Vol 69, No 4 (2011)
Chorzy trudni nietypowi
Published online: 2011-04-26
Cardiac involvement in Fabry’s disease - typical disease course and diagnostic problems
DOI: 10.33963/v.kp.79354
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
Kardiol Pol 2011; 69, 4: 364-366
Keywords: Fabry diseaseAnderson-Fabry diseasealpha-galactosidase A deficiencycardiac variant of Fabry disease
