Tissue Doppler imaging in Fabry disease

Maurizio Pieroni, Cristina Chimenti, Andrea Russo, Matteo Antonio Russo, Attilio Maseri, Andrea Frustaci

Research output: Contribution to journalArticlepeer-review


Purpose of review: The development of effective enzyme replacement/ enhancement therapy makes of clinical relevance considering Fabry disease in the differential diagnosis of patients with hypertrophic cardiomyopathy. In particular the opportunity to significantly modify the clinical progression of the disease has reinforced the need for early diagnosis of Fabry cardiomyopathy. Recent findings: The study with tissue Doppler of Fabry patients with endomyocardial biopsy-proven cardiac involvement showed a reduction of both diastolic and systolic myocardial velocities recorded at septal and lateral corners of mitral annulus. Tissue Doppler abnormalities were present not only in patients with left ventricular hypertrophy but also in younger patients with normal cardiac wall thickness and represent the first sign of myocardial damage. Furthermore tissue Doppler studies have been shown useful in detecting cardiac involvement in female carriers with no systemic manifestations of Fabry disease. In patients already submitted to enzyme-replacement therapy tissue Doppler and strain rate imaging represent useful noninvasive tools in assessing treatment efficacy. Summary: Tissue Doppler imaging can provide early detection of cardiac involvement in Fabry disease and represents the most accurate and sensitive noninvasive tool for the diagnosis of myocardial dysfunction and for the assessment of cardiac improvement during enzyme replacement therapy. The detection of tissue Doppler abnormalities in female carriers may represent a hint for an invasive assessment of cardiac involvement.

Original languageEnglish
Pages (from-to)452-457
Number of pages6
JournalCurrent Opinion in Cardiology
Issue number5
Publication statusPublished - Sept 2004


  • Echocardiography
  • Endomyocardial biopsy
  • Fabry disease
  • Hypertrophic cardiomyopathy
  • Tissue Doppler

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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