Article
Fabry disease cardiomyopathy: A state-of-the-art review.
Progress in cardiovascular diseases - 1 Jan 2025
Pande Shivangi, Varzideh Fahimeh, Gambardella Jessica, Jankauskas Stanislovas S, Cerasuolo Federica Andrea, Spinelli Letizia, Kansakar Urna, De Luca Antonio, Kurland Irwin J, Sidoli Simone, Iaccarino Guido, Sadoshima Junichi, Santulli Gaetano
Abstract excerpt
Fabry disease or Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA), leading to systemic accumulation of globotriaosyl-ceramide (Gb3). Initially described in 1898 as a dermatological condition, Fabry disease is now recognized as a progressive multisystem disorder with significant cardiac involvement. Cardiomyopathy in Fabry disease arises from Gb3...
Topics
- Humans
- Fabry Disease
- Cardiomyopathies
- Enzyme Replacement Therapy
- Prognosis
- Phenotype
- alpha-Galactosidase
- Ventricular Function, Left
- Genetic Predisposition to Disease
- Genetic Testing