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(Circulation. 2003;107:1978.)
© 2003 American Heart Association, Inc.

Clinical Investigation and Reports

Early Detection of Fabry Cardiomyopathy by Tissue Doppler Imaging

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

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.

Correspondence to Andrea Frustaci, MD, Cardiology Department, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy. E-mail biocard{at}rm.unicatt.it

Background— Fabry cardiomyopathy is diagnosed by detection of left ventricular hypertrophy (LVH) in patients with -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.

Key Words: cardiomyopathy • hypertrophy • echocardiography • tissue • biopsy

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