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Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy

Sam Williams1, Ahmed El-Medany2, Angus Nightingale1

  • 1Division of Cardiology, Bristol Heart Institute, Bristol, UK.

BMJ Case Reports
|September 4, 2021
PubMed

Insights

Fabry disease can mimic hypertrophic cardiomyopathy, leading to end-stage heart failure if misdiagnosed. Early enzyme replacement therapy is crucial for patients with Fabry disease to prevent cardiac progression.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary concern in patients with unexplained left ventricular hypertrophy.
  • Fabry disease, a lysosomal storage disorder, can present with cardiac manifestations mimicking HCM.
  • Diagnostic delays can lead to advanced cardiac damage and heart failure.

Observation:

  • A 53-year-old male with a history of presumed HCM presented with end-stage heart failure.
  • Initial diagnoses included dilated cardiomyopathy and a 'burnt-out' phase of HCM.
  • Subsequent evaluation revealed the underlying cause to be Fabry disease.

Findings:

  • Fabry disease is caused by deficient alpha-galactosidase A enzyme activity.
  • Cardiac involvement in Fabry disease typically presents as left ventricular hypertrophy.
  • Untreated Fabry disease can progress to a dilated, poorly functioning left ventricle.

Implications:

  • Consider Fabry disease in patients with a clinical presentation of HCM.
  • Re-evaluate historical HCM diagnoses with advanced diagnostic tools.
  • Early enzyme replacement therapy in Fabry disease can prevent progression to heart failure.

Keywords:
cardiovascular medicinecardiovascular systemheart failure

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