{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T10:52:08Z","timestamp":1785408728787,"version":"3.56.0"},"reference-count":8,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"unspecified","delay-in-days":31,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"S1047951126111883_as1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Dilated cardiomyopathy is a rare but severe myocardial disease in the paediatric population, often leading to heart failure, heart transplantation, or sudden cardiac death. Genetic factors are a major contributor to childhood dilated cardiomyopathy. Recently, biallelic variants in the\n                      <jats:italic>PPP1R13L<\/jats:italic>\n                      gene have been implicated in a novel syndromic form of early-onset dilated cardiomyopathy, characterised by cardiac dysfunction alongside variable ectodermal features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S1047951126111883_as2\">\n                    <jats:title>Case Presentation:<\/jats:title>\n                    <jats:p>\n                      We report a 4-year-old boy who presented with decompensated heart failure and echocardiographic findings consistent with dilated cardiomyopathy. Syndromic features included sparse, dry hair, high anterior hairline, broad nasal bridge, and pointed teeth. Genetic analysis revealed a novel homozygous frameshift variant in the\n                      <jats:italic>PPP1R13L<\/jats:italic>\n                      gene (c.2368_2375dup; p. Pro793Glyfs*32), classified as pathogenic. The clinical course was complicated by recurrent ventricular arrhythmias and ultimately sudden cardiac death.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S1047951126111883_as3\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      <jats:italic>PPP1R13L<\/jats:italic>\n                      -related cardiomyopathy should be considered in children with early-onset dilated cardiomyopathy and syndromic features. Early diagnosis is critical for clinical management, arrhythmia surveillance, and appropriate family counselling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/s1047951126111883","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T09:05:24Z","timestamp":1775034324000},"page":"657-660","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":1,"title":["A novel homozygous\n                    <i>PPP1R13L<\/i>\n                    frameshift variant in a child with syndromic dilated cardiomyopathy and fatal arrhythmia"],"prefix":"10.1017","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6783-6492","authenticated-orcid":false,"given":"Hakan","family":"Kurt","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02eaafc18","id-type":"ROR","asserted-by":"publisher"}],"name":"Ege University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4708-0442","authenticated-orcid":false,"given":"Zulal","family":"Ulger","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02eaafc18","id-type":"ROR","asserted-by":"publisher"}],"name":"Ege University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ert\u00fcrk","family":"Levent","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02eaafc18","id-type":"ROR","asserted-by":"publisher"}],"name":"Ege University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1352-7958","authenticated-orcid":false,"given":"\u015eeyma \u015eebnem","family":"\u00d6n","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02eaafc18","id-type":"ROR","asserted-by":"publisher"}],"name":"Ege University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arslan","family":"Bayram","sequence":"additional","affiliation":[{"name":"Gentan Genetik Hastal\u0131klar De\u011ferlendirme Merkezi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0340-7741","authenticated-orcid":false,"given":"Eser","family":"Do\u011fan","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02eaafc18","id-type":"ROR","asserted-by":"publisher"}],"name":"Ege University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2026,4,1]]},"reference":[{"key":"S1047951126111883_ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63932"},{"key":"S1047951126111883_ref1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13812"},{"key":"S1047951126111883_ref8","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14199"},{"key":"S1047951126111883_ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s12872-022-02802-7"},{"key":"S1047951126111883_ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63402"},{"key":"S1047951126111883_ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2021.784715"},{"key":"S1047951126111883_ref6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1408111112"},{"key":"S1047951126111883_ref2","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201606523"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951126111883","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T13:08:39Z","timestamp":1776085719000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951126111883\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["S1047951126111883"],"URL":"https:\/\/doi.org\/10.1017\/s1047951126111883","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"\u00a9 The Author(s), 2026. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}