{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T20:05:52Z","timestamp":1783109152058,"version":"3.54.6"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013795","name":"Fujian Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013795","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by heterogeneous clinical manifestations. Cardiac involvement arises from progressive glycosphingolipid accumulation within cardiomyocytes, vascular endothelium, and the conduction system, resulting in left ventricular hypertrophy, conduction abnormalities, and arrhythmias. A subset of patients exhibits electrocardiographic findings that mimic acute myocardial infarction (AMI), often leading to misdiagnosis as ischemic heart disease.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We describe a 62-year-old man presenting with recurrent chest pain and syncope. Initial electrocardiography demonstrated pathological Q waves and ST-segment elevation in the anterior leads. Echocardiography revealed concentric left ventricular hypertrophy. Serial cardiac biomarkers, repeat echocardiography, and coronary angiography excluded AMI. The diagnosis of FD was confirmed by markedly reduced leukocyte \u03b1-galactosidase A activity, elevated plasma lyso-Gb3 concentrations, and identification of a pathogenic hemizygous variant in the GLA gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In patients with unexplained left ventricular hypertrophy and \u201cpseudo-infarction\u201d electrocardiographic patterns, targeted evaluation for FD is warranted to prevent diagnostic delay and enable timely initiation of enzyme replacement therapy (ERT) and multidisciplinary management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fcvm.2026.1727546","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T12:39:17Z","timestamp":1770122357000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge"],"prefix":"10.3389","volume":"13","author":[{"given":"Jin-Mei","family":"Xie","sequence":"first","affiliation":[{"name":"Departments of Electrocardiographic Diagnosis, Cardiovascular Medicine, and Ultrasound Medicine, Sanming First Affiliated Hospital to Fujian Medical University","place":["Sanming, Fujian, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Electrocardiogram, The Second Affiliated Hospital, School of Medicine, Zhejiang University","place":["Hangzhou, China"]},{"name":"State Key Laboratory of Transvascular Implantation Devices","place":["Hangzhou, China"]},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang Province","place":["Hangzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi-Qiang","family":"Xiao","sequence":"additional","affiliation":[{"name":"Departments of Electrocardiographic Diagnosis, Cardiovascular Medicine, and Ultrasound Medicine, Sanming First Affiliated Hospital to Fujian Medical University","place":["Sanming, Fujian, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zong-Jie","family":"Zheng","sequence":"additional","affiliation":[{"name":"Departments of Electrocardiographic Diagnosis, Cardiovascular Medicine, and Ultrasound Medicine, Sanming First Affiliated Hospital to Fujian Medical University","place":["Sanming, Fujian, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s44325-025-00058-6","article-title":"Cardiac manifestations of Fabry disease","volume":"2","author":"Dougherty","year":"2025","journal-title":"NPJ Cardiovasc Health"},{"key":"B2","first-page":"38","article-title":"Cardiac abnormalities in Anderson-Fabry disease and Fabry\u2019s cardiomyopathy","volume":"22","author":"Morrissey","year":"2011","journal-title":"Cardiovasc J Afr"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2058","DOI":"10.1016\/j.jacc.2008.02.046","article-title":"The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy","volume":"51","author":"Kounas","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.1016\/j.jacc.2010.11.018","article-title":"Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry","volume":"57","author":"Patel","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"4434","DOI":"10.3390\/ijms22094434","article-title":"Fabry disease and the heart: a comprehensive review","volume":"22","author":"Azevedo","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B6","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s11604-024-01543-1","article-title":"Coronary computed tomography angiography for clinical practice","volume":"42","author":"Yoshida","year":"2024","journal-title":"Jpn J Radiol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"103074","DOI":"10.1016\/j.cpcardiol.2025.103074","article-title":"Comparative analysis of electrocardiographic patterns of ventricular hypertrophy in cardiac amyloidosis and other cardiomyopathies","volume":"50","author":"Costabel","year":"2025","journal-title":"Curr Probl Cardiol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1001\/jama.2024.12935","article-title":"Diagnosis, risk stratification, and treatment of pericarditis: a review","volume":"332","author":"Cremer","year":"2024","journal-title":"JAMA"},{"key":"B9","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1093\/ehjdh\/ztaf083","article-title":"Artificial intelligence-driven electrocardiogram analysis for risk stratification in pulmonary embolism","volume":"6","author":"Gokhale","year":"2025","journal-title":"Eur Heart J Digit Health"},{"key":"B10","doi-asserted-by":"publisher","first-page":"775","DOI":"10.2459\/jcm.0000000000001665","article-title":"Prognostic significance of electrophysiological study in drug-induced type-1 Brugada syndrome: a brief systematic review","volume":"25","author":"Mascia","year":"2024","journal-title":"J Cardiovasc Med (Hagerstown)"},{"key":"B11","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.ajem.2025.11.018","article-title":"The great imitator: hyperkalemia presenting with paralysis and st segment elevations","volume":"100","author":"Gamboa","year":"2025","journal-title":"Am J Emerg Med"},{"key":"B12","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1159\/000516924","article-title":"A case of a 49-year-old man with nonclassical Fabry disease diagnosed by renal biopsy","volume":"146","author":"Fu","year":"2022","journal-title":"Nephron"},{"key":"B13","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/8904_2015_502","article-title":"Electrical changes in resting, exercise, and Holter electrocardiography in Fabry cardiomyopathy","volume":"28","author":"Kr\u00e4mer","year":"2015","journal-title":"JIMD Rep"},{"key":"B14","doi-asserted-by":"publisher","first-page":"10088","DOI":"10.3390\/ijms221810088","article-title":"Pathogenesis and molecular mechanisms of Anderson-Fabry disease and possible new molecular addressed therapeutic strategies","volume":"22","author":"Tuttolomondo","year":"2021","journal-title":"Int J Mol Sci"},{"key":"B15","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1016\/j.cjca.2017.04.015","article-title":"Clinical features, diagnosis, and management of patients with anderson-fabry cardiomyopathy","volume":"33","author":"Yogasundaram","year":"2017","journal-title":"Can J Cardiol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1518","DOI":"10.1016\/j.jcmg.2022.03.004","article-title":"Coronary microvascular dysfunction is associated with a worse cardiac phenotype in patients with Fabry disease","volume":"15","author":"Graziani","year":"2022","journal-title":"JACC Cardiovasc Imaging"},{"key":"B17","doi-asserted-by":"publisher","first-page":"e009104","DOI":"10.1161\/circimaging.119.009104","article-title":"Massive coronary microvascular dysfunction in severe Anderson-Fabry disease cardiomyopathy","volume":"12","author":"Graziani","year":"2019","journal-title":"Circ Cardiovasc Imaging"},{"key":"B18","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1136\/hrt.2004.054015","article-title":"Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A","volume":"92","author":"Elliott","year":"2006","journal-title":"Heart"},{"key":"B19","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1186\/s13023-022-02392-9","article-title":"Twenty years of the Fabry outcome survey (fos): insights, achievements, and lessons learned from a global patient registry","volume":"17","author":"Beck","year":"2022","journal-title":"Orphanet J Rare Dis"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1727546\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T09:30:50Z","timestamp":1771925450000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1727546\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,3]]},"references-count":19,"alternative-id":["10.3389\/fcvm.2026.1727546"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2026.1727546","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,3]]},"article-number":"1727546"}}