{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T06:46:49Z","timestamp":1768546009391,"version":"3.49.0"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T00:00:00Z","timestamp":1708646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Arrhythmogenic ventricular cardiomyopathy (AVC) is a hereditary cardiomyopathy that has been associated with mutations in genes encoding for components of the cardiac desmosome including desmoglein-2 (DSG-2).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 49-year-old male presented with decompensated heart failure and ventricular arrythmias. A cardiac magnetic resonance scan demonstrated a dilated left ventricle (LV) with severely impaired systolic function and extensive subepicardial late gadolinium enhancement in the lateral wall. An 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) scan identified myocardial uptake consistent with inflammation. Following treatment with steroids for presumed cardiac sarcoidosis, a repeat FDG-PET confirmed resolution of inflammation. A dilated cardiomyopathy\/AVC gene panel, however, subsequently identified a pathogenic variant in the DSG-2 gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>We describe the case of a patient presenting with clinical and imaging features suggestive for cardiac sarcoidosis, however genetic testing established a diagnosis of DSG-2 associated AVC. DSG-2 mutations in AVC are associated with frequent LV involvement and heart failure. Active inflammation has been observed in other cardiomyopathies, specifically in desmoplakin cardiomyopathy which has a similar clinical course to DSG-2. To our knowledge, this is the first case of DSG-2 cardiomyopathy presenting in this manner. We encourage clinicians to have a high index of suspicion of inflammatory cardiomyopathies as a differential to myocarditis and cardiac sarcoidosis, when patients present with evidence of decompensated heart failure, arrhythmias, and active myocardial inflammation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae107","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T20:59:02Z","timestamp":1708721942000},"source":"Crossref","is-referenced-by-count":1,"title":["\u2018The imitation game\u2019: a heart failure case report with a great diagnostic twist"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5106-9011","authenticated-orcid":false,"given":"Ayisha Mehtab","family":"Khan-Kheil","sequence":"first","affiliation":[{"name":"Queen Elizabeth Hospital Birmingham , Mindelsohn Way, B15 2GW Coventry , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5959-6628","authenticated-orcid":false,"given":"Polyvios","family":"Demetriades","sequence":"additional","affiliation":[{"name":"Queen Elizabeth Hospital Birmingham , Mindelsohn Way, B15 2GW Coventry , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5687-2535","authenticated-orcid":false,"given":"Richard P","family":"Steeds","sequence":"additional","affiliation":[{"name":"Queen Elizabeth Hospital Birmingham , Mindelsohn Way, B15 2GW Coventry , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6787-4771","authenticated-orcid":false,"given":"William E","family":"Moody","sequence":"additional","affiliation":[{"name":"Queen Elizabeth Hospital Birmingham , Mindelsohn Way, B15 2GW Coventry , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,2,23]]},"reference":[{"key":"2024032712182469800_ytae107-B1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.4330\/wjc.v6.i4.154","article-title":"Arrhythmogenic ventricular cardiomyopathy: a paradigm shift from right to biventricular disease","volume":"6","author":"Saguner","year":"2014","journal-title":"World J Cardiol"},{"key":"2024032712182469800_ytae107-B2","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s00392-011-0295-2","article-title":"Arrhythmogenic right ventricular cardiomyopathy\/dysplasia: a review and update","volume":"100","author":"Azaouagh","year":"2011","journal-title":"Clin Res Cardiol"},{"key":"2024032712182469800_ytae107-B3","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1161\/CIRCULATIONAHA.105.583674","article-title":"Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy","volume":"113","author":"Pilichou","year":"2006","journal-title":"Circulation"},{"key":"2024032712182469800_ytae107-B4","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/europace\/eur245","article-title":"HRS\/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the heart rhythm society (HRS) and the European heart rhythm association (EHRA)","volume":"13","author":"Ackerman","year":"2011","journal-title":"Europace"},{"key":"2024032712182469800_ytae107-B5","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/eurheartj\/ehr040","article-title":"Prognostic predictors in arrhythmogenic right ventricular cardiomyopathy: results from a 10-year registry","volume":"32","author":"Pinamonti","year":"2011","journal-title":"Eur Heart J"},{"key":"2024032712182469800_ytae107-B6","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1016\/S0735-1097(02)02307-0","article-title":"Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy\/dysplasia reveals a need to broaden diagnostic criteria","volume":"40","author":"Hamid","year":"2002","journal-title":"J Am Coll Cardiol"},{"key":"2024032712182469800_ytae107-B7","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","article-title":"Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy","volume":"71","author":"Rampazzo","year":"2002","journal-title":"Am J Hum Genet"},{"key":"2024032712182469800_ytae107-B8","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1016\/j.hrthm.2006.04.028","article-title":"Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family","volume":"3","author":"Kannankeril","year":"2006","journal-title":"Heart Rhythm"},{"key":"2024032712182469800_ytae107-B9","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1016\/S0735-1097(01)01568-6","article-title":"Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (naxos disease) caused by a deletion in plakoglobin","volume":"38","author":"Protonotarios","year":"2001","journal-title":"J Am Coll Cardiol"},{"key":"2024032712182469800_ytae107-B10","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1093\/eurheartj\/ehl380","article-title":"Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease","volume":"28","author":"Syrris","year":"2007","journal-title":"Eur Heart J"},{"key":"2024032712182469800_ytae107-B11","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ejhf.1423","article-title":"High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"21","author":"Hermida","year":"2019","journal-title":"Eur J Heart Fail"},{"key":"2024032712182469800_ytae107-B12","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1093\/europace\/euaa343","article-title":"Hot phase\u2019 clinical presentation in arrhythmogenic cardiomyopathy","volume":"23","author":"Bariani","year":"2021","journal-title":"Europace"},{"key":"2024032712182469800_ytae107-B13","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1161\/CIRCULATIONAHA.119.044934","article-title":"Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy","volume":"141","author":"Smith","year":"2020","journal-title":"Circulation"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/advance-article-pdf\/doi\/10.1093\/ehjcr\/ytae107\/56749509\/ytae107.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/3\/ytae107\/56983970\/ytae107.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/8\/3\/ytae107\/56983970\/ytae107.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T15:56:03Z","timestamp":1711554963000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytae107\/7613393"}},"subtitle":[],"editor":[{"given":"Amardeep Ghosh","family":"Dastidar","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Emmanouil","family":"Mantzouranis","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Tom","family":"Wardill","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,2,23]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytae107","relation":{},"ISSN":["2514-2119"],"issn-type":[{"value":"2514-2119","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,3]]},"published":{"date-parts":[[2024,2,23]]},"article-number":"ytae107"}}