Sisters with atypical Fabry's disease with complete atrioventricular block

Abstract

A 56 year old woman with severe right heart failure and complete atrioventricular block was referred to hospital for further examination. Symptoms and signs suggestive of Fabry's disease, such as corneal opacities, acroparaesthesias, hypohidrosis, and angiokeratoma, were not noted. Echocardiography showed a diffuse hypertrophic left ventricular wall and paradoxical movement of the interventricular septum. Cardiac catheterisation showed restrictive-type ventricular dysfunction. Left ventricular endomyocardial biopsy showed central vacuolar degeneration of myocytes with inclusion bodies, which had a concentric lamellar configuration under electron microscopy. This finding is specific for Fabry's disease. The patient's elder sister had experienced an almost identical clinical course and histological findings of myocardial cells on necropsy. In conclusion, two sisters were encountered displaying interesting cases of atypical Fabry's disease. Symptoms began with complete atrioventricular block and histological myocardial findings were specific for Fabry's disease.

Figure 1

Optical microscopy showing vacuolar degeneration in myocardial cells. Inclusion bodies are present in vacuoles. Haematoxylin and eosin, original magnification ×460.

Figure 2

Electron microscopy showing concentric lamellar configuration consistent with inclusion bodies shown in vacuoles of myocardial cells. Lamellar arrangement is regular over a 5–6 nm interval.