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Anderson-Fabry disease in heart failure

Akhtar, MM; Elliott, PM; (2018) Anderson-Fabry disease in heart failure. Biophysical Reviews , 10 (4) pp. 1107-1119. 10.1007/s12551-018-0432-5. Green open access

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Abstract

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry’s disease is reported to be in the range of 1 in 40,000–117,000, although this value may be a significant underestimate given under recognition of symptoms and delayed or missed diagnosis. Deficiency in alpha-galactosidase A causes an accumulation of neutral glycosphingolipids such as globotriaosylceramide (Gb3) in lysosomes within various tissues including the vascular endothelium, kidneys, heart, eyes, skin and nervous system. Gb3 accumulation induces pathology via the release of pro-inflammatory cytokines, growth-promoting factors and by oxidative stress, resulting in myocardial extracellular matrix remodelling, left ventricular hypertrophy (LVH), vascular dysfunction and interstitial fibrosis. Cardiac involvement manifesting as ventricular hypertrophy, systolic and diastolic dysfunction, valvular abnormalities and conduction tissue disease is common in AFD and is associated with considerable cardiovascular morbidity and mortality from heart failure, sudden cardiac death and stroke-related death.

Type: Article
Title: Anderson-Fabry disease in heart failure
Location: Germany
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s12551-018-0432-5
Publisher version: http://doi.org/10.1007/s12551-018-0432-5
Language: English
Additional information: © The Author(s) 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
Keywords: Anderson-Fabry disease, Globotriaosylceramide, GLA gene, Heart failure
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: http://discovery.ucl.ac.uk/id/eprint/10052178
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