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Isolated cardiac manifestations in Fabry disease: the UK experience

B Sachdev1, P M Elliott

  • 1St George's Hospital Medical School, London, UK.

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|February 8, 2003
PubMed

Insights

Fabry disease is a genetic condition that often presents with cardiac abnormalities, including left ventricular hypertrophy. Early consideration of Fabry disease in unexplained cardiac conditions is crucial for diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Cardiac abnormalities are a frequent manifestation of Fabry disease.
  • In some individuals, cardiac issues may be the sole indicator of Fabry disease.
  • Fabry disease is an inherited lysosomal storage disorder.

Purpose of the Study:

  • To investigate the prevalence of Fabry disease in male patients referred for hypertrophic cardiomyopathy.
  • To characterize the cardiac manifestations in male and female patients with Fabry disease.

Main Methods:

  • Retrospective analysis of 153 consecutively referred male patients at a national referral center.
  • Electrocardiographic (ECG) and echocardiographic assessments were performed.
  • Prevalence was calculated for the overall cohort and for patients over 40 years of age.

Main Results:

  • Fabry disease was identified in 4% of all male patients and 6% of those over 40.
  • All affected male patients exhibited ECG abnormalities, including left ventricular hypertrophy, repolarization abnormalities, and prolonged QRS duration.
  • Heterozygote females also demonstrated significant ECG and echocardiographic abnormalities.

Conclusions:

  • Fabry disease should be included in the differential diagnosis for patients presenting with unexplained cardiac disease.
  • Cardiac screening may aid in the early detection of Fabry disease.
  • Recognizing cardiac signs is vital for timely diagnosis and management of Fabry disease.
Abstract

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