{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T14:05:50Z","timestamp":1771941950308,"version":"3.50.1"},"reference-count":8,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T00:00:00Z","timestamp":1771891200000},"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:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Danon disease is a rare X-linked dominant lysosomal storage disorder caused by lysosome-associated membrane protein 2 (LAMP2) deficiency. Female carriers demonstrate highly variable penetrance, and neurological manifestations are under-recognized, which delays diagnosis and targeted management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A 27-year-old woman presented with sudden-onset left-sided weakness that resolved within three weeks. Initial magnetic resonance imaging demonstrated a right basal ganglia infarction with distal right middle cerebral artery narrowing, and she received dual antiplatelet therapy and statins. When she was referred for etiologic evaluation, physical and neurological examinations were unremarkable, yet N-terminal pro-B-type natriuretic peptide and cardiac troponin I levels were elevated. Transthoracic echocardiography revealed left ventricular dilation with global hypokinesia (ejection fraction 30%). Right heart contrast echocardiography excluded patent foramen ovale, whereas 24\u2005h Holter monitoring captured frequent atrial and ventricular ectopy with short ventricular tachycardia runs. Cardiac magnetic resonance showed markedly reduced systolic function (left ventricular ejection fraction 21%) and mid-wall late gadolinium enhancement, while myocardial perfusion imaging confirmed global hypoperfusion. Whole-exome sequencing identified a heterozygous LAMP2 frameshift variant (c.1079_1083delGAAAG; p.Gly360Valfs*11), which was validated by Sanger sequencing. Cascade testing revealed a hemizygous carrier son and wild-type parents. She was treated with contemporary heart failure therapy, oral dabigatran for presumed cardioembolic stroke, and listed for heart transplantation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case underscores that Danon disease in women may initially mimic cryptogenic stroke. Multimodality cardiac imaging combined with genetic analysis is crucial for recognizing atypical presentations and guiding anticipatory heart failure management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fcvm.2026.1735648","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T13:20:57Z","timestamp":1771939257000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Danon disease presenting with transient stroke-like weakness in a young woman: a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Jiao","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaokai","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lixia","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaoyao","family":"Ruan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinhua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qizhi","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Quzhou Affiliated Hospital of Wenzhou Medical University (People\u2019s Hospital of Quzhou)","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1161\/CIRCHEARTFAILURE.114.001105","article-title":"Danon disease: clinical features, evaluation, and management","volume":"7","author":"D\u2019Souza","year":"2014","journal-title":"Circ Heart Fail"},{"key":"B2","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1097\/GIM.0b013e31820ad795","article-title":"Natural history of Danon disease","volume":"13","author":"Boucek","year":"2011","journal-title":"Genet Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.mam.2006.08.005","article-title":"Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy","volume":"27","author":"Eskelinen","year":"2006","journal-title":"Mol Aspects Med"},{"key":"B4","first-page":"326","article-title":"Female Danon disease: selective cardiomyopathy with conduction abnormalities and normal intellectual development","volume":"58","author":"Sugie","year":"2002","journal-title":"Neurology"},{"key":"B5","doi-asserted-by":"publisher","first-page":"ytad237","DOI":"10.1093\/ehjcr\/ytad237","article-title":"Danon disease in a Sardinian family: different aspects of the same mutation\u2014a case report","volume":"7","author":"Pasqualucci","year":"2023","journal-title":"Eur Heart J Case Rep"},{"key":"B6","first-page":"2282","article-title":"Cardiac magnetic resonance characteristics in Danon disease","volume":"13","author":"Gilotra","year":"2020","journal-title":"JACC Cardiovasc Imaging"},{"key":"B7","first-page":"e003202","article-title":"Clinical and genetic spectrum of 80 mainland Chinese patients with Danon disease","volume":"14","author":"Cheng","year":"2021","journal-title":"Circ Genom Precis Med"},{"key":"B8","first-page":"1198425","article-title":"Emerging gene and cell therapies for Danon disease","volume":"10","author":"Haston","year":"2023","journal-title":"Front Cardiovasc Med"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1735648\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T13:20:58Z","timestamp":1771939258000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2026.1735648\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,24]]},"references-count":8,"alternative-id":["10.3389\/fcvm.2026.1735648"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2026.1735648","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,24]]},"article-number":"1735648"}}