Abstract
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 αgalactosidase 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.
Highlights
Fabry disease is an X-linked lysosomal storage disorder caused by a genetic deficiency of the enzyme -galactosidase A ( -Gal A), which results in progressive accumulation of glycosphingolipids in various cell types and organs throughout the body, including skin, kidney, heart, vascular endothelium and peripheral nervous system
He had a history of dysrhythmias and presented with ECG abnormalities, echocardiographic evidence of left ventricular hypertrophy (LVH) and reduced tissue Doppler imaging velocities and lateenhancement areas at gadolinium enhanced cardiac magnetic resonance evaluation
The cardiac variant, which usually presents in subjects >40 years of age, is characterized by a number of cardiac abnormalities, including left ventricular hypertrophy (LVH) mimicking the clinical features of hypertrophic cardiomyopathy (HCM), valvular insufficiency and conduction abnormalities [1,2,3,4]
Summary
Fabry disease is an X-linked lysosomal storage disorder caused by a genetic deficiency of the enzyme -galactosidase 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. In its multisystemic classic form, occurring in males with
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
