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A 57 year old man was admitted to hospital in Osaka, Japan because of exertional dyspnoea and progressive renal failure. He had a history of renal dysfunction for 39 years without treatment. The patient's cousin had been diagnosed with Fabry's disease, and his sister with severe left ventricular hypertrophy with obstructive outflow tract treated with a permanent pacemaker. The α galactosidase A activity of his leucocytes was much less than the normal range. Fabry's disease was diagnosed by means of detailed examinations. Cross sectional echocardiography in the parasternal long axis view (top) and apical four chamber view (bottom) showed that both the interventricular septum and the left ventricular free wall were severely thickened without obstructing the left ventricle, especially in the region of the septum.
In homozygous men and some heterozygous women, glycosphingolipid is deposited in the skin, kidneys, vascular system, and heart by deficiency of the lysosomal enzyme α galactosidase A. Characteristically, patients die during the fourth or fifth decade from cardiac, vascular, or renal involvement. The feature of cardiac involvement is increased left ventricular wall thickness resulting from progressive glycosphingolipid deposition in the myocardium. Recently, α galactosidase gene mutations including partial deletions and point mutations have been detected. Molecular genetic analysis, measurement of α galactosidase A activity, and endomyocardial biopsy are useful to distinguish Fabry's disease from hypertrophic cardiomyopathy.