{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:01:36Z","timestamp":1790625696659,"version":"4.1.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Diagnosis of arrhythmogenic cardiomyopathy (ACM) may be challenging, as it comprises diverse phenotypes (right dominant, biventricular, and left dominant), and each may overlap with other clinical entities. The issue of differential diagnosis with conditions mimicking ACM has been previously highlighted; however, a systematic analysis of ACM diagnostic delay, and of its clinical implications, is lacking.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>Data of all ACM patients from three Italian Cardiomyopathy Referral Centres were reviewed to assess the time from first medical contact to definitive ACM diagnosis; a significant diagnostic delay was defined as a time to ACM diagnosis \u22652 years. Baseline characteristics and clinical course of patients with and without diagnostic delay were compared. Of 174 ACM patients, 31% experienced diagnostic delay, with a median time to diagnosis of 8 years (20% in right-dominant ACM, 33% in left-dominant ACM, and 39% in biventricular). Patients with diagnostic delay, when compared with those without, more frequently exhibited an ACM phenotype with left ventricular (LV) involvement (74 vs. 57%, P = 0.04) and a specific genetic background (none had plakophilin-2 variants). The most common initial (mis)diagnoses were dilated cardiomyopathy (51%), myocarditis (21%), and idiopathic ventricular arrhythmia (9%). At follow-up, all-cause mortality was greater in those with diagnostic delay (P = 0.03).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Diagnostic delay is common in patients with ACM, particularly in the presence of LV involvement, and is associated with greater mortality at follow-up. Clinical suspicion and increasing use of tissue characterization by cardiac magnetic resonance in specific clinical settings are of key importance for the timely identification of ACM.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/eurjpc\/zwad058","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T12:18:40Z","timestamp":1677241120000},"page":"1315-1322","source":"Crossref","is-referenced-by-count":11,"title":["Diagnostic delay in arrhythmogenic cardiomyopathy"],"prefix":"10.1093","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8520-152X","authenticated-orcid":false,"given":"Giacomo","family":"Tini","sequence":"first","affiliation":[{"name":"Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University, Via di Grottarossa 1035-1039, 00189 , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maddalena","family":"Graziosi","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138 , Bologna , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University, Via di Grottarossa 1035-1039, 00189 , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Targetti","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Largo Giovanni Alessandro Brambilla 3, 50134 , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domitilla","family":"Russo","sequence":"additional","affiliation":[{"name":"Cardiology, Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University, Via di Grottarossa 1035-1039, 00189 , Rome , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanda","family":"Parisi","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138 , Bologna , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6394-9948","authenticated-orcid":false,"given":"Alessia","family":"Argir\u00f2","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Largo Giovanni Alessandro Brambilla 3, 50134 , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaello","family":"Ditaranto","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138 , Bologna , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6412-3294","authenticated-orcid":false,"given":"Ornella","family":"Leone","sequence":"additional","affiliation":[{"name":"Pathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138 , Bologna , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camillo","family":"Autore","sequence":"additional","affiliation":[{"name":"San Raffaele Cassino (FR) , Via Gaetano di Biasio 1, 03043 Cassino , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1751-9266","authenticated-orcid":false,"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, Largo Giovanni Alessandro Brambilla 3, 50134 , Florence , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-0440","authenticated-orcid":false,"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[{"name":"Cardiology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138 , Bologna , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,2,27]]},"reference":[{"key":"2023092217532218800_zwad058-B1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1056\/NEJMra1509267","article-title":"Arrhythmogenic right ventricular cardiomyopathy","volume":"376","author":"Corrado","year":"2017","journal-title":"N Engl J Med"},{"key":"2023092217532218800_zwad058-B2","doi-asserted-by":"crossref","DOI":"10.1136\/heartjnl-2021-319113","article-title":"Arrhythmogenic right ventricular cardiomyopathy: a focused update on diagnosis and risk stratification","author":"Bosman","year":"2022","journal-title":"Heart"},{"key":"2023092217532218800_zwad058-B3","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1093\/eurheartj\/ehz669","article-title":"Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis","volume":"41","author":"Corrado","year":"2020","journal-title":"Eur Heart J"},{"key":"2023092217532218800_zwad058-B4","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.ijcard.2020.06.005","article-title":"Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria","volume":"319","author":"Corrado","year":"2020","journal-title":"Int J Cardiol"},{"key":"2023092217532218800_zwad058-B5","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.hrthm.2017.02.013","article-title":"Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia patients with late presentation","volume":"14","author":"Bhonsale","year":"2017","journal-title":"Heart Rhythm"},{"key":"2023092217532218800_zwad058-B6","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"},{"key":"2023092217532218800_zwad058-B7","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCGENETICS.110.937805","article-title":"Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy","volume":"3","author":"Elliott","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"key":"2023092217532218800_zwad058-B8","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1136\/hrt.2011.227967","article-title":"Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study","volume":"97","author":"Garcia-Pavia","year":"2011","journal-title":"Heart"},{"key":"2023092217532218800_zwad058-B9","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCULATIONAHA.108.840827","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the task force criteria","volume":"121","author":"Marcus","year":"2010","journal-title":"Circulation"},{"key":"2023092217532218800_zwad058-B10","article-title":"Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study","author":"Augusto","year":"2020","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"2023092217532218800_zwad058-B11","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.119.014628","article-title":"Arrhythmogenic right ventricular cardiomyopathy: characterization of left ventricular phenotype and differential diagnosis with dilated cardiomyopathy","volume":"9","author":"Cipriani","year":"2020","journal-title":"J Am Heart Assoc"},{"key":"2023092217532218800_zwad058-B12","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1016\/j.jacc.2008.09.019","article-title":"Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity","volume":"52","author":"Sen-Chowdhry","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"2023092217532218800_zwad058-B13","doi-asserted-by":"crossref","DOI":"10.1136\/openhrt-2021-001914","article-title":"Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy","volume":"9","author":"Graziosi","year":"2022","journal-title":"Open Heart"},{"key":"2023092217532218800_zwad058-B14","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1161\/CIRCULATIONAHA.118.037230","article-title":"Sudden death and left ventricular involvement in arrhythmogenic cardiomyopathy","volume":"139","author":"Miles","year":"2019","journal-title":"Circulation"},{"key":"2023092217532218800_zwad058-B15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2459\/JCM.0000000000000589","article-title":"Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications","volume":"19","author":"Girolami","year":"2018","journal-title":"J Cardiovasc Med"},{"key":"2023092217532218800_zwad058-B16","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1016\/S0735-1097(97)00332-X","article-title":"Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: a multicenter study","volume":"30","author":"Corrado","year":"1997","journal-title":"J Am Coll Cardiol"},{"key":"2023092217532218800_zwad058-B17","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1136\/hrt.71.3.215","article-title":"Diagnosis of arrhythmogenic right ventricular dysplasia\/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology","volume":"71","author":"McKenna","year":"1994","journal-title":"Br Heart J"},{"key":"2023092217532218800_zwad058-B18","doi-asserted-by":"crossref","first-page":"e373","DOI":"10.1016\/j.hrthm.2019.09.019","article-title":"2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: executive summary","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm"},{"key":"2023092217532218800_zwad058-B19","doi-asserted-by":"crossref","first-page":"927","DOI":"10.2459\/JCM.0000000000001050","article-title":"Management of nonischemic-dilated cardiomyopathies in clinical practice: a position paper of the working group on myocardial and pericardial diseases of Italian Society of Cardiology","volume":"21","author":"Merlo","year":"2020","journal-title":"J Cardiovasc Med (Hagerstown)"},{"key":"2023092217532218800_zwad058-B20","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":"2023092217532218800_zwad058-B21","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1016\/j.jacc.2020.04.023","article-title":"Prognostic value of magnetic resonance phenotype in patients with arrhythmogenic right ventricular cardiomyopathy","volume":"75","author":"Aquaro","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"2023092217532218800_zwad058-B22","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1161\/CIRCULATIONAHA.106.660241","article-title":"Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia\/cardiomyopathy provides novel insights into patterns of disease expression","volume":"115","author":"Sen-Chowdhry","year":"2007","journal-title":"Circulation"},{"key":"2023092217532218800_zwad058-B23","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/ejhf.1914","article-title":"Contemporary survival trends and aetiological characterization in non-ischaemic dilated cardiomyopathy","volume":"22","author":"Merlo","year":"2020","journal-title":"Eur J Heart Fail"},{"key":"2023092217532218800_zwad058-B24","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1002\/ejhf.1534","article-title":"Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report","volume":"21","author":"Elliott","year":"2019","journal-title":"Eur J Heart Fail"},{"key":"2023092217532218800_zwad058-B25","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.amjcard.2020.12.090","article-title":"Arrhythmogenic right ventricular cardiomyopathy presenting as clinical myocarditis in women","volume":"145","author":"Scheel","year":"2021","journal-title":"Am J Cardiol"},{"key":"2023092217532218800_zwad058-B26","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1002\/ehf2.12686","article-title":"Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies","volume":"7","author":"Piriou","year":"2020","journal-title":"ESC Heart Fail"},{"key":"2023092217532218800_zwad058-B27","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1016\/j.jchf.2022.06.013","article-title":"Acute myocarditis associated with desmosomal gene variants","volume":"10","author":"Ammirati","year":"2022","journal-title":"JACC Heart Fail"},{"key":"2023092217532218800_zwad058-B28","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1161\/CIRCULATIONAHA.120.047640","article-title":"Prognostic value of nonischemic ringlike left ventricular scar in patients with apparently idiopathic nonsustained ventricular arrhythmias","volume":"143","author":"Muser","year":"2021","journal-title":"Circulation"},{"key":"2023092217532218800_zwad058-B29","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1093\/eurheartj\/ehs397","article-title":"Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases","volume":"34","author":"Rapezzi","year":"2013","journal-title":"Eur Heart J"}],"container-title":["European Journal of Preventive Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/eurjpc\/advance-article-pdf\/doi\/10.1093\/eurjpc\/zwad058\/49524351\/zwad058.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/30\/13\/1315\/51717242\/zwad058.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjpc\/article-pdf\/30\/13\/1315\/51717242\/zwad058.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T17:54:22Z","timestamp":1695405262000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjpc\/article\/30\/13\/1315\/7059127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,27]]},"references-count":29,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2023,2,27]]},"published-print":{"date-parts":[[2023,9,20]]}},"URL":"https:\/\/doi.org\/10.1093\/eurjpc\/zwad058","relation":{},"ISSN":["2047-4873","2047-4881"],"issn-type":[{"value":"2047-4873","type":"print"},{"value":"2047-4881","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,9]]},"published":{"date-parts":[[2023,2,27]]}}}