{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T04:02:18Z","timestamp":1781236938224,"version":"3.54.1"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,5,20]]},"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>We describe a patient with Fabry disease (FD) who initially presented with atrial fibrillation without left ventricular hypertrophy (LVH) 14 years before being correctly diagnosed with FD. In the interim, he survived a myocardial infarction complicated by ventricular fibrillation, and his severe LVH was misdiagnosed as sarcomeric hypertrophic cardiomyopathy. In the following 4 years, he developed proteinuric kidney disease, neuropathy, sensorineural hearing loss and gastrointestinal symptoms. The patient was eventually readmitted for an overt heart failure (HF) exacerbation and was seen by an HF cardiologist. The constellation of systemic findings led to further diagnostic testing, including an endomyocardial biopsy, tests to determine alpha-galactosidase A enzyme activity and \u03b1-galactosidase A gene (GLA) analysis. The results of the patient\u2019s tests were consistent with FD and he was started on enzyme replacement therapy. To our knowledge, this is the first detailed description of a late-onset phenotype of FD with c.146 G&gt;C\u2009GLA variant. In addition, this case serves as a potent reminder to pay meticulous attention to \u2018red flags\u2019 accompanying LVH.<\/jats:p>","DOI":"10.1136\/bcr-2021-247917","type":"journal-article","created":{"date-parts":[[2022,6,9]],"date-time":"2022-06-09T12:25:18Z","timestamp":1654777518000},"page":"e247917","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Late-onset Fabry disease: the cardiac sequela"],"prefix":"10.1136","volume":"15","author":[{"given":"John","family":"Tremblay","sequence":"first","affiliation":[{"name":"Internal Medicine, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Philbin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Beers","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Lightle","sequence":"additional","affiliation":[{"name":"Department of Pathology, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitri","family":"Belov","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Albany Medical Center, Albany, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,6,9]]},"reference":[{"key":"2025082803252653000_15.6.e247917.1","first-page":"38","article-title":"Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy","volume":"22","author":"Morrissey","year":"2011","journal-title":"Cardiovasc J Afr"},{"key":"2025082803252653000_15.6.e247917.2","unstructured":"Linhart A . The heart in Fabry disease. In: Mehta A , Beck M , Sunder-Plassmann G , eds. Fabry disease: perspectives from 5 years of Fos. Oxford, 2006."},{"key":"2025082803252653000_15.6.e247917.3","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1163","article-title":"Global research on Fabry's disease: demands for a rare disease","volume":"8","author":"Klingelh\u00f6fer","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2025082803252653000_15.6.e247917.4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.2147\/TACG.S146022","article-title":"Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations","volume":"12","author":"Oliveira","year":"2019","journal-title":"Appl Clin Genet"},{"key":"2025082803252653000_15.6.e247917.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.048"},{"key":"2025082803252653000_15.6.e247917.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.11.070"},{"key":"2025082803252653000_15.6.e247917.7","doi-asserted-by":"crossref","DOI":"10.1002\/humu.1219","article-title":"Fabry disease: 20 novel Gla mutations in 35 families","volume":"18","author":"Blaydon","year":"2001","journal-title":"Hum Mutat"},{"key":"2025082803252653000_15.6.e247917.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ehj.2003.09.017"},{"key":"2025082803252653000_15.6.e247917.9","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.794529"},{"key":"2025082803252653000_15.6.e247917.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2005.11.087"},{"key":"2025082803252653000_15.6.e247917.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2005.05.033"},{"key":"2025082803252653000_15.6.e247917.12","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1002\/ejhf.1960","article-title":"An expert consensus document on the management of cardiovascular manifestations of Fabry disease","volume":"22","author":"Linhart","year":"2020","journal-title":"Eur J Heart Fail"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-247917","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:25:34Z","timestamp":1756376734000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-247917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,6,9]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1136\/bcr-2021-247917"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-247917","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6]]}}}