Cardiac involvement is very frequent with Fabry disease, an X-linked lysosomal storage disorder caused by defi ciency of α-galactosidase A. Enzyme replacement therapy has been proven effective in reducing gycosphingolipid accumulation in endothelial cells of the kidney, heart and skin, as well as improving cardiac morphology and function.

However, Fabry disease cardiomyopathy (FC) is often indistinguishable from hypertrophic cardiomyopathy (HCM) or other causes of left ventricular hypertrophy (LVH), based on clinical and instrumental fi ndings. We describe a 60-yearold patient with unexplained HCM and progressive renal disease who was admitted to our centre for echocardiography evaluation. He had a history of dysrhythmias (for which he had undergone implantation of an ICD device) and presented with ECG abnormalities, echocardiographic evidence of LVH and reduced tissue Doppler imaging velocities and lateenhancement areas at gadolinium enhanced cardiac magnetic resonance evaluation.

Demonstration of a total defi ciency of α- galactosidase A in the leukocytes confi rmed the diagnosis of Fabry disease. The patient experienced improvement of pain, oedema, exercise capacity and cardiac and renal haematological parameters after 6 weeks’ treatment with agalsidase α. Fabry disease should always be considered in the differential diagnosis of unexplained LVH.

Fabry disease is an X-linked lysosomal storage disorder caused by a genetic deficiency of the enzyme a-galactosidase A (a-Gal A), which results in progressive accumulation of glycosphingolipids (mainly globotriaosylceramide) in various cell types and organs throughout the body, including skin, kidney, heart, vascular endothelium and peripheral nervous system. Mutations in the a-Gal A gene, located on the X chromosome (locus Xq22) are responsible for the classical manifestations of Fabry disease, and over 300 mutations (mostly family specific) have been identified, including missense and nonsense mutations, gene rearrangement and splicing defects.

Prompt diagnosis of Fabry disease is imperative, since specific enzyme replacement therapy is now available. Furthermore, it has been suggested that starting treatment early, before myocardial fibrosis has developed, results in better long-term outcomes in terms of myocardial morphology and function. However, non-invasive diagnosis of FC can be challenging. FC and HCM (osbstructive, nonobstructive or apical) share several morphologic and functional characteristics, including ECG and echocardiographic features indicative of LVH, reduced TDI velocities and late enhancement areas detected by CMR. The two forms are often indistinguishable based on clinical, instrumental and imaging findings. A binary appearance of the LV endocardial border, which is not visible in patients with HCM, has been identified as an ecocardiographic diagnostic hallmark of FC.

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