Echocardiographic Assessment of Patients with Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A. Increased left ventricular wall thickness has been the most commonly described cardiovascular manifestation of the disease. However, a variety of other structural and functional abnormalities have also been reported. Echocardiography is an effective noninvasive method of assessing the cardiac involvement of Fabry disease. A more precise and comprehensive characterization of Fabry cardiomyopathy using conventional and novel echocardiographic techniques may lead to earlier diagnosis, more accurate prognostication, and timely treatment. The aim of this review is to provide a comprehensive overview of the structural and functional abnormalities on echocardiography that have thus far been described in patients with Fabry disease and to highlight potential areas that would benefit from further research.