{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T19:41:47Z","timestamp":1791315707360,"version":"4.3.1"},"reference-count":29,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"University College London Hospitals NIHR Biomedical Research Centre"},{"DOI":"10.13039\/100015652","name":"Barts Charity","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015652","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims\u2003<\/jats:title>\n                    <jats:p>Myocardial scar detected by cardiovascular magnetic resonance has been associated with sudden cardiac death in dilated cardiomyopathy (DCM). Certain genetic causes of DCM may cause a malignant arrhythmogenic phenotype. The concepts of arrhythmogenic left ventricular (LV) cardiomyopathy (ALVC) and arrhythmogenic DCM are currently ill-defined. We hypothesized that a distinctive imaging phenotype defines ALVC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results\u2003<\/jats:title>\n                    <jats:p>Eighty-nine patients with DCM-associated mutations [desmoplakin (DSP) n\u2009=\u200925, filamin C (FLNC) n\u2009=\u20097, titin n\u2009=\u200930, lamin A\/C n\u2009=\u200912, bcl2-associated athanogene 3 n\u2009=\u20093, RNA binding motif protein 20 n\u2009=\u20093, cardiac sodium channel NAv1.5 n\u2009=\u20092, and sarcomeric genes n\u2009=\u20097] were comprehensively phenotyped. Clustering analysis resulted in two groups: \u2018DSP\/FLNC genotypes\u2019 and \u2018non-DSP\/FLNC\u2019. There were no significant differences in age, sex, symptoms, baseline electrocardiography, arrhythmia burden, or ventricular volumes between the two groups. Subepicardial LV late gadolinium enhancement with ring-like pattern (at least three contiguous segments in the same short-axis slice) was observed in 78.1% of DSP\/FLNC genotypes but was absent in the other DCM genotypes (P\u2009&lt;\u20090.001). Left ventricular ejection fraction (LVEF) and global longitudinal strain were lower in other DCM genotypes (P\u2009=\u20090.053 and P\u2009=\u20090.015, respectively), but LV regional wall motion abnormalities were more common in DSP\/FLNC genotypes (P\u2009&lt;\u20090.001). DSP\/FLNC patients with non-sustained ventricular tachycardia (NSVT) had more LV scar (P\u2009=\u20090.010), whereas other DCM genotypes patients with NSVT had lower LVEF (P\u2009=\u20090.001) than patients without NSVT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>DSP\/FLNC genotypes cause more regionality in LV impairment. The most defining characteristic is a subepicardial ring-like scar pattern in DSP\/FLNC, which should be considered in future diagnostic criteria for ALVC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjci\/jez188","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T14:13:59Z","timestamp":1561472039000},"source":"Crossref","is-referenced-by-count":73,"title":["Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0040-5270","authenticated-orcid":false,"given":"Jo\u00e3o B","family":"Augusto","sequence":"first","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Eiros","sequence":"additional","affiliation":[{"name":"Cardiovascular Imaging Unit, Hospital Universitario La Paz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Nakou","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Moura-Ferreira","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital do Divino Esp\u00edrito Santo, Ponta Delgada, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A","family":"Treibel","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Captur","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"},{"name":"NIHR University College London Hospitals, Biomedical Research Center, Tottenham Court Road, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed M","family":"Akhtar","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D","family":"Gossios","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Savvatis","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saidi","family":"Mohiddin","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"William Harvey Research Institute, Queen Mary University of London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C","family":"Moon","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"},{"name":"NIHR University College London Hospitals, Biomedical Research Center, Tottenham Court Road, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry M","family":"Elliott","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6408-4667","authenticated-orcid":false,"given":"Luis R","family":"Lopes","sequence":"additional","affiliation":[{"name":"Barts Heart Centre, St Bartholomew's Hospital, London, UK"},{"name":"Institute of Cardiovascular Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,7,16]]},"reference":[{"key":"2019080505043171100_jez188-B1","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC)","volume":"36","author":"Priori","year":"2015","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-B2","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1056\/NEJMoa1608029","article-title":"Defibrillator implantation in patients with nonischemic systolic heart failure","volume":"375","author":"K\u00f8ber","year":"2016","journal-title":"N Engl J Med"},{"key":"2019080505043171100_jez188-B3","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.hlc.2018.09.010","article-title":"Arrhythmic genotypes in familial dilated cardiomyopathy: implications for genetic testing and clinical management","volume":"28","author":"Peters","year":"2019","journal-title":"Heart Lung Circ"},{"key":"2019080505043171100_jez188-B4","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1093\/cvr\/cvy122","article-title":"Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology","volume":"114","author":"Bondue","year":"2018","journal-title":"Cardiovasc Res"},{"key":"2019080505043171100_jez188-B5","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1093\/eurheartj\/ehv727","article-title":"Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases","volume":"37","author":"Pinto","year":"2016","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-B6","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1161\/CIRCRESAHA.116.309396","article-title":"Dilated cardiomyopathy: genetic determinants and mechanisms","volume":"121","author":"McNally","year":"2017","journal-title":"Circ Res"},{"key":"2019080505043171100_jez188-B7","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ijcard.2016.09.068","article-title":"Genetic basis of dilated cardiomyopathy","volume":"224","author":"P\u00e9rez-Serra","year":"2016","journal-title":"Int J Cardiol"},{"key":"2019080505043171100_jez188-B8","doi-asserted-by":"crossref","first-page":"e002149","DOI":"10.1161\/JAHA.115.002149","article-title":"Arrhythmogenic phenotype in dilated cardiomyopathy: natural history and predictors of life-threatening arrhythmias","volume":"4","author":"Spezzacatene","year":"2015","journal-title":"J Am Heart Assoc"},{"key":"2019080505043171100_jez188-B9","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/eurheartj\/ehu509","article-title":"Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia\/cardiomyopathy-associated mutation carriers","volume":"36","author":"Bhonsale","year":"2015","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-B10","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies","volume":"68","author":"Ortiz-Genga","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"2019080505043171100_jez188-B11","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/eurheartj\/ehq025","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the Task Force Criteria","volume":"31","author":"Marcus","year":"2010","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-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":"2019080505043171100_jez188-B13","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1016\/j.jacc.2013.01.073","article-title":"Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians","volume":"61","author":"Marcus","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"2019080505043171100_jez188-B14","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1093\/cvr\/cvx150","article-title":"Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis","volume":"113","author":"Hoorntje","year":"2017","journal-title":"Cardiovasc Res"},{"key":"2019080505043171100_jez188-B15","doi-asserted-by":"crossref","DOI":"10.1016\/j.jcmg.2018.07.015","article-title":"Outcome in dilated cardiomyopathy related to the extent, location, and pattern of late gadolinium enhancement","author":"Halliday","year":"2018","journal-title":"JACC Cardiovasc Imaging"},{"key":"2019080505043171100_jez188-B16","doi-asserted-by":"crossref","first-page":"18.","DOI":"10.1186\/s12968-017-0327-9","article-title":"Reference ranges for cardiac structure and function using cardiovascular magnetic resonance (CMR) in Caucasians from the UK Biobank population cohort","volume":"19","author":"Petersen","year":"2017","journal-title":"J Cardiovasc Magn Reson"},{"key":"2019080505043171100_jez188-B17","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","article-title":"Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","author":"Elliott","year":"2007","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-B18","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":"2019080505043171100_jez188-B19","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1111\/cge.13043","article-title":"Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy","volume":"92","author":"Janin","year":"2017","journal-title":"Clin Genet"},{"key":"2019080505043171100_jez188-B20","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1016\/j.jacc.2017.08.063","article-title":"Phenotype and clinical outcomes of titin cardiomyopathy","volume":"70","author":"Tayal","year":"2017","journal-title":"J Am Coll Cardiol"},{"key":"2019080505043171100_jez188-B21","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1161\/CIRCULATIONAHA.117.031947","article-title":"RBM20 mutations induce an arrhythmogenic dilated cardiomyopathy related to disturbed calcium handling","volume":"138","author":"van den Hoogenhof","year":"2018","journal-title":"Circulation"},{"key":"2019080505043171100_jez188-B22","doi-asserted-by":"crossref","first-page":"30.","DOI":"10.1186\/1532-429X-13-30","article-title":"Late gadolinium enhanced cardiovascular magnetic resonance of lamin A\/C gene mutation related dilated cardiomyopathy","volume":"13","author":"Holmstr\u00f6m","year":"2011","journal-title":"J Cardiovasc Magn Reson"},{"key":"2019080505043171100_jez188-B23","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1093\/eurheartj\/ehx596","article-title":"Lamin A\/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation","volume":"39","author":"Hasselberg","year":"2018","journal-title":"Eur Heart J"},{"key":"2019080505043171100_jez188-B24","doi-asserted-by":"crossref","first-page":"e42037","DOI":"10.1371\/journal.pone.0042037","article-title":"SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility","volume":"7","author":"van Hoorn","year":"2012","journal-title":"PLoS One"},{"key":"2019080505043171100_jez188-B25","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s10741-018-9671-6","article-title":"Prophylactic use of the implantable cardioverter-defibrillator and its effect on the long-term survival, cardiovascular and sudden cardiac death in nonischemic cardiomyopathy patients-a systematic review and meta-analysis","volume":"23","author":"Siddiqui","year":"2018","journal-title":"Heart Fail Rev"},{"key":"2019080505043171100_jez188-B26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jacc.2011.08.078","article-title":". Risk factors for malignant ventricular arrhythmias in lamin A\/C mutation carriers a European cohort study","volume":"59","author":"van Rijsingen","year":"2012","journal-title":". J Am Coll Cardiol"},{"key":"2019080505043171100_jez188-B27","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1001\/jama.2013.1363","article-title":"Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy","volume":"309","author":"Gulati","year":"2013","journal-title":"JAMA"},{"key":"2019080505043171100_jez188-B28","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/europace\/eut291","article-title":"Risk prediction of ventricular arrhythmias and myocardial function in Lamin A\/C mutation positive subjects","volume":"16","author":"Hasselberg","year":"2014","journal-title":"Europace"},{"key":"2019080505043171100_jez188-B29","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/ehjci\/jew229","article-title":"Comprehensive multi-modality imaging approach in arrhythmogenic cardiomyopathy-an expert consensus document of the European Association of Cardiovascular Imaging","volume":"18","author":"Haugaa","year":"2017","journal-title":"Eur Heart J Cardiovasc Imaging"}],"container-title":["European Heart Journal - Cardiovascular Imaging"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ehjcimaging\/advance-article-pdf\/doi\/10.1093\/ehjci\/jez188\/29098545\/jez188.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"}],"deposited":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T10:37:08Z","timestamp":1590057428000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcimaging\/advance-article\/doi\/10.1093\/ehjci\/jez188\/5533094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,16]]},"references-count":29,"URL":"https:\/\/doi.org\/10.1093\/ehjci\/jez188","relation":{},"ISSN":["2047-2404","2047-2412"],"issn-type":[{"value":"2047-2404","type":"print"},{"value":"2047-2412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,16]]},"article-number":"jez188"}}