{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T01:08:03Z","timestamp":1783127283701,"version":"3.54.6"},"reference-count":83,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["2017HTKLRF"],"award-info":[{"award-number":["2017HTKLRF"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007195","name":"Universit\u00e0 degli Studi di Napoli Federico II","doi-asserted-by":"publisher","award":["PROMPTFABRY"],"award-info":[{"award-number":["PROMPTFABRY"]}],"id":[{"id":"10.13039\/100007195","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015362","name":"Amicus Therapeutics","doi-asserted-by":"publisher","award":["GI2019"],"award-info":[{"award-number":["GI2019"]}],"id":[{"id":"10.13039\/100015362","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fabry disease (FD) is a lysosomal storage disorder, depending on defects in alpha-galactosidase A (GAL) activity. At the clinical level, FD shows a high phenotype variability. Among them, cardiovascular dysfunction is often recurrent or, in some cases, is the sole symptom (cardiac variant) representing the leading cause of death in Fabry patients. The existing therapies, besides specific symptomatic treatments, are mainly based on the restoration of GAL activity. Indeed, mutations of the galactosidase alpha gene (GLA) cause a reduction or lack of GAL activity leading to globotriaosylceramide (Gb3) accumulation in several organs. However, several other mechanisms are involved in FD\u2019s development and progression that could become useful targets for therapeutics. This review discusses FD\u2019s cardiovascular phenotype and the last findings on molecular mechanisms that accelerate cardiac cell damage.<\/jats:p>","DOI":"10.3390\/ijms22031331","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T05:53:43Z","timestamp":1611899623000},"page":"1331","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1599-4509","authenticated-orcid":false,"given":"Daniela","family":"Sorriento","sequence":"first","affiliation":[{"name":"Department of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy"},{"name":"Research Center on Hypertension and Related Conditions CIRIAPA, Federico II University, Via Pansini 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8997-835X","authenticated-orcid":false,"given":"Guido","family":"Iaccarino","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy"},{"name":"Research Center on Hypertension and Related Conditions CIRIAPA, Federico II University, Via Pansini 5, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. 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