Early detection of Fabry cardiomyopathy by tissue Doppler imaging

Maurizio Pieroni, Cristina Chimenti, Roberta Ricci, Patrizio Sale, Matteo Antonio Russo, Andrea Frustaci

Research output: Contribution to journalArticlepeer-review


Background - Fabry cardiomyopathy is diagnosed by detection of left ventricular hypertrophy (LVH) in patients with a-Galactosidase A deficiency. Conventional noninvasive tools are unable to provide a preclinical diagnosis allowing prompt institution of enzymatic therapy. Methods and Results - We studied three groups of patients: 10 patients with causal mutations for Fabry disease and LVH, 10 mutation-positive patients without LV, and 10 healthy relatives without causal mutations and no LVH. All patients with LVH and 6 patients with Fabry disease without LVH with complex repetitive ventricular arrhythmias underwent biventricular endomyocardial biopsy to assess cardiac involvement. In all patients 2-dimensional echocardiography with tissue Doppler analysis in the pulsed Doppler mode was performed: systolic (Sa), early diastolic (Ea), and late diastolic (Aa) velocities were measured, and the Ea/Aa ratio and the dimensionless parameter E/Ea were computed at both corners of the mitral annulus. Histology and electron microscopy studies showed glycosphingolipid deposits in all cases. All mutation-positive patients had significant reduction of Sa, Ea, and Aa velocities at both corners of the mitral annulus compared with normal control subjects. Ea/Aa ratio was significantly lower and E/Ea ratio significantly higher in mutation-positive patients than in control subjects. Patients with LVH showed significantly lower contraction and relaxation tissue Doppler velocities, lower Ea/Aa ratio, and higher E/Ea ratio in comparison with mutation-positive patients with no LVH. Conclusions - Fabry cardiomyopathy is characterized by reduced myocardial contraction and relaxation tissue Doppler velocities, detectable even before development of LVH. Tissue Doppler imaging can provide a preclinical diagnosis of Fabry cardiomyopathy, allowing early institution of enzyme replacement therapy.

Original languageEnglish
Pages (from-to)1978-1984
Number of pages7
Issue number15
Publication statusPublished - Apr 22 2003


  • Biopsy
  • Cardiomyopathy
  • Echocardiography
  • Hypertrophy
  • Tissue

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine


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