Fabry disease cardiomyopathy: A practical guide for cardiologists

Fabry disease (FD) is an X-linked lysosomal storage disease that results in the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3) in a variety of cells. FD most prominently involves cardiac, nervous, and renal tissue, with cardiac complications representing the most common cause of death. Fabry disease has a prevalence ranging between 1:8454 to 1:117,000 among men. The higher prevalence included patients with the A143T mutation, which was shown to be a non-disease causing variant. Due to its rarity, and wide array of phenotypic presentations, especially in women, FD is often misdiagnosed. Advances in echocardiographic techniques and magnetic resonance imaging can play a crucial role in raising suspicion for Fabry disease and identifying early Fabry cardiomyopathy. Identification of end-organ involvement can, in turn, permit treatment initiation in patients who did not previously qualify for advanced therapies and in screened family members who are still too early in the disease process to manifest specific symptoms.