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Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy

José Pedro L Nunes1, Ovídio Costa, Maria do Sameiro Faria

  • 1Faculdade de Medicina do Porto, Alameda Prof Hernâni Monteiro, 4200 Porto, Portugal. jplnunes@med.up.pt

Nature Clinical Practice. Cardiovascular Medicine
|October 25, 2007
PubMed

Insights

A 64-year-old male with chest pain had cardiac Fabry disease, a genetic disorder. Despite treatment, left ventricular hypertrophy persisted, indicating the need for enzyme replacement therapy.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • A 64-year-old male presented with atypical chest pain and palpitations.
  • He had a history of arterial hypertension and significant concentric left ventricular hypertrophy.

Observation:

  • Antihypertensive therapy normalized blood pressure over 2.5 years.
  • Left ventricular hypertrophy remained unchanged despite normalized blood pressure.

Findings:

  • Diagnostic investigations included electrocardiography, echocardiography, myocardial perfusion scintigraphy, alpha-galactosidase A activity measurement, gene sequencing, brain MRI, carotid artery ultrasonography, renal evaluation, and cardiac Doppler tissue imaging.
  • Cardiac Fabry disease was diagnosed.
  • Management involved losartan, hydrochlorothiazide, low-dose aspirin, and bisoprolol.

Implications:

  • Enzyme replacement therapy is indicated for this patient.
  • Persistent left ventricular hypertrophy highlights the complex management of cardiac Fabry disease.
Abstract

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