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Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
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The Fabry cardiomyopathy - diagnostic approach and current treatment

Frank Weidemann, Georg Ertl, Christoph Wanner

  • 1Medizinische Klinik und Poliklinik I, Universitätsklinik Wurzburg, Oberduerrbacher Str. 6, 97080 Würzburg, Germany. Weidemann_F@medizin.uni-wuerzburg.de.

Current Pharmaceutical Design
|December 9, 2014
PubMed

Insights

Anderson-Fabry disease, a lysosomal storage disorder, causes heart problems like hypertrophy and fibrosis. Early treatment is crucial for managing Fabry cardiomyopathy and improving patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Anderson-Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
  • Globotriaosylceramide accumulation causes multisystemic effects, notably impacting the heart, kidneys, and nervous system.
  • Fabry cardiomyopathy frequently presents as concentric left-ventricular hypertrophy.

Purpose of the Study:

  • To review the characteristics of Fabry cardiomyopathy.
  • To outline clinical assessment methods for cardiac involvement in Fabry disease.
  • To highlight therapeutic strategies for optimizing patient outcomes.

Main Methods:

  • Literature review of Fabry disease and its cardiac manifestations.
  • Analysis of clinical assessment techniques for Fabry cardiomyopathy.
  • Synthesis of current therapeutic approaches and their impact on prognosis.

Main Results:

  • Fabry cardiomyopathy progresses to myocardial replacement fibrosis in advanced stages.
  • Fibrosis typically begins in the mid-myocardial layers and becomes transmural.
  • Prognosis is significantly influenced by the timing of therapeutic intervention.

Conclusions:

  • Early diagnosis and treatment are essential for managing Fabry cardiomyopathy.
  • Therapy in advanced stages primarily focuses on stabilization.
  • Comprehensive management strategies are key to improving long-term outcomes for patients.

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