Article
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Circulation - 22 Apr 2003
Pieroni Maurizio, Chimenti Cristina, Ricci Roberta, Sale Patrizio, Russo Matteo Antonio, Frustaci Andrea
Abstract excerpt
BACKGROUND: Fabry cardiomyopathy is diagnosed by detection of left ventricular hypertrophy (LVH) in patients with alpha-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...
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