{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:47:36Z","timestamp":1782740856351,"version":"3.54.5"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,5,17]]},"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:p>\n                    A male in his 50s initially presented with left ventricular hypertrophy (LVH) identified on transthoracic echocardiogram. He was diagnosed with hypertrophic cardiomyopathy without any further investigations. He later presented in his 70s with decompensated heart failure. A cardiac MRI was performed that demonstrated extensive scarring, and the patient was labelled with a presumptive diagnosis of cardiac amyloidosis. An endomyocardial biopsy demonstrated extensive myocyte hypertrophy and fibrosis but was non-diagnostic in identifying a cause of the LVH. Genetic testing revealed that the patient had a genetic variant in the\n                    <jats:italic>GLA<\/jats:italic>\n                    gene, which encodes for the \u03b1-galactosidase A enzyme that is known to be associated with adult onset of Fabry disease. This case highlights the importance of early incorporation of genetic screening and advanced imaging modalities in patients presenting with LVH.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272375","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:10:38Z","timestamp":1782738638000},"page":"e272375","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Late diagnosis of late onset Fabry disease"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1104-3511","authenticated-orcid":false,"given":"Timothy G","family":"Scully","sequence":"first","affiliation":[{"name":"Cardiology, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Chalinor","sequence":"additional","affiliation":[{"name":"Cardiology, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Theuerle","sequence":"additional","affiliation":[{"name":"Cardiology, Austin Health, Heidelberg, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,6,29]]},"reference":[{"key":"2026062906101387000_19.6.e272375.1","doi-asserted-by":"crossref","DOI":"10.1161\/HCI.0000000000000081","article-title":"State-of-the-Art Imaging of Infiltrative Cardiomyopathies: A Scientific Statement From the American Heart Association","volume":"16","author":"Kottam","year":"2023","journal-title":"Circ Cardiovasc Imaging"},{"key":"2026062906101387000_19.6.e272375.2","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1536\/ihj.16-361","article-title":"Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype","volume":"58","author":"Cs\u00e1nyi","year":"2017","journal-title":"Int 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cardiomyopathy","volume":"36","author":"Militaru","year":"2019","journal-title":"Echocardiography"},{"key":"2026062906101387000_19.6.e272375.6","doi-asserted-by":"crossref","DOI":"10.1186\/s12968-022-00859-z","article-title":"Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis","volume":"24","author":"Ponsiglione","year":"2022","journal-title":"J Cardiovasc Magn Reson"},{"key":"2026062906101387000_19.6.e272375.7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.112.000070"},{"key":"2026062906101387000_19.6.e272375.8","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/j.humpath.2006.01.021","article-title":"Histologic and electron microscopy findings in myocardium of treated Fabry disease","volume":"37","author":"Owens","year":"2006","journal-title":"Hum Pathol"},{"key":"2026062906101387000_19.6.e272375.9","first-page":"77","article-title":"GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry\u2019s Disease?","volume":"113","author":"Chaves-Markman","year":"2019","journal-title":"Arq Bras Cardiol"},{"key":"2026062906101387000_19.6.e272375.10","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10102160","article-title":"High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)","volume":"10","author":"Fan","year":"2021","journal-title":"J Clin Med"},{"key":"2026062906101387000_19.6.e272375.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.06.062"},{"key":"2026062906101387000_19.6.e272375.12","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.jfma.2023.10.004","article-title":"Deciphering the diagnostic dilemma: A comprehensive review of the Taiwanese cardiac variant in Fabry disease","volume":"123","author":"Hwu","year":"2024","journal-title":"J Formos Med Assoc"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T13:10:41Z","timestamp":1782738641000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6,29]]},"published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1136\/bcr-2026-272375"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272375","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]}}}