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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Aleš Linhart1, Dominique P Germain2, Iacopo Olivotto3

  • 1Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

European Journal of Heart Failure
|July 9, 2020
PubMed

Insights

Fabry disease (FD) is a genetic disorder affecting multiple organs. This review details FD-related heart disease and expert recommendations for managing cardiac complications.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder.
  • Caused by pathogenic variants in the alpha-galactosidase A (GLA) gene.
  • Leads to accumulation of globotriaosylceramide and globotriaosylsphingosine.

Purpose of the Study:

  • To summarize current knowledge of FD-related heart disease.
  • To present expert consensus recommendations for managing cardiac involvement in FD.
  • To provide guidance on specific treatments and general cardiac symptom management.

Main Methods:

  • Literature review of FD-related cardiac manifestations.
  • Synthesis of expert consensus on management strategies.
  • Analysis of treatment options including enzyme replacement therapy and pharmacological chaperones.

Main Results:

  • FD can cause progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure, and sudden cardiac death.
  • Management requires tailored approaches based on GLA gene variants.
  • Specific therapies and general cardiac care are crucial for patients.

Conclusions:

  • Cardiac involvement is a significant aspect of Fabry disease.
  • Early diagnosis and appropriate management are essential for improving outcomes.
  • Expert consensus provides a framework for optimal cardiac care in FD.

Keywords:
CardiomyopathyEnzyme replacement therapyFabry diseaseGLA gene

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