{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:53:51Z","timestamp":1787018031395,"version":"build-2736575974"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>This study aimed to describe the current practice and results of genetic evaluation in Dutch children with dilated cardiomyopathy and to evaluate genotype-phenotype correlations that may guide prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We performed a multicenter observational study in children diagnosed with dilated cardiomyopathy, from 2010 to 2017.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      One hundred forty-four children were included. Initial diagnostic categories were idiopathic dilated cardiomyopathy in 67 children (47%), myocarditis in 23 (16%), neuromuscular in 7 (5%), familial in 18 (13%), inborn error of metabolism in 4 (3%), malformation syndrome in 2 (1%), and \u201cother\u201d in 23 (16%). Median follow-up time was 2.1 years [IQR 1.0\u20134.3]. Hundred-seven patients (74%) underwent genetic testing. We found a likely pathogenic or pathogenic variant in 38 children (36%), most often in\n                      <jats:italic>MYH7<\/jats:italic>\n                      (n = 8). In 1 patient initially diagnosed with myocarditis, a pathogenic\n                      <jats:italic>LMNA<\/jats:italic>\n                      variant was found. During the study, 39 patients (27%) reached study endpoint (SE: all-cause death or heart transplantation). Patients with a likely pathogenic or pathogenic variant were more likely to reach SE compared with those without (hazard ratio 2.8; 95% CI 1.3\u20135.8,\n                      <jats:italic>P<\/jats:italic>\n                      = 0.007), while transplant-free survival was significantly lower (\n                      <jats:italic>P<\/jats:italic>\n                      = 0.006). Clinical characteristics at diagnosis did not differ between the 2 groups.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Genetic testing is a valuable tool for predicting prognosis in children with dilated cardiomyopathy, with carriers of a likely pathogenic or pathogenic variant having a worse prognosis overall. Genetic testing should be incorporated in clinical work-up of all children with dilated cardiomyopathy regardless of presumed disease pathogenesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.120.002981","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T12:18:18Z","timestamp":1664540298000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":14,"title":["Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification"],"prefix":"10.1161","author":[{"given":"Marijke H.","family":"van der Meulen","sequence":"first","affiliation":[{"name":"Dept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-9102","authenticated-orcid":true,"given":"Johanna C.","family":"Herkert","sequence":"additional","affiliation":[{"name":"Dept of Genetics, Univ of Groningen, Univ Medical Center Groningen, Groningen (J.C.H., I.C.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna L.","family":"den Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9247-0103","authenticated-orcid":true,"given":"Gideon J.","family":"du Marchie Sarvaas","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Univ of Groningen, Univ Medical Center Groningen, Groningen (G.J.M.S.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4823-6974","authenticated-orcid":true,"given":"Nico","family":"Blom","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Univ of Leiden, Leiden Univ Medical Center, Leiden (N.B., A.D.J.H.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3016-1086","authenticated-orcid":true,"given":"Arend D.J.","family":"ten Harkel","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Univ of Leiden, Leiden Univ Medical Center, Leiden (N.B., A.D.J.H.)"},{"name":"Dept of Pediatric Cardiology, Univ of Amsterdam, Academic Medical Center, Amsterdam (A.D.J.H.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8009-8869","authenticated-orcid":true,"given":"Hans M.P.J.","family":"Breur","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Univ of Utrecht, Wilhelmina Children\u2019s Hospital, Univ Medical Center Utrecht, Utrecht (H.M.P.J.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7529-4195","authenticated-orcid":true,"given":"Lukas A.J.","family":"Rammeloo","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Amsterdam Univ Medical Center, location Free Univ Medical Center, Amsterdam (L.A.J.R.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Tanke","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Radboud Univ Medical Center, Nijmegen (R.T.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7095-4641","authenticated-orcid":true,"given":"Carlo","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Dept of Genetics, Radboud Univ Medical Center, Nijmegen (C.M.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2523-1230","authenticated-orcid":true,"given":"Ingrid M.B.H.","family":"van de Laar","sequence":"additional","affiliation":[{"name":"Dept of Clinical Genetics, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (I.M.B.H.L., J.M.A.V.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0340-3433","authenticated-orcid":true,"given":"Judith M.A.","family":"Verhagen","sequence":"additional","affiliation":[{"name":"Dept of Clinical Genetics, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (I.M.B.H.L., J.M.A.V.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4687-0186","authenticated-orcid":true,"given":"Ronald H.","family":"Lekanne dit Deprez","sequence":"additional","affiliation":[{"name":"Dept of Clinical Genetics, Amsterdam Univ Medical Center, location AMC, Amsterdam (R.H.L.D., J.P.T.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4461-4293","authenticated-orcid":true,"given":"Daniela Q.C.M.","family":"Barge-Schaapveld","sequence":"additional","affiliation":[{"name":"Dept of Clinical Genetics, Univ of Leiden, Leiden Univ Medical Center, Leiden (D.Q.C.M.B-S., I.C.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0335-9452","authenticated-orcid":true,"given":"Annette","family":"Baas","sequence":"additional","affiliation":[{"name":"Dept of Genetics, Univ of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands (A.B., A.S., J.P.T.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5557-9342","authenticated-orcid":true,"given":"Arjan","family":"Sammani","sequence":"additional","affiliation":[{"name":"Dept of Genetics, Univ of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands (A.B., A.S., J.P.T.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5799-2344","authenticated-orcid":true,"given":"Imke","family":"Christiaans","sequence":"additional","affiliation":[{"name":"Dept of Genetics, Univ of Groningen, Univ Medical Center Groningen, Groningen (J.C.H., I.C.)"},{"name":"Dept of Clinical Genetics, Univ of Leiden, Leiden Univ Medical Center, Leiden (D.Q.C.M.B-S., I.C.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3854-6749","authenticated-orcid":true,"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[{"name":"Dept of Clinical Genetics, Amsterdam Univ Medical Center, location AMC, Amsterdam (R.H.L.D., J.P.T.)"},{"name":"Dept of Genetics, Univ of Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands (A.B., A.S., J.P.T.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel","family":"Dalinghaus","sequence":"additional","affiliation":[{"name":"Dept of Pediatric Cardiology, Erasmus MC, Univ Medical Center Rotterdam, Rotterdam (M.H.M., M.D.)"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,9,30]]},"container-title":["Circulation: Genomic and Precision Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/pdf\/10.1161\/CIRCGEN.120.002981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T14:15:13Z","timestamp":1665670513000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCGEN.120.002981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,30]]},"references-count":0,"alternative-id":["10.1161\/CIRCGEN.120.002981"],"URL":"https:\/\/doi.org\/10.1161\/circgen.120.002981","relation":{},"ISSN":["2574-8300"],"issn-type":[{"value":"2574-8300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,30]]},"assertion":[{"value":"2020-03-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"10.1161\/CIRCGEN.120.002981"}}