{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:49:11Z","timestamp":1753890551935,"version":"3.41.2"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"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><jats:title>Introduction<\/jats:title><jats:p>Danon disease is an X-linked disorder caused by pathogenic variants in lysosome-associated membrane protein 2 (<jats:italic>LAMP2<\/jats:italic>) gene, typically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. However, many patients may not present the typical presentation, especially in the early stage. Electrocardiogram (ECG) abnormalities can be found in almost all patients, with Wolff\u2013Parkinson\u2013White (WPW) syndrome being the most common. We reported the case of a 51-year-old woman who experienced multiple types of arrhythmias over three decades and was diagnosed with Danon disease late by genetic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case summary<\/jats:title><jats:p>A 51-year-old woman with a 36-year history of intermittent palpitations was admitted due to hemodynamically stable ventricular tachycardia (VT). Her past medical history revealed multiple arrhythmias and ECG abnormalities in her 30s and 40s, including WPW syndrome with paroxysmal supraventricular tachycardia, paroxysmal atrial flutter, atrial fibrillation, ventricular tachycardia, and complete left bundle branch block. She denied any family history of cardiovascular disease or sudden death. Upon arrival, her vital signs were unremarkable. Cardiovascular magnetic resonance (CMR) imaging revealed left ventricular enlargement and late gadolinium enhancement (LGE) in the anterior, inferior, and lateral walls. Subsequent, whole-exome sequencing (WES) gene testing revealed a pathogenic heterozygous variant in <jats:italic>LAMP2<\/jats:italic> gene (c.696T&amp;gt;A; p.Cys232Ter), which confirmed the diagnosis of Danon disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic testing should be considered in patients who display multiple arrhythmias with LV structural abnormalities of unknown etiology for a possible Danon disease.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2024.1369680","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T04:55:20Z","timestamp":1711601720000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Multiple types of arrhythmias in a late-confirmed Danon disease"],"prefix":"10.3389","volume":"11","author":[{"given":"Nan","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"B1","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":"B2","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":"B3","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1111\/nan.12587","article-title":"Review: Danon disease: review of natural history and recent advances","volume":"46","author":"Cenacchi","year":"2020","journal-title":"Neuropathol Appl Neurobiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.ijcard.2019.01.020","article-title":"Danon disease: gender differences in presentation and outcomes","volume":"286","author":"Brambatti","year":"2019","journal-title":"Int J Cardiol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1628","DOI":"10.1016\/j.jacc.2023.08.014","article-title":"International consensus on differential diagnosis and management of patients with Danon disease: JACC state-of-the-art review","volume":"82","author":"Hong","year":"2023","journal-title":"J Am Coll Cardiol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/j.rec.2018.04.035","article-title":"Clinical findings and prognosis of Danon disease. An analysis of the Spanish Multicenter Danon Registry","volume":"72","author":"L\u00f3pez-Sainz","year":"2019","journal-title":"Rev Esp Cardiol (Engl Ed)"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e003117","DOI":"10.1161\/CIRCGEN.120.003117","article-title":"Clinical profile of cardiac involvement in Danon disease: a multicenter European registry","volume":"13","author":"Lotan","year":"2020","journal-title":"Circ Genom Precis Med"},{"key":"B8","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1212\/wnl.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acid maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s00401-015-1385-4","article-title":"Danon disease: a phenotypic expression of LAMP-2 deficiency","volume":"129","author":"Endo","year":"2015","journal-title":"Acta Neuropathol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.tcm.2021.10.012","article-title":"Clinical features of Danon disease and insights gained from LAMP-2 deficiency models","volume":"33","author":"Zhai","year":"2023","journal-title":"Trends Cardiovasc Med"},{"key":"B11","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1093\/eurheartj\/ehr420","article-title":"Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy","volume":"33","author":"Cheng","year":"2012","journal-title":"Eur Heart J"},{"key":"B12","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1148\/radiol.2021203996","article-title":"Cardiac phenotype characterization at MRI in patients with Danon disease: a retrospective multicenter case series","volume":"299","author":"Wei","year":"2021","journal-title":"Radiology"},{"key":"B13","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1016\/j.jcmg.2020.08.011","article-title":"Cardiac magnetic resonance imaging in Danon disease cardiomyopathy","volume":"14","author":"Rigolli","year":"2021","journal-title":"JACC Cardiovasc Imaging"},{"key":"B14","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1002\/ajmg.a.61571","article-title":"Wolff\u2013Parkinson\u2013White syndrome: de novo variants and evidence for mutational burden in genes associated with atrial fibrillation","volume":"182","author":"Coban-Akdemir","year":"2020","journal-title":"Am J Med Genet A"},{"key":"B15","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.amjcard.2011.09.024","article-title":"Sudden death associated with Danon disease in women","volume":"109","author":"Miani","year":"2012","journal-title":"Am J Cardiol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1001\/jama.2009.371","article-title":"Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy","volume":"301","author":"Maron","year":"2009","journal-title":"JAMA"},{"year":"","key":"B17"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2024.1369680\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T04:55:29Z","timestamp":1711601729000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2024.1369680\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,28]]},"references-count":17,"alternative-id":["10.3389\/fcvm.2024.1369680"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2024.1369680","relation":{},"ISSN":["2297-055X"],"issn-type":[{"type":"electronic","value":"2297-055X"}],"subject":[],"published":{"date-parts":[[2024,3,28]]},"article-number":"1369680"}}