on March 31, 2003
Published online before print March 31, 2003, doi: 10.1161/01.CIR.0000061952.27445.A0
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Submitted on November 4, 2002
From the Department of Cardiology (M.P., C.C., A.F.) and Pediatrics (R.R.), Catholic University, Rome; and Department of Pathology (P.S., M.A.R.) "La Sapienza" University, Rome, Italy. * To whom correspondence should be addressed. E-mail: biocard{at}rm.unicatt.it.
Background--Fabry cardiomyopathy is diagnosed by detection of left ventricular hypertrophy (LVH) in patients with 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.
Revised on January 28, 2003
Accepted on February 3, 2003
Early Detection of Fabry Cardiomyopathy by Tissue Doppler Imaging
Maurizio Pieroni MD,
-Galactosidase A deficiency. Conventional noninvasive tools are unable to provide a preclinical diagnosis allowing prompt institution of enzymatic therapy.
Key words: cardiomyopathy • hypertrophy • echocardiography • tissue • biopsy
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