Dear Colleagues,

 

This special issue of Reviews in Cardiovascular Medicine will focus on “Cardiac involvement in patients with Fabry disease”. Fabry disease is a rare, X-linked, inherited lysosomal storage disorder caused by pathogenic variants in the GLA gene, leading to deficiency of the α-galactosidase A enzyme activity. The enzymatic deficit causes accumulation of lysosomal glycosphingolipids in cells of affected tissues, including all the cardiac cellular types. Fabry cardiomyopathy manifests as left ventricular hypertrophy mimicking hypertrophic cardiomyopathy.
Following the introduction of disease-specific enzyme replacement therapy, early diagnosis and treatment have become crucial to slow disease progression and prevent major organ damage. Advances in cardiac imaging together with the development of new therapies, including chaperone molecules, modified enzymes, substrate reduction therapy, and genetic treatments, are rapidly improving the diagnostic and therapeutic approach to cardiac Fabry disease.
The aim of this Special Issue is to provide the readers with a comprehensive overview on state-of-the-art knowledge about pathophysiology, cardiac imaging and biomarkers, treatment, and prognosis of Fabry cardiomyopathy.
We are therefore looking forward to receiving your review articles or or full research paperS on this topic.
A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page.

 

Dr. Maurizio Pieroni

Guest Editor