{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:09:43Z","timestamp":1756382983656},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"39","license":[{"start":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T00:00:00Z","timestamp":1600992000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"Abstract<\/jats:title>\n \n Rationale:<\/jats:title>\n The most common cardiac involvement of Fabry disease (FD) is left ventricular hypertrophy (LVH), which usually occurs in male patients over the age of 30. In rare cases, it can progress to ventricular dilation in the late stage of the disease.<\/jats:p>\n <\/jats:sec>\n \n Patient concerns:<\/jats:title>\n A 16-year-old boy presenting with recurrent extremity pain and chest distress was admitted to our hospital. Imaging examinations revealed ventricular dilation.<\/jats:p>\n <\/jats:sec>\n \n Diagnosis:<\/jats:title>\n \u03b1-Galactosidase A enzyme assay and GLA<\/jats:italic> gene sequencing confirmed the diagnosis of FD and revealed a novel mutation c.76_77insT.<\/jats:p>\n <\/jats:sec>\n \n Interventions:<\/jats:title>\n The patient was treated using metoprolol (23.75\u200amg qd) and angiotensin-converting enzyme inhibitor (fosinopril sodium 5\u200amg qd). He refused enzyme replacement therapy for financial reasons.<\/jats:p>\n <\/jats:sec>\n \n Outcomes:<\/jats:title>\n The echocardiography, electrocardiography, renal function, and routine blood and urine tests performed 20 months after the patients discharge from hospital showed no significant changes. The patient reported a slow and gradual decrease in the frequency and degree of pain and chest distress, starting approximately 24 months after discharge.<\/jats:p>\n <\/jats:sec>\n \n Lessons:<\/jats:title>\n Cardiac involvement of FD can progress rapidly in some cases. Screening for FD should be considered in patients with unexplained ventricular dilation, especially in those with a history of typical FD manifestations.<\/jats:p>\n <\/jats:sec>","DOI":"10.1097\/md.0000000000022326","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T18:10:32Z","timestamp":1600971032000},"page":"e22326","source":"Crossref","is-referenced-by-count":4,"title":["Fabry disease with early-onset ventricular dilation"],"prefix":"10.1097","volume":"99","author":[{"given":"Jia","family":"Tang","sequence":"first","affiliation":[{"name":"Peking Union Medical College Hospital (PUMCH)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Radiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Science (CAMS) and Peking Union Medical College (PUMC), Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,9,25]]},"reference":[{"key":"R1-20230915","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"R2-20230915","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ijcard.2008.03.007","article-title":"Onset and progression of the Anderson-Fabry disease related cardiomyopathy","volume":"130","author":"Kampmann","year":"2008","journal-title":"Int J 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Cardiovas Imaging"},{"key":"R12-20230915","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"}],"container-title":["Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MD.0000000000022326","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T01:39:37Z","timestamp":1694828377000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MD.0000000000022326"}},"subtitle":["A case report"],"short-title":[],"issued":{"date-parts":[[2020,9,25]]},"references-count":12,"journal-issue":{"issue":"39","published-online":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.1097\/md.0000000000022326","relation":{},"ISSN":["0025-7974","1536-5964"],"issn-type":[{"value":"0025-7974","type":"print"},{"value":"1536-5964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,25]]}}}