{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:50:38Z","timestamp":1753876238814,"version":"3.41.2"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T00:00:00Z","timestamp":1694390400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Lysosomal storage diseases (LSDs) are rare, progressive, multi-organ disorders caused by inherited enzyme deficiencies. Gaucher\u2019s disease (GD) is the most prevalent form of LSDs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 19-year-old Caucasian male presented with exertional dyspnoea. Physical examination revealed a Grade III\/VI systolic diamond murmur at the heart base and a Grade IV\/VI systolic murmur at the apex. Electrocardiogram showed signs of left ventricular hypertrophy (LVH). Trans-thoracic echocardiography (TTE) and trans-oesophageal echocardiography (TEE) demonstrated moderate LVH, severe aortic valve stenosis, severe supra-valvular aortic stenosis, and moderate mitral stenosis with severe degenerative mitral valve regurgitation. Bone marrow biopsy and aspiration confirmed the presence of characteristic Gaucher's cells. The patient underwent the Bentall procedure and mitral valve replacement and was discharged in good condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Gaucher\u2019s disease exhibits three clinical phenotypes, and cardiovascular involvement is commonly seen in GD Type III. Valvular calcification and ascending aorta involvement are frequent cardiovascular manifestations. Although severe valvular heart involvement is rare in GD, cardiac valve surgery has shown favourable outcomes in previous studies and our case.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad456","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T10:08:36Z","timestamp":1694426916000},"source":"Crossref","is-referenced-by-count":0,"title":["Extensive cardiovascular involvement in a young boy with Gaucher\u2019s disease: a case report"],"prefix":"10.1093","volume":"7","author":[{"given":"Mohammadreza","family":"Naderian","sequence":"first","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences , North Kargar Street, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8606-2381","authenticated-orcid":false,"given":"Hamid","family":"Khederlou","sequence":"additional","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences , North Kargar Street, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2927-3742","authenticated-orcid":false,"given":"Ali","family":"Hosseinsabet","sequence":"additional","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences , North Kargar Street, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mojtaba","family":"Salarifar","sequence":"additional","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences , North Kargar Street, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,9,11]]},"reference":[{"key":"2023092602565186900_ytad456-B1","article-title":"Left ventricular hypertrophy in Fabry\u2019s disease in an old male patient","volume":"1","author":"Firuzi","year":"2020","journal-title":"Int J Card Pract"},{"issue":"Suppl","key":"2023092602565186900_ytad456-B2","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/j.ejim.2006.07.005","article-title":"Epidemiology and natural history of Gaucher\u2019s disease","volume":"17","author":"Mehta","year":"2006","journal-title":"Eur J Intern Med"},{"key":"2023092602565186900_ytad456-B3","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1515\/jpem-2018-0549","article-title":"Two siblings with Gaucher type 3c: different clinical presentations","volume":"32","author":"Karakoyun","year":"2019","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2023092602565186900_ytad456-B4","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.3390\/cells9081902","article-title":"Highlights on genomics applications for lysosomal storage diseases","volume":"9","author":"La Cognata","year":"2020","journal-title":"Cells"},{"key":"2023092602565186900_ytad456-B5","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1017\/S1047951117000579","article-title":"Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature","volume":"27","author":"K\u00f6r","year":"2017","journal-title":"Cardiol Young"},{"key":"2023092602565186900_ytad456-B6","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1212\/WNL.54.1.261","article-title":"Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)","volume":"54","author":"Bohlega","year":"2000","journal-title":"Neurology"},{"key":"2023092602565186900_ytad456-B7","doi-asserted-by":"crossref","first-page":"E26","DOI":"10.1002\/clc.20348","article-title":"Gaucher disease with communicating hydrocephalus and cardiac involvement","volume":"33","author":"Cindik","year":"2010","journal-title":"Clin Cardiol"},{"key":"2023092602565186900_ytad456-B8","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1159\/000064674","article-title":"Cardiac structural involvement in mucopolysaccharidoses","volume":"98","author":"Rigante","year":"2002","journal-title":"Cardiology"},{"key":"2023092602565186900_ytad456-B9","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/0006-291X(65)90743-6","article-title":"Metabolism of glucocerebrosides II. 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