Reduction in ECG abnormalities and improvement of regional left ventricular function in a patient with Fabry’s disease during enzyme-replacement therapy

Abstract

A 65-year-old German woman was admitted to our hospital with signs and symptoms of an acute coronary syndrome (NSTEMI). On admission, she reported progressive cervical and chest pain, since a few hours. On physical examination, there was a non-specific cardiac murmur with punctum maximum at Erb0s point. Lung sounds were normal, and blood pressure was 115/70 mmHg. The following laboratory data were obtained: creatine kinase of 282 U/L (reference level \171 U/L), troponin I 4.5 lg/L (reference level \0.04 lg/L), lactate dehydrogenase of 250 U/L (reference level \248 U/L), creatinine of 0.82 mg/dL (reference level 0.7–1.2 mg/dL) and C-reactive protein of 0.29 mg/dL (reference level \0.5 mg/dL). The ECG demonstrated repolarization abnormalities in leads I, II, III, aVF and V4-V6 (Fig. 1a). Cardiac catheterization excluded a significant macroangiopathy. A transthoracic echocardiogram was consistent with hypertrophic cardiomyopathy of the apical type without significant LV outflow obstruction (Fig. 2a) prompting routine screening to exclude secondary origin of LVH. A decreased a-galactosidase A activity was found and triggered further molecular genetic workup. A Fabry-specific mutation C.559.A[G (M187V) in the a-galactosidase gene was identified. In addition to symptomatic medical treatment, and in cooperation with a regional center for Fabry’s disease, the patient received continuous enzymereplacement therapy with Agalsidase-b [1]. After 1 year, the clinical status of the patient was stable. Both regression of the ST segment abnormalities (Fig. 1b) on ECG, and improvement of regional LV function (Fig. 2b) by speckle tracking echocardiography was documented [2, 3]. This report illustrates the potential of a causal therapy in patients with cardiac manifestations of Fabry’s disease.