{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T03:58:25Z","timestamp":1709351905784},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T00:00:00Z","timestamp":1586044800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T00:00:00Z","timestamp":1586044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Cardiovasc Disord"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Danon disease (OMIM 300257) is an X-linked lysosomal storage disorder, characterized by hypertrophic cardiomyopathy (HCM), skeletal myopathy, variable intellectual disability, and other minor clinical features.<\/jats:p>\n<jats:p>This condition accounts for ~\u20094% of HCM patients, with a more severe and early onset phenotype in males, causing sudden cardiac death (SCD) in the first three decades of life.<\/jats:p>\n<jats:p>Genetic alterations in the <jats:italic>LAMP2<\/jats:italic> gene are the main cause of this inherited fatal condition. Up to date, more than 100 different pathogenic variants have been reported in the literature. However, the majority of cases are misdiagnosed as HCM or have a delay in the diagnosis.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>Here, we describe a young boy with an early diagnosis of HCM. After 2 episodes of ventricular fibrillation within 2\u2009years, genetic testing identified a novel <jats:italic>LAMP2<\/jats:italic> pathogenic variant. Subsequently, further clinical evaluations showing muscle weakness and mild intellectual disability confirmed the diagnosis of Danon disease.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>This report highlights the role of genetic testing in the rapid diagnosis of Danon disease, underscoring the need to routinely consider the inclusion of <jats:italic>LAMP2<\/jats:italic> gene in the genetic screening for HCM, since an early diagnosis of Danon disease in patients with a phenotype mimicking HCM is essential to plan appropriate treatment, ie cardiac transplantation.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12872-020-01421-4","type":"journal-article","created":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T21:02:41Z","timestamp":1586120561000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report"],"prefix":"10.1186","volume":"20","author":[{"given":"Valeria","family":"Novelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Bisignani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gemma","family":"Pelargonio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Primiano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Lucia","family":"Narducci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco Danilo","family":"Tiziano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Zeppilli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Crea","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Genuardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,4,5]]},"reference":[{"key":"1421_CR1","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1212\/WNL.31.1.51","volume":"31","author":"MJ Danon","year":"1981","unstructured":"Danon MJ, Oh SJ, DiMauro S, Manaligod JR, Eastwood A, Naidu S, Schliselfeld LH. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31:51\u20137.","journal-title":"Neurology"},{"key":"1421_CR2","first-page":"612","volume":"1121","author":"Z Yang","year":"2005","unstructured":"Yang Z, McMahon CJ, Smith LR, Bersola J, Adesina AM, Breinholt JP, Kearney DL, Dreyer WJ, Denfield SW, Price JF, et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation. 2005;1121:612\u20137.","journal-title":"Circulation"},{"key":"1421_CR3","first-page":"135","volume":"47","author":"P Van Der Starre","year":"2013","unstructured":"Van Der Starre P, Deuse T, Pritts C, Brun C, Vogel H, Oyer P. Late profound muscle weakness following heart transplantation due to Danon disease. MuscleNerve. 2013;47:135\u20137.","journal-title":"MuscleNerve"},{"key":"1421_CR4","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1161\/CIRCGENETICS.109.901785","volume":"3","author":"Z Yang","year":"2010","unstructured":"Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Pe\u00f1a LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, et al. LAMP2 microdeletions in patients with Danon disease. Circ Cardiovasc Genet. 2010;3:129\u201337.","journal-title":"Circ Cardiovasc Genet"},{"key":"1421_CR5","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"1421_CR6","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/gim.2014.205","volume":"17","author":"AA Alfares","year":"2015","unstructured":"Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015;17:880\u20138.","journal-title":"Genet Med"},{"key":"1421_CR7","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1038\/s41436-018-0046-0","volume":"21","author":"F Mazzarotto","year":"2019","unstructured":"Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, Coppini R, Tanini I, Bardi S, Contini E, et al. Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. Genet Med. 2019;21:284\u201392.","journal-title":"Genet Med"}],"container-title":["BMC Cardiovascular Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12872-020-01421-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12872-020-01421-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12872-020-01421-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,4]],"date-time":"2021-04-04T23:05:03Z","timestamp":1617577503000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmccardiovascdisord.biomedcentral.com\/articles\/10.1186\/s12872-020-01421-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,5]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1421"],"URL":"https:\/\/doi.org\/10.1186\/s12872-020-01421-4","relation":{},"ISSN":["1471-2261"],"issn-type":[{"value":"1471-2261","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,5]]},"assertion":[{"value":"27 August 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures performed in this research were in accordance with the ethical standards of the 1964 Helsinki declaration. All participants in this report voluntarily agreed to participate and signed written consent. The module of consent for diagnostic genetic testing, including all the info regarding the application of the identified data also for research scope, has been approved by the Legal Department of our Institution.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A written patient consent for publication, including images and other clinical information has been signed by the father of the proband.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare they have no competing interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"156"}}