{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:45:12Z","timestamp":1783694712251,"version":"3.55.0"},"reference-count":10,"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-nc\/4.0\/"}],"funder":[{"name":"Project for Disciplines of Excellence"},{"DOI":"10.13039\/501100013365","name":"West China Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013365","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004912","name":"Sichuan University","doi-asserted-by":"publisher","award":["ZYJC18003"],"award-info":[{"award-number":["ZYJC18003"]}],"id":[{"id":"10.13039\/501100004912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018542","name":"Natural Science Foundation of Sichuan Province","doi-asserted-by":"publisher","award":["23NSFSC4589"],"award-info":[{"award-number":["23NSFSC4589"]}],"id":[{"id":"10.13039\/501100018542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82202248"],"award-info":[{"award-number":["82202248"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"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>Glycogen storage disease (GSD) type \u2162a is a rare autosomal recessive disorder resulting in the accumulation of abnormally structured glycogen in the liver, skeletal muscle, and cardiac muscle. Cardiovascular magnetic resonance (CMR) tissue characteristics in GSD have rarely been reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We report a 24-year-old male patient suffering from recurrent palpitation and atypical chest pain for 5 years with suspected hypertrophic cardiomyopathy. Laboratory tests revealed an elevated creatine kinase, and physical exam revealed hepatosplenomegaly. Cardiovascular magnetic resonance demonstrated asymmetrical massive left ventricular hypertrophy with a maximal thickness of 34.6\u2005mm in the septum. In the regions with focal late gadolinium enhancement (LGE) in the anterior septum, both native T1 and extracellular volume (ECV) are elevated. However, in the LGE-negative regions of the myocardium, native T1 was elevated without elevation in ECV (septum, 22.7%; free wall, 20.9%). Whole exome sequencing revealed a novel pathogenic homozygous nonsense variant of the AGL gene (c.4284\u2005T &amp;gt; G, p. Tyr1428*), confirming the diagnosis of the patients as GSD type \u2162a.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>This case showed increased diffuse native T1 but not ECV on CMR in LGE-negative myocardium in GSD, which indicates that the T1 value is increased with an accumulation of glycogen in the myocardium, but the ECV space was not expanded in this process. Genetic testing should be obtained in severe LV hypertrophy when multi-organ involvement is present, and myocardial tissue characterization is discrepant between T1 elevation and normal ECV to consider glycogen storage disorder.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad458","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T10:17:59Z","timestamp":1694427479000},"source":"Crossref","is-referenced-by-count":4,"title":["Glycogen storage disease with massive left ventricular hypertrophy and increased native T1: a case report"],"prefix":"10.1093","volume":"7","author":[{"given":"Jie","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University , Chengdu, Sichuan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutong","family":"Pu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University , Chengdu, Sichuan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchi","family":"Han","sequence":"additional","affiliation":[{"name":"Wexner Medical Center, College of Medicine, The Ohio State University , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0601-8039","authenticated-orcid":false,"given":"Yucheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University , Chengdu, Sichuan , China"},{"name":"Center of Rare Diseases, West China Hospital, Sichuan University , Chengdu, Sichuan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,9,11]]},"reference":[{"key":"2023092221574613200_ytad458-B1","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1097\/GIM.0b013e3181e655b6","article-title":"Glycogen storage disease type III diagnosis and management guidelines","volume":"12","author":"Kishnani","year":"2010","journal-title":"Genet Med"},{"key":"2023092221574613200_ytad458-B2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1093\/ejechocard\/jer231","article-title":"Type III glycogen storage disease mimicking hypertrophic cardiomyopathy","volume":"13","author":"Salemi","year":"2012","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"2023092221574613200_ytad458-B3","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1161\/01.CIR.0000050691.73932.CB","article-title":"Images in cardiovascular medicine. 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