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Related Experiment Videos

Cardiac involvement in Fabry disease.

A Linhart1, S Magage, T Palecek

  • 11st School of Medicine, Charles University, Prague, Czech Republic. alinh@lf1.cuni.cz

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|February 8, 2003
PubMed
Summary

Fabry disease, a lysosomal disorder, causes glycosphingolipid buildup, particularly affecting the heart. Enzyme replacement therapy shows promise for managing this rare X-linked condition.

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Area of Science:

  • Genetics
  • Biochemistry
  • Cardiology

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • It leads to progressive accumulation of neutral glycosphingolipids in various tissues, including the heart.

Purpose of the Study:

  • To describe the cardiac manifestations of Fabry disease.
  • To highlight the impact of enzyme replacement therapy on Fabry disease progression.

Main Methods:

  • Review of clinical characteristics and cardiac involvement in Fabry disease patients.
  • Assessment of outcomes with enzyme replacement therapy.

Main Results:

  • Cardiac involvement, including myocardial hypertrophy and conduction abnormalities, can be the primary feature.

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  • Enzyme replacement therapy demonstrates potential in halting or reversing organ damage.

    • Conclusions:

    • Early diagnosis of Fabry disease is critical for improving patient outcomes.
    • Enzyme replacement therapy offers a promising therapeutic strategy for Fabry disease.