Author/Editor		Pieroni, Maurizio; Moon, James; Arbustini, Eloisa; Barriales-Villa, Roberto; Camporeale, Antonia; Cokan Vujkovac, Andreja; Elliott, Perry M.; Hagege, Albert; Kuusisto, Johanna; Linhart, Ales; Nordbeck, Peter; Olivotto, Iacopo; Pietilä-Effati, Päivi; Namdar, Mehdi
Title		Cardiac involvement in Fabry disease
Type		članek
Vol. and No.		Letnik 77, št. 7
Publication year		2021
Volume		str. p. 922-936
ISSN		0735-1097 - Journal of the American College of Cardiology
Language		eng
Abstract		Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient %-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving.
Keywords		Fabry disease T1 mapping hypertrophic cardiomyopathy lysosome function Fabryeva bolezen T1 maping hipertrofična kardiomiopatija funkcija lisosoma