F-CHECK Study

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by mutations in the gene encoding the enzyme alpha-galactosidase A. The deficiency of this enzyme leads to the accumulation of globotriaosylceramide (GB3) and related glycosphingolipids in a wide variety of cells throughout the body, affecting multiple organ systems. At the cardiac level, different cellular components can be affected, and therefore, different cardiac phenotypes and clinical presentations are possible. Although the most common phenotype is symmetric hypertrophic cardiomyopathy (HCM), asymmetric left ventricular (LV) hypertrophy, with or without obstruction, apical hypertrophic cardiomyopathy, as well as ischemic and arrhythmic events, are also possible manifestations of Fabry disease.

The F-CHECK study aims to screen for Fabry disease in patients with distinct phenotypes, i.e., with cardiomyopathy of unknown or uncertain etiology, explore the impact of the disease on other cardiac phenotypes, and obtain more data on the frequency of this disease at a national level.