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Cardiogenetics: An Open Access Journal
Case Report

Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

1
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK
2
The North West Heart Centre, Manchester University Foundation Trust, Southmoor Road, Wythenshawe, Manchester M23 9LT, UK
3
Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Oxford Road, Manchester M13 9PL, UK
4
Cardiology Department, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK
5
Department of Cardiology, Royal Lancaster Infirmary, University Hospitals of Morecambe Bay NHS Trust, Lancaster LA1 4RP, UK
6
Lancashire Cardiac Centre, Blackpool Teaching Hospitals NHS Foundation Trust, Blackpool FY3 8NR, UK
7
Mark Holland Metabolic Unit, Salford Royal Foundation Trust, Salford M6 8HD, UK
8
Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester M13 9PL, UK
*
Author to whom correspondence should be addressed.
These authors contributed equally.
Cardiogenetics 2021, 11(1), 1-9; https://doi.org/10.3390/cardiogenetics11010001
Received: 29 October 2020 / Revised: 25 November 2020 / Accepted: 16 December 2020 / Published: 31 December 2020
We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.(Arg301Ter). Usually, males with Fabry disease due to loss of function variants in GLA show symptoms of the multisystemic features of the condition early in life, and have very low levels of the α-Gal A enzyme. This demonstrates that the diagnosis of Fabry disease in males with cardiomyopathy should still be considered even in the context of a normal plasma enzyme assay. View Full-Text
Keywords: mosaic; Fabry disease; somatic mosaicism; cardiomyopathy mosaic; Fabry disease; somatic mosaicism; cardiomyopathy
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MDPI and ACS Style

Xu, M.; Orsborne, C.; Eden, J.; Wallace, A.; Church, H.J.; Tylee, K.; Deepak, S.; Cassidy, C.; Woolfson, P.; Miller, C.; Schmitt, M.; Jovanovic, A.; Newman, W.G. Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy. Cardiogenetics 2021, 11, 1-9. https://doi.org/10.3390/cardiogenetics11010001

AMA Style

Xu M, Orsborne C, Eden J, Wallace A, Church HJ, Tylee K, Deepak S, Cassidy C, Woolfson P, Miller C, Schmitt M, Jovanovic A, Newman WG. Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy. Cardiogenetics. 2021; 11(1):1-9. https://doi.org/10.3390/cardiogenetics11010001

Chicago/Turabian Style

Xu, Maria; Orsborne, Christopher; Eden, James; Wallace, Andrew; Church, Heather J.; Tylee, Karen; Deepak, Sasalu; Cassidy, Christopher; Woolfson, Peter; Miller, Christopher; Schmitt, Matthias; Jovanovic, Ana; Newman, William G. 2021. "Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy" Cardiogenetics 11, no. 1: 1-9. https://doi.org/10.3390/cardiogenetics11010001

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