{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T10:36:41Z","timestamp":1793702201527,"version":"4.5.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JACC: Heart Failure"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.jchf.2025.102588","type":"journal-article","created":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T01:05:41Z","timestamp":1755824741000},"page":"102588","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Disease Penetrance in Genotype-Positive But Clinically Unaffected Relatives From Families With Dilated Cardiomyopathy"],"prefix":"10.1016","volume":"13","author":[{"given":"Douglas E.","family":"Cannie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasios","family":"Bakalakos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2363-8758","authenticated-orcid":false,"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Lorenzini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Guttmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"O\u2019Mahony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Savvatis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha","family":"Sekhri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saidi","family":"Mohiddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6408-4667","authenticated-orcid":false,"given":"Luis R.","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry M.","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9","key":"10.1016\/j.jchf.2025.102588_bib1","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/jamacardio.2022.2455","article-title":"Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing","volume":"7","author":"Dellefave-Castillo","year":"2022","journal-title":"JAMA Cardiol"},{"issue":"9","key":"10.1016\/j.jchf.2025.102588_bib2","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s11886-022-01727-z","article-title":"Emerging genotype-phenotype associations in dilated cardiomyopathy","volume":"24","author":"Njoroge","year":"2022","journal-title":"Curr Cardiol Rep"},{"issue":"5","key":"10.1016\/j.jchf.2025.102588_bib3","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1001\/jama.2021.24674","article-title":"Prevalence and cumulative risk of familial idiopathic dilated cardiomyopathy","volume":"327","author":"Huggins","year":"2022","journal-title":"JAMA"},{"issue":"20","key":"10.1016\/j.jchf.2025.102588_bib4","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1001\/jama.2013.281053","article-title":"World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects","volume":"310","year":"2013","journal-title":"JAMA"},{"issue":"1","key":"10.1016\/j.jchf.2025.102588_bib5","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence-based assessment of genes in dilated cardiomyopathy","volume":"144","author":"Jordan","year":"2021","journal-title":"Circulation"},{"issue":"37","key":"10.1016\/j.jchf.2025.102588_bib6","doi-asserted-by":"crossref","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"issue":"5","key":"10.1016\/j.jchf.2025.102588_bib7","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.jchf.2025.102588_bib8","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"2","key":"10.1016\/j.jchf.2025.102588_bib9","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap): a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J Biomed Inform"},{"issue":"8","key":"10.1016\/j.jchf.2025.102588_bib10","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1001\/jamacardio.2021.1106","article-title":"Association of left ventricular systolic dysfunction among carriers of truncating variants in filamin C with frequent ventricular arrhythmia and end-stage heart failure","volume":"6","author":"Akhtar","year":"2021","journal-title":"JAMA Cardiol"},{"issue":"15","key":"10.1016\/j.jchf.2025.102588_bib11","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacc.2022.07.023","article-title":"Natural history of MYH7-related dilated cardiomyopathy","volume":"80","author":"de Frutos","year":"2022","journal-title":"J Am Coll Cardiol"},{"issue":"23","key":"10.1016\/j.jchf.2025.102588_bib12","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"},{"issue":"7","key":"10.1016\/j.jchf.2025.102588_bib13","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"},{"issue":"22","key":"10.1016\/j.jchf.2025.102588_bib14","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1136\/heartjnl-2020-316925","article-title":"Establishing reference ranges for ambulatory electrocardiography parameters: meta-analysis","volume":"106","author":"Williams","year":"2020","journal-title":"Heart"},{"issue":"4","key":"10.1016\/j.jchf.2025.102588_bib15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.jacc.2014.12.018","volume":"66","author":"Hicks","year":"2015","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jchf.2025.102588_bib16","article-title":"Python 3 Reference Manual","author":"van Rossum","year":"2009","journal-title":"CreateSpace"},{"issue":"1","key":"10.1016\/j.jchf.2025.102588_bib17","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1093\/jamiaopen\/ooy012","article-title":"Tableone: an open source Python package for producing summary statistics for research papers","volume":"1","author":"Pollard","year":"2018","journal-title":"JAMIA Open"},{"issue":"60","key":"10.1016\/j.jchf.2025.102588_bib18","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.21105\/joss.03021","article-title":"seaborn: statistical data visualization","volume":"6","author":"Waskom","year":"2021","journal-title":"J Open Source Softw"},{"issue":"40","key":"10.1016\/j.jchf.2025.102588_bib19","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.21105\/joss.01317","article-title":"lifelines: survival analysis in Python","volume":"4","author":"Davidson-Pilon","year":"2019","journal-title":"J Open Source Softw"},{"key":"10.1016\/j.jchf.2025.102588_bib20","unstructured":"Zivich P. zEpid. Accessed January 24, 2023. https:\/\/github.com\/pzivich\/zEpid"},{"key":"10.1016\/j.jchf.2025.102588_bib21","author":"Buitinck"},{"key":"10.1016\/j.jchf.2025.102588_bib22","first-page":"1","article-title":"Scikit-survival","volume":"21","author":"P\u00f6lsterl","year":"2020","journal-title":"The Journal of Machine Learning Research"},{"key":"10.1016\/j.jchf.2025.102588_bib23","first-page":"2968","article-title":"A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers","volume":"45(32)","author":"Carrick","year":"2024","journal-title":"Eur Heart J"},{"issue":"11","key":"10.1016\/j.jchf.2025.102588_bib24","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.jchf.2022.07.009","article-title":"Family screening in dilated cardiomyopathy: prevalence, incidence, and potential for limiting follow-up","volume":"10","author":"Vissing","year":"2022","journal-title":"JACC Heart Fail"},{"issue":"17","key":"10.1016\/j.jchf.2025.102588_bib25","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1016\/j.jacc.2024.02.036","article-title":"Penetrance of dilated cardiomyopathy in genotype-positive relatives","volume":"83","author":"Cabrera-Romero","year":"2024","journal-title":"J Am Coll Cardiol"},{"issue":"4","key":"10.1016\/j.jchf.2025.102588_bib26","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1161\/CIRCGENETICS.110.958918","article-title":"Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy","volume":"4","author":"Fatkin","year":"2011","journal-title":"Circ Cardiovasc Genet"},{"issue":"10","key":"10.1016\/j.jchf.2025.102588_bib27","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1002\/ejhf.1216","article-title":"Sex- and age-based differences in the natural history and outcome of dilated cardiomyopathy","volume":"20","author":"Halliday","year":"2018","journal-title":"Eur J Heart Fail"},{"issue":"4","key":"10.1016\/j.jchf.2025.102588_bib28","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1161\/CIRCULATIONAHA.118.039410","article-title":"Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies","volume":"140","author":"Wahbi","year":"2019","journal-title":"Circulation"},{"issue":"6","key":"10.1016\/j.jchf.2025.102588_bib29","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s11886-021-01489-0","article-title":"Role of exercise as a modulating factor in arrhythmogenic cardiomyopathy","volume":"23","author":"Zorzi","year":"2021","journal-title":"Curr Cardiol Rep"},{"issue":"21","key":"10.1016\/j.jchf.2025.102588_bib30","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/j.jacc.2023.03.419","article-title":"Screening for dilated cardiomyopathy in at-risk first-degree relatives","volume":"81","author":"Ni","year":"2023","journal-title":"J Am Coll Cardiol"}],"container-title":["JACC: Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213177925005165?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213177925005165?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T05:38:35Z","timestamp":1760074715000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213177925005165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S2213177925005165"],"URL":"https:\/\/doi.org\/10.1016\/j.jchf.2025.102588","relation":{},"ISSN":["2213-1779"],"issn-type":[{"value":"2213-1779","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Disease Penetrance in Genotype-Positive But Clinically Unaffected Relatives From Families With Dilated Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"JACC: Heart Failure","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jchf.2025.102588","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.","name":"copyright","label":"Copyright"}],"article-number":"102588"}}