{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:15Z","timestamp":1756339395702,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,7,28]]},"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:p>We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy and then \u2018burnt-out phase\u2019 of HCM but subsequently the underlying diagnosis was Fabry disease. Fabry disease is an uncommon lysosomal-storage disease due to reduced or absent activity of the alpha-galactosidase A enzyme. Cardiac involvement most frequently comprises left ventricular hypertrophy. Early treatment of the underlying condition with enzyme replacement therapy may prevent the progression to end-stage heart failure. Fabry disease should be considered in all patients presenting with a clinical phenotype of HCM and a historical diagnosis should be re-evaluated in light of new diagnostic tools. Untreated Fabry can progress to a \u2018burnt out\u2019 phase, whereby initial hypertrophy undergoes eccentric remodelling to a dilated, severely impaired left ventricle.<\/jats:p>","DOI":"10.1136\/bcr-2021-243604","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T12:06:38Z","timestamp":1630670798000},"page":"e243604","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Rare presentation of Fabry disease as \u2018burnt-out\u2019 hypertrophic cardiomyopathy"],"prefix":"10.1136","volume":"14","author":[{"given":"Sam","family":"Williams","sequence":"first","affiliation":[{"name":"Division of Cardiology, Bristol Heart Institute, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4419-6693","authenticated-orcid":false,"given":"Ahmed","family":"El-Medany","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Bristol Heart Institute, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angus","family":"Nightingale","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Bristol Heart Institute, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmin","family":"Ismail","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Bristol Heart Institute, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,9,3]]},"reference":[{"key":"2025082701214049000_14.9.e243604.1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.beem.2014.10.003","article-title":"Fabry disease and the heart","volume":"29","author":"Seydelmann","year":"2015","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"doi-asserted-by":"crossref","unstructured":"Fernandez A P et al . Cardiac manifestation of fabry disease; from hypertrophic cardiomypathy to early diagnosis and treatment in patients without LVH. 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Recommendations on the use of echocardiography in adult hypertension. 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