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Onset and progression of the Anderson-Fabry disease related cardiomyopathy

Christoph Kampmann1, Ales Linhart, Frank Baehner

  • 1University Children's Hospital Mainz, Germany.

International Journal of Cardiology
|June 24, 2008
PubMed

Insights

Cardiac involvement in Anderson-Fabry disease (AFD) leads to significant health issues. This study found left ventricular hypertrophy (LVH) is common in both males and females with AFD, but onset is later and progression slower in females.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Cardiac involvement is a major cause of morbidity and mortality in Anderson-Fabry disease (AFD).
  • Understanding the onset and progression of cardiac issues in AFD is crucial for patient management.
  • This study focuses on documenting cardiac changes in a cohort of AFD patients.

Purpose of the Study:

  • To document the onset and progression of cardiac involvement in male and female Anderson-Fabry disease patients.
  • To analyze the correlation between age and left ventricular mass indexed (LVMi) in AFD.
  • To compare the prevalence and progression rates of left ventricular hypertrophy (LVH) between genders.

Main Methods:

  • Cross-sectional echocardiographic study of 177 male and female AFD patients.
  • Longitudinal follow-up of 76 patients (38 males, 38 females) over a mean of 4.5 years without enzyme replacement therapy.
  • Analysis of left ventricular mass indexed (LVMi) and prevalence of left ventricular hypertrophy (LVH).

Main Results:

  • A significant correlation between age and LVMi was observed in both males and females with AFD (P<0.0001).
  • Initial LVH prevalence was 48.6% in males and 36.4% in females, peaking at ages 40 and 60, respectively.
  • LVMi increased annually by 4.07 g/m(2.7) in males and 2.31 g/m(2.7) in females (P<0.01).

Conclusions:

  • Anderson-Fabry disease is associated with a high prevalence of left ventricular hypertrophy in both genders.
  • The onset of LVH in AFD is delayed in females compared to males.
  • The rate of LVH progression is slower in females with AFD.
Abstract

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