Fabry's disease cardiomyopathy.

摘要

A 52-year-old woman was referred because of dizziness, weight loss and dyspnoea on exertion. She had been diagnosed with renal involvement of Fabry's disease 2 years earlier. On admission, her electrocardiogram showed left ventricular (LV) hypertrophy as well as non-specific ST-T changes (Fig. 1). On a transthoracic echo cardiogram, LV wall thickness was increased and the LV myocardium showed a binary appearance with enhanced echoreflectivity of the endocardial border and relatively reduced ^subendocardial echogenicity (Fig. 2). Tissue Doppler imaging showed decreased early diastolic velocity of the mitral annulus, indicating restrictive physiology. LV endomyocardial biopsy demonstrated diffuse vacuolization of myocytes, endothelial cells and smooth muscle cells (Fig. 3). The patient's symptoms improved after treatment with a-galactosidase A administered by intravenous infusion every 2 weeks.