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Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity,

Justina C Wu1, Carolyn Y Ho, Hicham Skali

  • 1Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.

European Heart Journal
|January 12, 2010
PubMed

Insights

Fabry disease causes cardiac abnormalities, primarily left ventricular hypertrophy (LVH), in both males and females. Lower alpha-galactosidase A activity correlates with increased cardiac mass, even in young patients.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Fabry disease is an X-linked genetic disorder caused by alpha-galactosidase A deficiency.
  • This deficiency leads to the accumulation of glycosphingolipids throughout the body.
  • Cardiovascular manifestations are a significant complication of Fabry disease.

Purpose of the Study:

  • To analyze the cardiovascular manifestations in a cohort of Fabry disease patients.
  • To investigate the relationship between disease severity, alpha-galactosidase A activity, and cardiac abnormalities.
  • To define the prevalence and characteristics of cardiac pathology in Fabry disease.

Main Methods:

  • Prospective analysis of 139 Fabry patients (92 males, 47 females) from multinational clinical trials.
  • Baseline echocardiograms and electrocardiograms were performed.
  • Cardiovascular symptoms, left ventricular mass index (LVMI), and left ventricular hypertrophy (LVH) were assessed.

Main Results:

  • Cardiovascular symptoms were present in 60.4% of patients.
  • Increased LVMI (165.5 +/- 66.9 g/m²) and concentric left ventricular hypertrophy (LVH) were observed in 84.8% of patients.
  • Plasma alpha-galactosidase A activity was inversely associated with LVMI in females (r = -0.45, P < 0.040).

Conclusions:

  • Concentric LVH is the predominant cardiac pathology in Fabry disease, affecting both genders by the third decade.
  • LVMI is inversely correlated with alpha-galactosidase A activity.
  • LVH is prevalent even in females under 20 years old, indicating early cardiac involvement.
Abstract

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