Echocardiography in Anderson-Fabry Disease

Echocardiography is the most common diagnostic tool to screen for Fabry cardiomyopathy as it is fast, non-invasive, low-cost, widely available, easily applicable and reproducible. Echocardiography is the first-line investigation, being useful in all the stages of the disease: (1) in gene-positive patients, to unveil signs of early cardiac involvement and allowing timely treatment; (2) in patients with overt cardiomyopathy to estimate the severity of cardiac involvement, the possible related complications, and the effect of treatment. Recently, advanced echocardiographic techniques, such as speckle tracking analysis, are offering new insights in the assessment of Fabry disease patients and in the differential diagnosis of cardiomyopathies with hypertrophic phenotype. The aim of this review is to provide a comprehensive overview on the cardiac structural and functional abnormalities described in Fabry disease by means of echocardiography.