{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:37Z","timestamp":1753890877551,"version":"3.41.2"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T00:00:00Z","timestamp":1732233600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"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 inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction. The clinical manifestations of FD are diverse and non-specific. In the present study, we report a case initially treated as obstructive hypertrophic cardiomyopathy for several years, which was finally identified as FD through whole-exome sequencing (WES). The patient, diagnosed with obstructive hypertrophic cardiomyopathy, underwent left ventricular outflow tract surgery before visiting our hospital. WES was proposed by our cardiomyopathy center and, unexpectedly, a mutation [c.595T&amp;gt;C (p.Val199Met)] in exon 4 of the GLA gene was identified. A subsequent analysis of plasma \u03b1-galactosidase and globotriaosylsphingosine levels confirmed the diagnosis of FD. Although enzyme replacement therapy (ERT) was initiated immediately after diagnosis, the patient experienced aortic valve damage and left heart enlargement 2\u2005years later. Subsequently, the patient underwent transcatheter aortic valve replacement. This case implies that FD should be considered a potential cause in patients with unexplained left ventricular hypertrophy. Delayed initiation of ERT may compromise its efficacy.<\/jats:p>","DOI":"10.3389\/fcvm.2024.1479374","type":"journal-article","created":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T06:17:47Z","timestamp":1732256267000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement 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