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
Manuscript Submission Information
Manuscripts should be submitted online at https://rcm.imrpress.org by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a double-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on theInstructions for Authorspage. Reviews in Cardiovascular Medicine is an international peer-reviewed open access quarterly journal published by IMR Press.