Fabry disease cardiomyopathy: A practical guide for cardiologists
Recommended Citation
Al Saleh T, Qadeer YK, Yue B, Pieroni M, Hachem KE, Poswar FO, Giugliani R, Vardarli I, Wallace E, Krittanawong C. Fabry disease cardiomyopathy: A practical guide for cardiologists. Curr Probl Cardiol. 2026;51(4):103266.
Document Type
Article
Publication Date
4-1-2026
Publication Title
Current problems in cardiology
Keywords
Humans, Fabry Disease, Cardiomyopathies, Echocardiography, Mutation
Abstract
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.
Medical Subject Headings
Humans; Fabry Disease; Cardiomyopathies; Echocardiography; Mutation
PubMed ID
41544783
Volume
51
Issue
4
First Page
103266
Last Page
103266
