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Vol 69, No 4 (2011)
Chorzy trudni nietypowi
Published online: 2011-04-26
Submitted: 2012-12-28
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Cardiac involvement in Fabry’s disease - typical disease course and diagnostic problems

Michał Owsiak, Agnieszka Kwiecień-Sobstel, Ewa Mirek-Bryniarska, Leszek Bryniarski
Kardiol Pol 2011;69(4):364-366.

open access

Vol 69, No 4 (2011)
Chorzy trudni nietypowi
Published online: 2011-04-26
Submitted: 2012-12-28

Abstract

Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of proper heart function. Wide range of symptomps makes diagnosis difficult. We present a case of a 43 year-old male with typical Fabry disease.
Kardiol Pol 2011; 69, 4: 364-366

Abstract

Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of proper heart function. Wide range of symptomps makes diagnosis difficult. We present a case of a 43 year-old male with typical Fabry disease.
Kardiol Pol 2011; 69, 4: 364-366

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Keywords

Fabry disease; Anderson-Fabry disease; alpha-galactosidase A deficiency; cardiac variant of Fabry disease

About this article
Title

Cardiac involvement in Fabry’s disease - typical disease course and diagnostic problems

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 69, No 4 (2011)

Pages

364-366

Published online

2011-04-26

Bibliographic record

Kardiol Pol 2011;69(4):364-366.

Keywords

Fabry disease
Anderson-Fabry disease
alpha-galactosidase A deficiency
cardiac variant of Fabry disease

Authors

Michał Owsiak
Agnieszka Kwiecień-Sobstel
Ewa Mirek-Bryniarska
Leszek Bryniarski

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