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Cardiac involvement in Anderson-Fabry disease

Filippo Maria Cauti1, Constantinos O'Mahony, Antonis Pantazis

  • 1Cardiology Department, University of Rome Sapienza, Rome, Italy. filippocauti@hotmail.it

BMJ Case Reports
|July 7, 2012
PubMed

Insights

Anderson-Fabry disease (AFD) can cause cardiac symptoms like left ventricular hypertrophy. Early diagnosis and treatment with recombinant enzyme are crucial, even though complications like arrhythmias may occur.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder.
  • It results from mutations in the GLA gene, leading to deficient alpha-galactosidase A activity.
  • Cardiac involvement, including left ventricular hypertrophy (LVH), is a significant manifestation.

Observation:

  • A 50-year-old normotensive male presented with cardiac symptoms attributed to LVH.
  • His condition was diagnosed as AFD, stemming from a GLA gene mutation.
  • The patient experienced arrhythmias during recombinant enzyme replacement therapy, necessitating an implantable cardioverter-defibrillator.

Findings:

  • Cardiac symptoms in this patient were directly linked to Anderson-Fabry disease.
  • Recombinant enzyme therapy, while initiated, did not prevent complications such as arrhythmias.
  • The case highlights the complex clinical course of AFD, even with treatment.

Implications:

  • This case underscores the importance of considering AFD in patients with unexplained LVH and cardiac symptoms.
  • Availability of effective treatments for AFD emphasizes the need for timely diagnosis.
  • Early recognition facilitates screening of at-risk family members, potentially preventing severe complications.

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