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First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease

Arnon Blum1, Haim Ashkenazi, Igor Haromankov

  • 1Department of Internal Medicine A, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. navablum@hotmail.com

Southern Medical Journal
|March 13, 2003
PubMed

Insights

Fabry disease, a genetic disorder, can present with unique heart abnormalities. This case highlights previously unreported electrocardiographic and echocardiographic findings in a patient with Fabry disease.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked genetic disorder affecting glycosphingolipid metabolism.
  • Defective enzyme activity leads to ceramide trihexoside accumulation in various tissues, including the heart and kidneys.

Observation:

  • A young male patient with Fabry disease presented with left leg cellulitis.
  • Unusual electrocardiographic findings included a prolonged PR interval and right bundle branch block.
  • Echocardiography revealed no signs of hypertrophic or septal cardiomyopathy but showed a restrictive pattern.

Findings:

  • The observed combination of prolonged PR interval, right bundle branch block, and restrictive pattern on echocardiography is a novel presentation in Fabry disease.
  • These findings expand the spectrum of known cardiac manifestations associated with this disorder.

Implications:

  • This case broadens the understanding of cardiac involvement in Fabry disease.
  • Clinicians should consider these specific ECG and echocardiographic patterns when evaluating patients with Fabry disease.

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