Objectives: Fabry disease is caused by deficiency of alpha-galactosidase A, and typically causes mutti-organ dysfunction. Patients with manifestations limited to the heart, We have reported a 3% prevalence of this cardiac variant in men with LVH, which we designated 'cardiac Fabry disease'. The purposes of this study were to evaluate the terminal stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease.
Methods: We examined seven terminal stage patients with cardiac Fabry disease. During hospitalization, standard 12-lead electrocardiograms, Hotter electrocardiograms, and echocardiograms were obtained. Autopsies were performed and macroscopic along with microscopic findings were evaluated.
Results: Six patients died of heart failure and one of ventricular fibrillation. Etectrocardiograms revealed the presence of conduction abnormalities and nonsustained ventricular tachycardia. Echocardiograms and autopsy findings revealed LVH in all patients. Localized basal posterior watt thinning of the left ventricle was detected in the six patients who died of heart failure. All patients had severe left ventricular dysfunction. Histologically, myocardial cells, but not cardiac vascular endothelial cells, showed glycosphingolipid accumulation. No accumulation was observed in other organs or in systemic vascular endothelial cells.
Conclusions: Severe left ventricular dysfunction with associated conduction disturbances and ventricular arrhythmias occur in patients with terminal stage cardiac Fabry disease. Furthermore, LVH is present and associated with thinning of the base of the left ventricular posterior watt. In contrast to typical Fabry disease, accumulation of glycosphingolipids was observed in myocardial cells but not in other organs. (c) 2008 Japanese College of Cardiology. Published by Elsevier Ireland Ltd. All rights reserved.