{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:07:12Z","timestamp":1791234432171,"version":"4.1.0"},"reference-count":56,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T00:00:00Z","timestamp":1692403200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"SANOFI","award":["SGZ-2020-12892"],"award-info":[{"award-number":["SGZ-2020-12892"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Fabry disease (FD) is a lysosomal disorder caused by \u03b1-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide (Gb-3) and its metabolite globotriaosylsphingosine (Lyso-Gb-3). Cardiovascular complications and hypertrophic cardiomyopathy (HCM) are the most frequent manifestations of FD. While an echocardiogram and cardiac MRI are clinical tools to assess cardiac involvement, hypertrophic pattern variations and fibrosis make it crucial to identify biomarkers to predict early cardiac outcomes. This study aims to investigate potential biomarkers associated with HCM in FD: transforming growth factor-\u03b21 (TGF-\u03b21), TGF-\u03b2 active form (a-TGF-\u03b2), vascular endothelial growth factor (VEGF-A), and fibroblast growth factor (FGF2) in 45 patients with FD, categorized into cohorts based on the HCM severity. TGF-\u03b21, a-TGF-\u03b2, FGF2, and VEGF-A were elevated in FD. While the association of TGF-\u03b21 with HCM was not gender-related, VEGF was elevated in males with FD and HCM. Female patients with abnormal electrocardiograms but without overt HCM also have elevated TGF-\u03b21. Lyso-Gb3 is correlated with TGF-\u03b21, VEGF-A, and a-TGF-\u03b21. Elevation of TGF-\u03b21 provides evidence of the chronic inflammatory state as a cause of myocardial fibrosis in FD patients; thus, it is a potential marker of early cardiac fibrosis detected even prior to hypertrophy. TGF-\u03b21 and VEGF biomarkers may be prognostic indicators of adverse cardiovascular events in FD.<\/jats:p>","DOI":"10.3390\/cells12162102","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T01:38:31Z","timestamp":1692581911000},"page":"2102","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Circulated TGF-\u03b21 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-8606","authenticated-orcid":false,"given":"Margarita M.","family":"Ivanova","sequence":"first","affiliation":[{"name":"Lysosomal & Rare Disorders Research and Treatment Center, 3702 Pender Drive, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Dao","sequence":"additional","affiliation":[{"name":"Lysosomal & Rare Disorders Research and Treatment Center, 3702 Pender Drive, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar Abu","family":"Slayeh","sequence":"additional","affiliation":[{"name":"Lysosomal & Rare Disorders Research and Treatment Center, 3702 Pender Drive, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Friedman","sequence":"additional","affiliation":[{"name":"Lysosomal & Rare Disorders Research and Treatment Center, 3702 Pender Drive, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4758-6793","authenticated-orcid":false,"given":"Ozlem","family":"Goker-Alpan","sequence":"additional","affiliation":[{"name":"Lysosomal & Rare Disorders Research and Treatment Center, 3702 Pender Drive, Ste 170, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,19]]},"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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