{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:52:57Z","timestamp":1790016777060,"version":"4.0.1"},"reference-count":112,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:00:00Z","timestamp":1614297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM) is a leading cause of heart failure and life-threatening ventricular arrhythmias (LTVA). Work-up and risk stratification of DCM is clinically challenging, as there is great heterogeneity in phenotype and genotype. Throughout the last decade, improved genetic testing of patients has identified genotype\u2013phenotype associations and enhanced evaluation of at-risk relatives leading to better patient prognosis. The field is now ripe to explore opportunities to improve personalised risk assessments. Multivariable risk models presented as \u201crisk calculators\u201d can incorporate a multitude of clinical variables and predict outcome (such as heart failure hospitalisations or LTVA). In addition, genetic risk scores derived from genome\/exome-wide association studies can estimate an individual\u2019s lifetime genetic risk of developing DCM. The use of clinically granular investigations, such as late gadolinium enhancement on cardiac magnetic resonance imaging, is warranted in order to increase predictive performance. To this end, constructing big data infrastructures improves accessibility of data by using electronic health records, existing research databases, and disease registries. By applying methods such as machine and deep learning, we can model complex interactions, identify new phenotype clusters, and perform prognostic modelling. This review aims to provide an overview of the evolution of DCM definitions as well as its clinical work-up and considerations in the era of genomics. In addition, we present exciting examples in the field of big data infrastructures, personalised prognostic assessment, and artificial intelligence.<\/jats:p>","DOI":"10.3390\/jcm10050921","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T09:47:20Z","timestamp":1614332840000},"page":"921","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Diagnosis and Risk Prediction of Dilated Cardiomyopathy in the Era of Big Data and Genomics"],"prefix":"10.3390","volume":"10","author":[{"given":"Arjan","family":"Sammani","sequence":"first","affiliation":[{"name":"Department of Cardiology, Division Heart &amp; Lungs, University Medical Center Utrecht, Utrecht University, 3582 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette F.","family":"Baas","sequence":"additional","affiliation":[{"name":"Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, University of Utrecht, 3582 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1692-8669","authenticated-orcid":false,"given":"Folkert W.","family":"Asselbergs","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart &amp; Lungs, University Medical Center Utrecht, Utrecht University, 3582 CX Utrecht, The Netherlands"},{"name":"Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London WC1E 6BT, UK"},{"name":"Health Data Research UK and Institute of Health Informatics, University College London, London WC1E 6BT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4694-4790","authenticated-orcid":false,"given":"Anneline S. J. M.","family":"te Riele","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Division Heart &amp; Lungs, University Medical Center Utrecht, Utrecht University, 3582 CX Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1161\/CIRCRESAHA.117.309711","article-title":"Classification, Epidemiology, and Global Burden of Cardiomyopathies","volume":"121","author":"McKenna","year":"2017","journal-title":"Circ. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: The complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e001753","DOI":"10.1161\/CIRCGEN.117.001753","article-title":"Chemotherapy-Related Cardiac Dysfunction: A Systematic Review of Genetic Variants Modulating Individual Risk","volume":"11","author":"Linschoten","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1016\/j.jacc.2018.03.462","article-title":"Genetic Etiology for Alcohol-Induced Cardiac Toxicity","volume":"71","author":"Ware","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_5","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":"ref_6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s40959-020-00079-3","article-title":"Early- and late anthracycline-induced cardiac dysfunction: Echocardiographic characterization and response to heart failure therapy","volume":"6","author":"Kamphuis","year":"2020","journal-title":"Cardio-Oncology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1093\/eurheartj\/ehw128","article-title":"2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure","volume":"37","author":"Ponikowski","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1002\/ehf2.12689","article-title":"Predicting sustained ventricular arrhythmias in dilated cardiomyopathy: A meta-analysis and systematic review","volume":"7","author":"Sammani","year":"2020","journal-title":"ESC Heart Fail."},{"key":"ref_9","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":"ref_10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/978-3-319-44203-7_5","article-title":"Dilated cardiomyopathy","volume":"390","author":"Jansweijer","year":"2016","journal-title":"Clin. Cardiogenetics Second Ed."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/gim.2013.204","article-title":"The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing","volume":"16","author":"Pugh","year":"2014","journal-title":"Genet. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.jacep.2017.12.003","article-title":"Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell\u2013Cell Adhesion Structures","volume":"4","author":"Begay","year":"2018","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00392-016-1033-6","article-title":"Genotype-phenotype associations in dilated cardiomyopathy: Meta-analysis on more than 8000 individuals","volume":"106","author":"Kayvanpour","year":"2017","journal-title":"Clin. Res. Cardiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.2459\/JCM.0000000000000368","article-title":"Improving the appropriateness of sudden arrhythmic death primary prevention by implantable cardioverter-defibrillator therapy in patients with low left ventricular ejection fraction. Point of view","volume":"17","author":"Disertori","year":"2016","journal-title":"J. Cardiovasc. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1007\/s12471-019-1288-4","article-title":"UNRAVEL: Big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking","volume":"27","author":"Sammani","year":"2019","journal-title":"Neth. Heart J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1016\/j.jacc.2017.03.571","article-title":"Artificial Intelligence in Precision Cardiovascular Medicine","volume":"69","author":"Krittanawong","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"146","DOI":"10.15420\/aer.2020.26","article-title":"Big Data and Artificial Intelligence: Opportunities and Threats in Electrophysiology","volume":"9","author":"Leur","year":"2020","journal-title":"Arrhythmia Electrophysiol. Rev."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Alyass, A., Turcotte, M., and Meyre, D. (2015). From big data analysis to personalized medicine for all: Challenges and opportunities. BMC Med. Genom., 8.","DOI":"10.1186\/s12920-015-0108-y"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1056\/NEJMp1606181","article-title":"Predicting the Future\u2014Big Data, Machine Learning, and Clinical Medicine","volume":"375","author":"Obermeyer","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1136\/hrt.11.1.68","article-title":"Familial cardiomegaly","volume":"11","author":"Evans","year":"1949","journal-title":"Br. Heart J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1161\/01.CIR.24.3.599","article-title":"Familial idiopathic cardiomegaly","volume":"24","author":"Schrader","year":"1961","journal-title":"Circulation"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functio","volume":"113","author":"Maron","year":"2006","journal-title":"Circulation"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1093\/eurheartj\/ehm585","article-title":"Revisiting definition and classification of cardiomyopathies in the era of molecular medicine","volume":"29","author":"Thiene","year":"2008","journal-title":"Eur. Heart J."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2046","DOI":"10.1016\/j.jacc.2013.08.1644","article-title":"The MOGE(S) Classification for a Phenotype\u2013Genotype Nomenclature of Cardiomyopathy","volume":"62","author":"Arbustini","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_25","unstructured":"Rubi\u015b, P. (2019, December 15). The Diagnostic Work-up of Genetic and Inflammatory Dilated Cardiomyopathy. Available online: https:\/\/www.escardio.org\/Journals\/E-Journal-of-Cardiology-Practice\/Volume-13\/The-diagnostic-work-up-of-genetic-and-inflammatory-dilated-cardiomyopathy."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Spezzacatene, A., Sinagra, G., Merlo, M., Barbati, G., Graw, S.L., Brun, F., Slavov, D., Di Lenarda, A., Salcedo, E.E., and Towbin, J.A. (2015). Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias. J. Am. Heart Assoc., 4.","DOI":"10.1161\/JAHA.115.002149"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Zegkos, T., Panagiotidis, T., Parcharidou, D., and Efthimiadis, G. (2020). Emerging concepts in arrhythmogenic dilated cardiomyopathy. Heart Fail. Rev.","DOI":"10.1007\/s10741-020-09933-z"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1016\/j.jacc.2008.09.019","article-title":"Left-Dominant Arrhythmogenic Cardiomyopathy","volume":"52","author":"Syrris","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/S0140-6736(10)60061-X","article-title":"Chagas disease","volume":"375","author":"Rassi","year":"2010","journal-title":"Lancet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1136\/heartjnl-2013-304539","article-title":"Clinical use of multimodality imaging in the assessment of dilated cardiomyopathy","volume":"101","author":"Marques","year":"2015","journal-title":"Heart"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1161\/CIRCULATIONAHA.105.589663","article-title":"Diagnosis of Myocarditis","volume":"113","author":"Baughman","year":"2006","journal-title":"Circulation"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1016\/j.jacc.2007.09.008","article-title":"The Role of Endomyocardial Biopsy in the Management of Cardiovascular Disease","volume":"50","author":"Cooper","year":"2007","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/ejhf.255","article-title":"A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes","volume":"17","author":"Harakalova","year":"2015","journal-title":"Eur. J. Heart Fail."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e1419","DOI":"10.1002\/wsbm.1419","article-title":"Systems analysis of dilated cardiomyopathy in the next generation sequencing era","volume":"10","author":"Harakalova","year":"2018","journal-title":"Wiley Interdiscip. Rev. Syst. Biol. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1038\/s41436-018-0267-2","article-title":"Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons learned and plans for the future","volume":"21","author":"Milko","year":"2019","journal-title":"Genet. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1161\/CIRCGEN.119.002480","article-title":"Variant interpretation for dilated cardiomyopathy","volume":"13","author":"Morales","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Asselbergs, F.W., Sammani, A., Elliott, P., Gimeno, J.R., Tavazzi, L., Tendera, M., Kaski, J.P., Maggioni, A.P., Rubis, P.P., and Jurcut, R. (2020). Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry. ESC Hear. Fail., ehf2.13100.","DOI":"10.1002\/ehf2.13100"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1093\/eurjhf\/hft013","article-title":"Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: Overview of 10 years\u2019 experience","volume":"15","author":"Post","year":"2013","journal-title":"Eur. J. Heart Fail."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/s41436-018-0084-7","article-title":"Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy","volume":"21","author":"Minoche","year":"2019","journal-title":"Genet. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of Titin Causing Dilated Cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1097\/HCO.0000000000000382","article-title":"Titin-truncating mutations in dilated cardiomyopathy","volume":"32","author":"Fatkin","year":"2017","journal-title":"Curr. Opin. Cardiol."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Akinrinade, O., Koskenvuo, J.W., and Alastalo, T.P. (2015). Prevalence of titin truncating variants in general population. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0145284"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1505517","article-title":"Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies","volume":"374","author":"Ware","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_44","first-page":"496","article-title":"Clinical phenotypes and prognosis of dilated cardiomyopathy caused by truncating variants in the TTN Gene","volume":"13","author":"Akhtar","year":"2020","journal-title":"Circ. Hear. Fail."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e002436","DOI":"10.1161\/CIRCGEN.118.002436","article-title":"Mortality Risk Associated With Truncating Founder Mutations in Titin","volume":"12","author":"Jansen","year":"2019","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1016\/j.jacc.2019.06.072","article-title":"Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy","volume":"74","author":"Gigli","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ejhf.673","article-title":"Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy","volume":"19","author":"Jansweijer","year":"2017","journal-title":"Eur. J. Heart Fail."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"e196520","DOI":"10.1001\/jamanetworkopen.2019.6520","article-title":"Association of Titin-Truncating Genetic Variants with Life-threatening Cardiac Arrhythmias in Patients with Dilated Cardiomyopathy and Implanted Defibrillators","volume":"2","author":"Corden","year":"2019","journal-title":"JAMA Netw. Open"},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Franaszczyk, M., Chmielewski, P., Truszkowska, G., Stawinski, P., Michalak, E., Rydzanicz, M., Sobieszczanska-Malek, M., Pollak, A., Szczygie\u0142, J., and Kosinska, J. (2017). Titin truncating variants in dilated cardiomyopathy\u2014Prevalence and genotype-phenotype correlations. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0169007"},{"key":"ref_50","doi-asserted-by":"crossref","unstructured":"Hoorntje, E.T., Bollen, I.A., Barge-Schaapveld, D.Q., Van Tienen, F.H., Te Meerman, G.J., Jansweijer, J.A., Van Essen, A.J., Volders, P.G., Constantinescu, A.A., and Van Den Akker, P.C. (2017). Lamin A\/C -Related Cardiac Disease: Late Onset with a Variable and Mild Phenotype in a Large Cohort of Patients with the Lamin A\/C p.(Arg331Gln) Founder Mutation. Circ. Cardiovasc. Genet., 10.","DOI":"10.1161\/CIRCGENETICS.116.001631"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1161\/CIRCGENETICS.113.000374","article-title":"Outcome in phospholamban R14del carriers results of a large multicentre cohort study","volume":"7","author":"Groeneweg","year":"2014","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1007\/s11897-020-00475-x","article-title":"New Insights in RBM20 Cardiomyopathy","volume":"17","author":"Lennermann","year":"2020","journal-title":"Curr. Heart Fail. Rep."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1111\/his.12963","article-title":"Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation","volume":"69","author":"Vink","year":"2016","journal-title":"Histopathology"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s11936-017-0520-z","article-title":"Lamin A\/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies","volume":"19","author":"Wang","year":"2017","journal-title":"Curr. Treat. Options Cardiovasc. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations","volume":"72","author":"Cuenca","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1172\/JCI62862","article-title":"Genetic mutations and mechanisms in dilated cardiomyopathy","volume":"123","author":"McNally","year":"2013","journal-title":"J. Clin. Invest."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/j.jacc.2011.01.015","article-title":"Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy","volume":"57","author":"Hershberger","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41572-019-0084-1","article-title":"Dilated cardiomyopathy","volume":"5","author":"Schultheiss","year":"2019","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1038\/s41467-020-15823-7","article-title":"Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy","volume":"11","author":"Pirruccello","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Garnier, S., Harakalova, M., Weiss, S., Mokry, M., Regitz-Zagrosek, V., Hengstenberg, C., Cappola, T., Isnard, R., Arbustini, E., and Cook, S. (2020). Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23. bioRxiv.","DOI":"10.1016\/j.acvdsp.2020.10.107"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1093\/eurheartj\/eht251","article-title":"A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy","volume":"35","author":"Meder","year":"2014","journal-title":"Eur. Heart J."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Esslinger, U., Garnier, S., Korniat, A., Proust, C., Kararigas, G., M\u00fcller-Nurasyid, M., Empana, J.P., Morley, M.P., Perret, C., and Stark, K. (2017). Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0172995"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1093\/eurheartj\/ehr105","article-title":"A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy","volume":"32","author":"Villard","year":"2011","journal-title":"Eur. Heart J."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Tadros, R., Francis, C., Xu, X., Vermeer, A.M.C., Harper, A.R., Huurman, R., Kelu Bisabu, K., Walsh, R., Hoorntje, E.T., and te Rijdt, W.P. (2021). Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat. Genet.","DOI":"10.1161\/circ.142.suppl_3.16685"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13073-020-00742-5","article-title":"Polygenic risk scores: From research tools to clinical instruments","volume":"12","author":"Lewis","year":"2020","journal-title":"Genome Med."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1056\/NEJM199412083312307","article-title":"Idiopathic Dilated Cardiomyopathy","volume":"331","author":"Dec","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1253\/circj.CJ-14-0939","article-title":"Improved long-term prognosis of dilated cardiomyopathy with implementation of evidenced-based medication: Report from the CHART studies","volume":"79","author":"Ushigome","year":"2015","journal-title":"Circ. J."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/s12471-017-0969-0","article-title":"Thirty years of heart transplantation at the university medical centre Utrecht","volume":"25","author":"Sammani","year":"2017","journal-title":"Neth. Hear. J."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s12968-018-0466-7","article-title":"Prognostic value of myocardial strain and late gadolinium enhancement on cardiovascular magnetic resonance imaging in patients with idiopathic dilated cardiomyopathy with moderate to severely reduced ejection fraction","volume":"20","author":"Pi","year":"2018","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"S214","DOI":"10.1111\/j.1540-8159.2008.02286.x","article-title":"Predictors of mortality and hospitalization for cardiac causes in patients with heart failure and nonischemic heart disease: A subanalysis of the ALPHA study","volume":"32","author":"Anselmino","year":"2009","journal-title":"PACE-Pacing Clin. Electrophysiol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1161\/CIRCULATIONAHA.105.584102","article-title":"The Seattle Heart Failure Model: Prediction of survival in heart failure","volume":"113","author":"Levy","year":"2006","journal-title":"Circulation"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1093\/eurheartj\/ehs337","article-title":"Predicting survival in heart failure: A risk score based on 39 372 patients from 30 studies","volume":"34","author":"Pocock","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Lup\u00f3n, J., De Antonio, M., Vila, J., Pe\u00f1afiel, J., Gal\u00e1n, A., Zamora, E., Urrutia, A., and Bayes-Genis, A. (2014). Development of a novel heart failure risk tool: The Barcelona bio-heart failure risk calculator (BCN bio-HF calculator). PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0085466"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1002\/ehf2.12809","article-title":"Mortality risk in dilated cardiomyopathy: The accuracy of heart failure prognostic models and dilated cardiomyopathy-tailored prognostic model","volume":"7","author":"Gliniak","year":"2020","journal-title":"ESC Hear. Fail."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"204800401773447","DOI":"10.1177\/2048004017734476","article-title":"Myocardial remodelling and recovery in dilated cardiomyopathy","volume":"6","author":"Tayal","year":"2017","journal-title":"JRSM Cardiovasc. Dis."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1002\/ejhf.1734","article-title":"Predictors of left ventricular remodelling in patients with dilated cardiomyopathy\u2014a cardiovascular magnetic resonance study","volume":"22","author":"Tayal","year":"2020","journal-title":"Eur. J. Heart Fail."},{"key":"ref_77","first-page":"52","article-title":"Reverse remodeling in Dilated Cardiomyopathy: Insights and future perspectives","volume":"18","author":"Merlo","year":"2018","journal-title":"IJC Hear. Vasc."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Yurista, S.R., Matsuura, T.R., Sillj\u00e9, H.H.W., Nijholt, K.T., McDaid, K.S., Shewale, S.V., Leone, T.C., Newman, J.C., Verdin, E., and van Veldhuisen, D.J. (2020). Ketone Ester Treatment Improves Cardiac Function and Reduces Pathologic Remodeling in Preclinical Models of Heart Failure. Circ. Hear. Fail.","DOI":"10.1161\/CIRCHEARTFAILURE.120.007684"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1007\/s00392-017-1079-0","article-title":"Implantable cardioverter\/defibrillators for primary prevention in dilated cardiomyopathy post-DANISH: An updated meta-analysis and systematic review of randomized controlled trials","volume":"106","author":"Wolff","year":"2017","journal-title":"Clin. Res. Cardiol."},{"key":"ref_80","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 Europea","volume":"36","author":"Priori","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_81","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":"Thune","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1161\/CIRCULATIONAHA.116.027134","article-title":"Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future","volume":"136","author":"Halliday","year":"2017","journal-title":"Circulation"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s11886-019-1236-3","article-title":"Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy","volume":"21","author":"Akhtar","year":"2019","journal-title":"Curr. Cardiol. Rep."},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Younis, A., Goldberger, J.J., Kutyifa, V., Zareba, W., Polonsky, B., Klein, H., Aktas, M.K., Huang, D., Daubert, J., and Estes, M. (2021). Predicted benefit of an implantable cardioverter-defibrillator: The MADIT-ICD benefit score. Eur. Heart J.","DOI":"10.1093\/eurheartj\/ehaa1057"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1016\/j.jacc.2010.12.041","article-title":"Reverse Remodeling and the Risk of Ventricular Tachyarrhythmias in the MADIT-CRT (Multicenter Automatic Defibrillator Implantation Trial\u2013Cardiac Resynchronization Therapy)","volume":"57","author":"Barsheshet","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1161\/CIRCULATIONAHA.105.561571","article-title":"Are implantable cardioverter defibrillator shocks a surrogate for sudden cardiac death in patients with nonischemic cardiomyopathy?","volume":"113","author":"Ellenbogen","year":"2006","journal-title":"Circulation"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1093\/eurheartj\/ehx487","article-title":"Big data from electronic health records for early and late translational cardiovascular research: Challenges and potential","volume":"39","author":"Hemingway","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Bayley, K.B., Belnap, T., Savitz, L., Masica, A.L., Shah, N., and Fleming, N.S. (2013). Challenges in using electronic health record data for CER: Experience of 4 learning organizations and solutions applied. Med. Care.","DOI":"10.1097\/MLR.0b013e31829b1d48"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Morley, K.I., Wallace, J., Denaxas, S.C., Hunter, R.J., Patel, R.S., Perel, P., Shah, A.D., Timmis, A.D., Schilling, R.J., and Hemingway, H. (2014). Defining Disease Phenotypes Using National Linked Electronic Health Records: A Case Study of Atrial Fibrillation. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0110900"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1093\/bib\/bbx044","article-title":"Deep learning for healthcare: Review, opportunities and challenges","volume":"19","author":"Miotto","year":"2017","journal-title":"Brief. Bioinform."},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Bernard, O., Lalande, A., Zotti, C., Cervenansky, F., Yang, X., Heng, P.A., Cetin, I., Lekadir, K., Camara, O., and Gonzalez Ballester, M.A. (2018). Deep Learning Techniques for Automatic MRI Cardiac Multi-Structures Segmentation and Diagnosis: Is the Problem Solved?. IEEE Trans. Med. Imaging.","DOI":"10.1109\/TMI.2018.2837502"},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Ghorbani, A., Ouyang, D., Abid, A., He, B., Chen, J.H., Harrington, R.A., Liang, D.H., Ashley, E.A., and Zou, J.Y. (2020). Deep learning interpretation of echocardiograms. NPJ Digit. Med.","DOI":"10.1101\/681676"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"105264","DOI":"10.1016\/j.cmpb.2019.105264","article-title":"Boosting ICD multi-label classification of health records with contextual embeddings and label-granularity","volume":"188","author":"Blanco","year":"2020","journal-title":"Comput. Methods Programs Biomed."},{"key":"ref_94","first-page":"281","article-title":"Automatic ICD-10 classification of diseases from Dutch discharge letters","volume":"Volume 3","author":"Bagheri","year":"2020","journal-title":"Proceedings of the BIOINFORMATICS 2020\u201411th International Conference on Bioinformatics Models, Methods and Algorithms, Proceedings; Part of 13th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3622","DOI":"10.1016\/S0735-1097(20)34249-2","article-title":"Text-Mining in Electronic Healthcare Records for Efficient Recruitment and Data-Collection in Cardiovascular Trials: A Multicenter Validation Study","volume":"75","author":"Dijk","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1093\/eurheartj\/ehx283","article-title":"Big Data in Cardiovascular Disease","volume":"38","author":"Anker","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_97","first-page":"887","article-title":"A Consensus-Based Approach for Harmonizing the OHDSI Common Data Model with HL7 FHIR","volume":"245","author":"Jiang","year":"2017","journal-title":"Stud. Health Technol. Inform."},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"van de Leur, R., Taha, K., Bos, M.N., van der Heijden, J.F., Gupta, D., Cramer, M.J., Hassink, R.J., van der Harst, P., Doevendans, P.A., and Asselbergs, F.W. (2021). Discovering and Visualizing Disease-specific Electrocardiogram Features Using Deep Learning: Proof-of-concept in Phospholamban Gene Mutation Carriers. Circ. Arrhythmia Electrophysiol., CIRCEP.120.009056.","DOI":"10.1161\/CIRCEP.120.009056"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"e015138","DOI":"10.1161\/JAHA.119.015138","article-title":"Automatic Triage of 12-Lead ECGs Using Deep Convolutional Neural Networks","volume":"9","author":"Blom","year":"2020","journal-title":"J. Am. Heart Assoc."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1161\/CIRCULATIONAHA.114.010637","article-title":"Phenomapping for novel classification of heart failure with preserved ejection fraction","volume":"131","author":"Shah","year":"2015","journal-title":"Circulation"},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Verdonschot, J.A.J., Merlo, M., Dominguez, F., Wang, P., Henkens, M.T.H.M., Adriaens, M.E., Hazebroek, M.R., Mas\u00e8, M., Escobar, L.E., and Cobas-Paz, R. (2020). Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences. Eur. Heart J.","DOI":"10.1093\/eurheartj\/ehaa841"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ejhf.16","article-title":"Long-term prognostic impact of therapeutic strategies in patients with idiopathic dilated cardiomyopathy: Changing mortality over the last 30 years","volume":"16","author":"Merlo","year":"2014","journal-title":"Eur. J. Heart Fail."},{"key":"ref_103","doi-asserted-by":"crossref","unstructured":"Paldino, A., De Angelis, G., Dal Ferro, M., Faganello, G., Porcari, A., Barbati, G., Korcova, R., Gentile, P., Artico, J., and Cannat\u00e0, A. (2020). High prevalence of subtle systolic and diastolic dysfunction in genotype-positive phenotype-negative relatives of dilated cardiomyopathy patients. Int. J. Cardiol.","DOI":"10.1093\/ehjci\/jez319.632"},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Ranjan, Y., Kerz, M., Rashid, Z., B\u00f6ttcher, S., Dobson, R.J., and Folarin, A.A. (, January October). RADAR-base. Proceedings of the 2018 ACM International Joint Conference and 2018 International Symposium on Pervasive and Ubiquitous Computing and Wearable Computers, Singapore.","DOI":"10.1145\/3267305.3267579"},{"key":"ref_105","unstructured":"(2021, January 20). Harvard TH Chan School of Public Health FORHEALTH Harvard Application. Available online: https:\/\/applab.forhealth.org\/#section-8."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s13167-019-00188-9","article-title":"Artificial intelligence supported patient self-care in chronic heart failure: A paradigm shift from reactive to predictive, preventive and personalised care","volume":"10","author":"Barrett","year":"2019","journal-title":"EPMA J."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Antoniades, C., Asselbergs, F.W., and Vardas, P. (2021). The year in cardiovascular medicine 2020: Digital health and innovation. Eur. Heart J.","DOI":"10.15829\/1560-4071-2021-4425"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cardfail.2017.09.006","article-title":"Comparative Effectiveness of Telemonitoring Versus Usual Care for Heart Failure: A Systematic Review and Meta-analysis","volume":"24","author":"Yun","year":"2018","journal-title":"J. Card. Fail."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s10840-008-9303-5","article-title":"Implantable CRT device diagnostics identify patients with increased risk for heart failure hospitalization","volume":"23","author":"Perego","year":"2008","journal-title":"J. Interv. Card. Electrophysiol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1161\/01.CIR.0000139841.42454.78","article-title":"Continuous autonomic assessment in patients with symptomatic heart failure: Prognostic value of heart rate variability measured by an implanted cardiac resynchronization device","volume":"110","author":"Adamson","year":"2004","journal-title":"Circulation"},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Stehlik, J., Schmalfuss, C., Bozkurt, B., Nativi-Nicolau, J., Wohlfahrt, P., Wegerich, S., Rose, K., Ray, R., Schofield, R., and Deswal, A. (2020). Continuous Wearable Monitoring Analytics Predict Heart Failure Hospitalization. Circ. Hear. Fail., 13.","DOI":"10.1161\/CIRCHEARTFAILURE.119.006513"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s11897-020-00467-x","article-title":"The Role of Wearables in Heart Failure","volume":"17","author":"Singhal","year":"2020","journal-title":"Curr. Heart Fail. Rep."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/5\/921\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:29:36Z","timestamp":1760160576000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/5\/921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,26]]},"references-count":112,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,3]]}},"alternative-id":["jcm10050921"],"URL":"https:\/\/doi.org\/10.3390\/jcm10050921","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,26]]}}}