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
Manuscripts should be submitted via our online editorial system at https://imr.propub.com by registering and logging in to this website. Once you are registered, click here to start your submission. Manuscripts can be submitted now or up until the deadline. All papers will go through peer-review process. Accepted papers will be published in the journal (as soon as accepted) and meanwhile listed together on the special issue website. Research articles, reviews as well as short communications are preferred. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office to announce on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts will be thoroughly refereed through a double-blind peer-review process. Please visit the Instruction for Authors page before submitting a manuscript. The Article Processing Charge (APC) in this open access journal is 2200 USD. Submitted manuscripts should be well formatted in good English.
- Echocardiography in Anderson-Fabry DiseaseRosa Lillo, Maurizio Pieroni, Antonia Camporeale, Michele Ciabatti, ... Francesca GrazianiRev. Cardiovasc. Med. 2022, 23(6), 201; https://doi.org/10.31083/j.rcm2306201347Downloads3Citations624Views
- Fabry Disease Cardiomyopathy: A Review of the Role of Cardiac Imaging from Diagnosis to TreatmentLaura Fuertes Kenneally, María Isabel García-Álvarez, Eloísa Feliu Rey, Ana García Barrios, Vicente Climent-PayáRev. Cardiovasc. Med. 2022, 23(6), 192; https://doi.org/10.31083/j.rcm2306192309Downloads418Views
- The Heart in Fabry Disease: Mechanisms Beyond Storage and Forthcoming TherapiesMaurizio Pieroni, Michele Ciabatti, Francesca Graziani, Antonia Camporeale, ... Leonardo BologneseRev. Cardiovasc. Med. 2022, 23(6), 196; https://doi.org/10.31083/j.rcm2306196163Downloads4Citations370Views
- Cardiac Magnetic Resonance Features of Fabry Disease: From Early Diagnosis to Prognostic StratificationAntonia Camporeale, Alberto Diano, Lara Tondi, Silvia Pica, ... Massimo LombardiRev. Cardiovasc. Med. 2022, 23(5), 177; https://doi.org/10.31083/j.rcm2305177166Downloads520Views