Cardiac involvement in Lysosomal Storage Diseases


Article ID: 5600
Vol 34, Issue 4S2, 2020
DOI: https://doi.org/10.54517/jbrha5600
Received: 8 September 2020; Accepted: 8 September 2020; Available online: 8 September 2020; Issue release: 8 September 2020

Abstract

Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates accumulation, with consequent multi systemic clinical presentation. Cardiac disease is particularly important in some group of LSDs as glycogen storage diseases (Pompe), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease and less frequently Gaucher disease). Various cardiac manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease. The availability of enzyme replacement therapy (ERT) has changed the natural history of some LSDs such as Pompe disease, thanks to the significant effects on cardiological involvement. In other LSDs such as MPSs or Fabry disease, ERT has been shown to stabilize or slow the progression of heart damage. This imposes the need for a timely diagnosis that allows a rapid onset of ERT.


Keywords

Lysosomal storage diseases (LSDs);Pompe disease (PD);Mucopolysaccharidoses (MPSs);Anderson-Fabry disease (AFD);Gaucher disease;Enzyme replacement therapy (ERT);Heart;cardiomyopathy;valvular disease


References

Supporting Agencies



Copyright (c) 2020




This site is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).