447, 10.1007/s10545-016-9920-6 Lee, 2003, A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease, Glycobiology, 13, 305, 10.1093/glycob/cwg034 Eng, 2001, Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease, N Engl J Med, 345, 9, 10.1056/NEJM200107053450102 Banikazemi, 2007, Agalsidase-beta therapy for advanced Fabry disease: a randomized trial, Ann Intern Med, 146, 77, 10.7326/0003-4819-146-2-200701160-00148 Germain, 2015, Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease, J Med Genet, 52, 353, 10.1136/jmedgenet-2014-102797 Schiffmann, 2001, Enzyme replacement therapy in Fabry disease: a randomized controlled trial, JAMA, 285, 2743, 10.1001/jama.285.21.2743 Hughes, 2008, Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa, Heart, 94, 153, 10.1136/hrt.2006.104026 Beck, 2015, Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry Outcome Survey analysis, Mol Genet Metab Rep, 3, 21, 10.1016/j.ymgmr.2015.02.002 Rombach, 2013, Long-term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain, Orphanet J Rare Dis, 8, 47, 10.1186/1750-1172-8-47 Tsuboi, 2012, Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal), Genet Med, 14, 779, 10.1038/gim.2012.39 Schmied, 2016, The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy, Heart, 10.1136/heartjnl-2015-308897 Takenaka, 1999, Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease, Hum Gene Ther, 10, 1931, 10.1089/10430349950017293 Ziegler, 1999, Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer, Hum Gene Ther, 10, 1667, 10.1089/10430349950017671 Jung, 2001, Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice, Proc Natl Acad Sci U S A, 98, 2676, 10.1073/pnas.051634498 Ziegler, 2007, Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A, Mol Ther, 15, 492, 10.1038/sj.mt.6300066 Choi, 2010, Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer, J Biomed Sci, 17, 26, 10.1186/1423-0127-17-26 Basner-Tschakarjan, 2014, Pre-clinical assessment of immune responses to adeno-associated virus (AAV) vectors, Front Immunol, 5, 28, 10.3389/fimmu.2014.00028 Clement, 2016, Manufacturing of recombinant adeno-associated viral vectors for clinical trials, Mol Ther Methods Clin Dev, 3, 16002, 10.1038/mtm.2016.2