{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T02:09:33Z","timestamp":1758334173101,"version":"3.44.0"},"reference-count":3,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,8,31]],"date-time":"2025-08-31T00:00:00Z","timestamp":1756598400000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Myocarditis typically presents with chest pain, a raised troponin and is associated with late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR). However, non-resolution of symptoms despite treatment should raise cause for concern that an alternative diagnosis may be present.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 17-year-old gentleman with a background history of developmental delay, gastrointestinal motility issues, retractile testes, and patellar dislocation presented to our emergency department with chest pain. Investigations revealed static mildly elevated troponin T. An electrocardiogram and transthoracic echocardiogram were both unremarkable. CMR revealed sub-endocardial and mid-wall LGE. He was treated as myocarditis with steroids and colchicine, however symptoms persisted and repeat CMR reported progressive LGE. The diagnosis of myocarditis was reconsidered given an atypical presentation and taking into account his past medical history, and so a whole gene exome was performed. This revealed a dual diagnosis of Klinefelter\u2019s Syndrome and a mutation in the dystrophin gene located on the X chromosome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>In this case, an interplay between Klinefelter\u2019s Syndrome and Muscular Dystrophy is demonstrated, potentially protecting our patient against a more aggressive Duchenne phenotype of muscular dystrophy. Upon non-resolution of symptoms, re-evaluating his presentation, investigations and taking into account his background multi-system medical history lead us to performing the genetic testing which revealed the correct diagnosis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaf379","type":"journal-article","created":{"date-parts":[[2025,8,31]],"date-time":"2025-08-31T10:46:48Z","timestamp":1756637208000},"source":"Crossref","is-referenced-by-count":0,"title":["A reconsidered diagnosis in an unresolving myocarditis\u2014a case report"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1575-4264","authenticated-orcid":false,"given":"Bradley","family":"Woolfenden","sequence":"first","affiliation":[{"name":"Tallaght University Hospital, Tallaght , Dublin D24 NR0A ,","place":["Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Cawley","sequence":"additional","affiliation":[{"name":"Tallaght University Hospital, Tallaght , Dublin D24 NR0A ,","place":["Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3583-4641","authenticated-orcid":false,"given":"Deirdre","family":"Ward","sequence":"additional","affiliation":[{"name":"Tallaght University Hospital, Tallaght , Dublin D24 NR0A ,","place":["Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,8,31]]},"reference":[{"key":"2025091917325339300_ytaf379-B1","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/cge.12048","article-title":"Comparison of X-chromosome inactivation in Duchenne muscle\/myocardium-manifesting carriers, non-manifesting carriers and related daughters","volume":"84","author":"Viggiano","year":"2013","journal-title":"Clin Genet"},{"key":"2025091917325339300_ytaf379-B2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40348-020-0093-x","article-title":"Random X chromosome inactivation in patients with Klinefelter syndrome","volume":"7","author":"Kinjo","year":"2020","journal-title":"Mol Cell Pediatr"},{"key":"2025091917325339300_ytaf379-B3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/jmg.26.4.251","article-title":"Becker muscular dystrophy (BMD) and Klinefelter\u2019s syndrome: a possible cause of variable expression of BMD within a pedigree","volume":"26","author":"Suthers","year":"1989","journal-title":"J Med Genet"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/9\/9\/ytaf379\/64140723\/ytaf379.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/9\/9\/ytaf379\/64140723\/ytaf379.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T21:33:01Z","timestamp":1758317581000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytaf379\/8241947"}},"subtitle":[],"editor":[{"given":"Philipp","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"David","family":"Duncker","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Christian","family":"Sohns","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Deepti","family":"Ranganathan","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,8,29]]},"references-count":3,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,8,29]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytaf379","relation":{},"ISSN":["2514-2119"],"issn-type":[{"type":"electronic","value":"2514-2119"}],"subject":[],"published-other":{"date-parts":[[2025,9]]},"published":{"date-parts":[[2025,8,29]]},"article-number":"ytaf379"}}