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[Complete atrioventricular block disclosing Fabry's disease]

S Elhadad1, V Melet, T Domniez

  • 1Service de cardiologie et urgences cardiovasculaires, center hospitalier de Lagny-Marne-la-Vailée.

Archives Des Maladies Du Coeur Et Des Vaisseaux
|March 1, 1997
PubMed
Summary

Fabry disease, a genetic disorder causing lipid buildup, can lead to severe heart issues like atrioventricular block. This case highlights the critical cardiovascular complications of this sphingolipidosis.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiology

Background:

  • Fabry disease is an inherited sphingolipidosis resulting from enzyme deficiencies, leading to cellular lipid accumulation.
  • It presents with distinct cardiovascular and renal manifestations, often progressing to severe organ failure.
  • Understanding these manifestations is crucial for timely diagnosis and management.

Observation:

  • The authors present a case of a patient with juvenile, symptomatic complete infrahisian atrioventricular block.
  • This specific cardiac conduction abnormality was observed in the context of Fabry disease.
  • The case underscores the varied cardiac presentations of the condition.

Findings:

  • Fabry disease is characterized by sphingolipid accumulation due to enzyme defects.

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  • Cardiovascular complications, including atrioventricular block, are significant manifestations.
  • Renal failure is another severe outcome associated with this disorder.

    • Implications:

    • Early identification of cardiac involvement in Fabry disease is essential for preventing adverse outcomes.
    • This case emphasizes the need for comprehensive cardiovascular evaluation in patients diagnosed with Fabry disease.
    • Further research into the mechanisms of cardiac dysfunction in Fabry disease may improve therapeutic strategies.