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Related Experiment Videos

Tissue Doppler imaging in Fabry disease.

Maurizio Pieroni1, Cristina Chimenti, Andrea Russo

  • 1Cardio-Thoracic and Vascular Department, San Raffaele Hospital, Milan, Italy.

Current Opinion in Cardiology
|August 19, 2004
PubMed
Summary

Early diagnosis of Fabry cardiomyopathy is crucial for effective enzyme replacement therapy. Tissue Doppler imaging detects cardiac involvement in Fabry disease, even in carriers, aiding timely intervention.

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Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Fabry disease is a genetic disorder that can cause hypertrophic cardiomyopathy.
  • Effective enzyme replacement therapy necessitates early diagnosis.
  • Fabry cardiomyopathy requires consideration in the differential diagnosis of hypertrophic cardiomyopathy.

Purpose of the Study:

  • To evaluate the utility of Tissue Doppler imaging (TDI) for early detection of cardiac involvement in Fabry disease.
  • To assess TDI's role in monitoring treatment efficacy of enzyme replacement therapy.
  • To investigate TDI's capability in identifying cardiac issues in female Fabry carriers.

Main Methods:

  • Tissue Doppler imaging was performed on Fabry patients with biopsy-proven cardiac involvement.

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  • Diastolic and systolic myocardial velocities were analyzed.
  • TDI was used to assess female carriers and patients undergoing enzyme replacement therapy.

    • Main Results:

    • TDI revealed reduced myocardial velocities in Fabry patients, indicating both diastolic and systolic dysfunction.
    • Abnormalities were detected even in patients with normal cardiac wall thickness and in female carriers.
    • TDI and strain rate imaging proved effective in assessing treatment response to enzyme replacement therapy.

    Conclusions:

    • Tissue Doppler imaging is a sensitive and accurate noninvasive tool for early diagnosis of Fabry cardiomyopathy.
    • TDI aids in assessing myocardial dysfunction and treatment efficacy in Fabry disease.
    • Abnormalities detected by TDI in female carriers may warrant further invasive cardiac assessment.