Erratum to vol 52, no. 4, Jan/Feb 2010 (DOI:10.1016/j.pcad.2009.11.002);Anderson-Fabry Disease and the Heart

Progress in Cardiovascular Diseases

Volumn 52, Issue 4, 2010, Pages 326-335

  O'Mahony, Constantinos ^a   Elliott, Perry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Anderson Fabry disease; Arrhythmias; Cardiac hypertrophy; Enzyme replacement therapy

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; AMIODARONE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; CHAPERONE; GLOBOTRIAOSYLCERAMIDE; OSTEOCALCIN; PLACEBO; SOTALOL;

ANGINA PECTORIS; ARTICLE; CARDIOMYOPATHY; CLINICAL FEATURE; CLINICAL TRIAL; CORONARY ARTERY DISEASE; DISEASE CARRIER; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HEART DISEASE; HEART ELECTROPHYSIOLOGY; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; SEX DIFFERENCE; VALVULAR HEART DISEASE;

EID: 73149122378     PISSN: 00330620     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pcad.2010.02.007     Document Type: Erratum

References (90)

1. Linhart A., and Elliott P.M. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93 (2007) 528-535
2. Zarate Y.A., and Hopkin R.J. Fabry's disease. Lancet 372 (2008) 1427-1435
3. Schafer E., Baron K., Widmer U., et al. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat 25 (2005) 412
4. Schaefer E., Mehta A., and Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 94 (2005) 87-92
5. Garman S.C., and Garboczi D.N. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337 (2004) 319-335
6. Mehta A., Ricci R., Widmer U., et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
7. Maier E.M., Osterrieder S., Whybra C., et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl 95 (2006) 30-38
8. Dobrovolny R., Dvorakova L., Ledvinova J., et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 83 (2005) 647-654
9. Chimenti C., Pieroni M., Morgante E., et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110 (2004) 1047-1053
10. Altarescu G.M., Goldfarb L.G., Park K.Y., et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 60 (2001) 46-51
11. Ries M., Moore D.F., Robinson C.J., et al. Quantitative dysmorphology assessment in Fabry disease. Genet Med 8 (2006) 96-101
12. Matsuzawa F., Aikawa S., Doi H., et al. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 117 (2005) 317-328
13. Garman S.C. Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl 96 (2007) 6-16
14. Altarescu G., Moore D.F., and Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 64 (2005) 2148-2150
15. Safyan R., Whybra C., Beck M., et al. An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw 17 (2006) 271-275
16. Meikle P.J., Hopwood J.J., Clague A.E., et al. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254
17. Desnick R.J., Eng C.M., and Ioannou Y.A. α-Galactosidase A deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 37-74
18. Breunig F., and Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol 21 (2008) 32-37
19. Rolfs A., Bottcher T., Zschiesche M., et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366 (2005) 1794-1796
20. Nakao S., Takenaka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
21. Sachdev B., Takenaka T., Teraguchi H., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
22. Monserrat L., Gimeno-Blanes J.R., Marin F., et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 50 (2007) 2399-2403
23. Morita H., Larson M.G., Barr S.C., et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 113 (2006) 2697-2705
24. Ommen S.R., Nishimura R.A., and Edwards W.D. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy. Heart 89 (2003) 929-930
25. Arad M., Maron B.J., Gorham J.M., et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352 (2005) 362-372
26. Vedder A.C., Strijland A., vd Bergh Weerman M.A., et al. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 29 (2006) 106-111
27. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38 (2001) 750-760
28. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38 (2001) 769-775
29. Schiffmann R., and Scott L.J. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 91 (2002) 48-52
30. Mohrenschlager M., Henkel V., and Ring J. Fabry disease: more than angiokeratomas. Arch Dermatol 140 (2004) 1526-1528
31. Mohrenschlager M., Braun-Falco M., Ring J., et al. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol 4 (2003) 189-196
32. Orteu C.H., Jansen T., Lidove O., et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol 157 (2007) 331-337
33. Moore D.F., Kaneski C.R., Askari H., et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci 257 (2007) 258-263
34. Mitsias P., and Levine S.R. Cerebrovascular complications of Fabry's disease. Ann Neurol 40 (1996) 8-17
35. Frustaci A., Chimenti C., Ricci R., et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345 (2001) 25-32
36. Elleder M., Bradova V., Smid F., et al. 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 (1990) 449-455
37. Elleder M. Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 92 (2003) 46-53
38. Lucke T., Hoppner W., Schmidt E., et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 82 (2004) 93-97
39. Hirano M., Davidson M., and DiMauro S. Mitochondria and the heart. Curr Opin Cardiol 16 (2001) 201-210
40. Linhart A., Kampmann C., Zamorano J.L., et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 28 (2007) 1228-1235
41. Linhart A., Palecek T., Bultas J., et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 139 (2000) 1101-1108
42. Senechal M., and Germain D.P. Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet 63 (2003) 46-52
43. Linhart A., Lubanda J.C., Palecek T., et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24 Suppl 2 (2001) 75-83
44. Sheth K.J., and Thomas Jr. J.P. Electrocardiograms in Fabry's disease. J Electrocardiol 15 (1982) 153-156
45. Kampmann C., Wiethoff C.M., Whybra C., et al. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 97 (2008) 463-469
46. Rijnbeek P.R., Witsenburg M., Schrama E., et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 22 (2001) 702-711
47. Pieroni M., Chimenti C., De Cobelli F., et al. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol 47 (2006) 1663-1671
48. Kounas S., Demetrescu C., Pantazis A.A., et al. The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol 51 (2008) 2058-2061
49. Koskenvuo J.W., Engblom E., Kantola I.M., et al. Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance. Clin Physiol Funct Imaging 29 (2009) 177-180
50. Palecek T., Dostalova G., Kuchynka P., et al. Right ventricular involvement in Fabry disease. J Am Soc Echocardiogr 21 (2008) 1265-1268
51. Kampmann C., Baehner F.A., Whybra C., et al. The right ventricle in Fabry disease. Acta Paediatr Suppl 94 (2005) 15-18
52. Pieroni M., Chimenti C., Ricci R., et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107 (2003) 1978-1984
53. Shah J.S., Lee P., Hughes D., et al. The natural history of left ventricular systolic function in Anderson-Fabry disease. Heart 91 (2005) 533-534
54. Pieroni M., Chimenti C., Russo A., et al. Tissue Doppler imaging in Fabry disease. Curr Opin Cardiol 19 (2004) 452-457
55. Moon J.C.C., Sachdev B., Elkington A.G., et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24 (2003) 2151-2155
56. De Cobelli F., Esposito A., Belloni E., et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 192 (2009) W97-102
57. Moon J.C., Sheppard M., Reed E., et al. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson 8 (2006) 479-482
58. Moon J.C.C., McKenna W.J., McCrohon J.A., et al. Toward clinical risk assessment inhypertrophic cardiomyopathy with gadolinium cardiovascular magnetic resonance. J Am Coll Cardiol 41 (2003) 1561-1567
59. Beer M., Weidemann F., Breunig F., et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 97 (2006) 1515-1518
60. Kawano M., Takenaka T., Otsuji Y., et al. Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease. Am J Cardiol 99 (2007) 261-263
61. Pochis W.T., Litzow J.T., King B.G., et al. Electrophysiologic findings in Fabry's disease with a short PR interval. Am J Cardiol 74 (1994) 203-204
62. Lobo T., Morgan J., Bjorksten A., et al. Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J 38 (2008) 407-414
63. Shah J.S., Hughes D.A., Sachdev B., et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 96 (2005) 842-846
64. Frustaci A., and Chimenti C. Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue. Circulation 116 (2007) e350-e351
65. Eckart R.E., Kinney K.G., Belnap C.M., et al. Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations. Cardiology 94 (2000) 208-212
66. Weidemann F., Strotmann J.M., Niemann M., et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol 35 (2009) 730-735
67. Kovarnik T., Mintz G.S., Karetova D., et al. Intravascular ultrasound assessment of coronary artery involvement in Fabry disease. J Inherit Metab Dis 31 (2008) 753-760
68. Elliott P.M., Kindler H., Shah J.S., et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 92 (2006) 357-360
69. Hughes D.A., and Mehta A.B. Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl 94 (2005) 28-33
70. Chimenti C., Morgante E., Critelli G., et al. Coronary artery bypass grafting for Fabry's disease: veins more suitable than arteries. Hum Pathol 38 (2007) 1864-1867
71. Desnick R.J., Brady R., Barranger J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
72. Magage S., Linhart A., Bultas J., et al. Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography 22 (2005) 333-339
73. Maron B.J., McKenna W.J., Danielson G.K., et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy: A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. Eur Heart J 24 (2003) 1965-1991
74. Cantor W.J., Daly P., Iwanochko M., et al. Cardiac transplantation for Fabry's disease. Can J Cardiol 14 (1998) 81-84
75. Baritussio A., Marzini S., Agostini M., et al. Amiodarone inhibits lung degradation of SP-A and perturbs the distribution of lysosomal enzymes. Am J Physiol Lung Cell Mol Physiol 281 (2001) L1189-L1199
76. Epstein A.E., DiMarco J.P., Ellenbogen K.A., et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): Developed in Collaboration With the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 117 (2008) e350-e408
77. Linthorst G.E., Hollak C.E., Donker-Koopman W.E., et al. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66 (2004) 1589-1595
78. Benichou B., Goyal S., Sung C., et al. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab 96 (2009) 4-12
79. Eng C.M., Banikazemi M., Gordon R.E., et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68 (2001) 711-722
80. Hughes D.A., Elliott P.M., Shah J., et al. 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 (2008) 153-158
81. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
82. Schiffmann R., Kopp J.B., Austin III H.A., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
83. Baehner F., Kampmann C., Whybra C., et al. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 26 (2003) 617-627
84. Beck M., Ricci R., Widmer U., et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34 (2004) 838-844
85. Imbriaco M., Pisani A., Spinelli L., et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 95 (2009) 1103-1107
86. Weidemann F., Breunig F., Beer M., et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
87. Weidemann F., Niemann M., Breunig F., et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119 (2009) 524-529
88. Breunig F., Weidemann F., Strotmann J., et al. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69 (2006) 1216-1221
89. Koskenvuo J.W., Hartiala J.J., Nuutila P., et al. Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis 31 (2008) 432-441
90. Kalliokoski R.J., Kantola I., Kalliokoski K.K., et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis 29 (2006) 112-118