Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

William Newman; Christopher Orsborne; Maria Xu; Christopher Miller; Matthias Schmitt; Ana Jovanovic; P Woolfson; J. Eden; H.J. Church; Karen L Tylee; Christopher Cassidy; Sasalu Deepak; Andrew J Wallace

doi:10.3390/cardiogenetics11010001

Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

William Newman, Christopher Orsborne, Maria Xu, Christopher Miller, Matthias Schmitt, Ana Jovanovic, P Woolfson, J. Eden, H.J. Church, Karen L Tylee, Christopher Cassidy, Sasalu Deepak, Andrew J Wallace

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Abstract

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

Original language	English
Journal	Cardiogenetics
Volume	11
DOIs	https://doi.org/10.3390/cardiogenetics11010001
Publication status	Published - 31 Dec 2020

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title = "Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy",

abstract = "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",

author = "William Newman and Christopher Orsborne and Maria Xu and Christopher Miller and Matthias Schmitt and Ana Jovanovic and P Woolfson and J. Eden and H.J. Church and Tylee, {Karen L} and Christopher Cassidy and Sasalu Deepak and Wallace, {Andrew J}",

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doi = "10.3390/cardiogenetics11010001",

language = "English",

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T1 - Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

AU - Newman, William

AU - Orsborne, Christopher

AU - Xu, Maria

AU - Miller, Christopher

AU - Schmitt, Matthias

AU - Jovanovic, Ana

AU - Woolfson, P

AU - Eden, J.

AU - Church, H.J.

AU - Tylee, Karen L

AU - Cassidy, Christopher

AU - Deepak, Sasalu

AU - Wallace, Andrew J

PY - 2020/12/31

Y1 - 2020/12/31

N2 - 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

AB - 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

U2 - 10.3390/cardiogenetics11010001

DO - 10.3390/cardiogenetics11010001

M3 - Article

SN - 2035-8253

VL - 11

JO - Cardiogenetics

JF - Cardiogenetics

ER -

Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

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