Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

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 <i>GLA</i> c.901C>T, p.(Arg301Ter). Usually, males w...

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Bibliographic Details
Main Authors: Maria Xu, Christopher Orsborne, James Eden, Andrew Wallace, Heather J. Church, Karen Tylee, Sasalu Deepak, Christopher Cassidy, Peter Woolfson, Christopher Miller, Matthias Schmitt, Ana Jovanovic, William G. Newman
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Cardiogenetics
Subjects:
mosaic
Fabry disease
somatic mosaicism
cardiomyopathy
Online Access:https://www.mdpi.com/2035-8148/11/1/1

Internet

https://www.mdpi.com/2035-8148/11/1/1

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