{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T16:51:42Z","timestamp":1785430302376,"version":"3.56.0"},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"11","license":[{"start":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T00:00:00Z","timestamp":1762300800000},"content-version":"unspecified","delay-in-days":4,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A case of a 3-year-old asymptomatic male patient, who previously lost two brothers and was found to have a homozygote ryanodine receptor 2 gene mutation, is presented. The patient\u2019s initial electrocardiogram showed right bundle branch block, first-degree AV block, and left anterior hemiblock (trifascicular block), and echocardiographic examination revealed increased trabeculation in the left ventricle. Since the patient\u2019s mother and father were consanguineous, a homozygous missense mutation was detected in the ryanodine receptor type 2 gene within the scope of clinical exome sequencing in the genetic test performed. Considering the family history, a dual-chamber epicardial implantable cardioverter-defibrillator implantation was performed. This case highlights the treatment process of a patient with a significant family history and a ryanodine receptor type 2 gene mutation, commonly associated with catecholaminergic polymorphic ventricular tachycardia, aiming to raise awareness of the disease.<\/jats:p>","DOI":"10.1017\/s1047951125110202","type":"journal-article","created":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T10:22:15Z","timestamp":1762338135000},"page":"2339-2343","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["A ryanodine receptor 2 gene variant associated with left ventricular non-compaction, cardiac conduction disease, ventricular arrhythmias, and sudden cardiac death"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0868-8009","authenticated-orcid":false,"given":"Ensar","family":"Duras","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03k7bde87","id-type":"ROR","asserted-by":"publisher"}],"name":"Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Recep Siyar","family":"Balik","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03k7bde87","id-type":"ROR","asserted-by":"publisher"}],"name":"Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6501-0416","authenticated-orcid":false,"given":"Hasan Candas","family":"Kafali","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03k7bde87","id-type":"ROR","asserted-by":"publisher"}],"name":"Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4375-2881","authenticated-orcid":false,"given":"Mehmet","family":"Karacan","sequence":"additional","affiliation":[{"name":"Istanbul Umraniye Education and Research Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yakup","family":"Ergul","sequence":"additional","affiliation":[{"name":"Al Jalila Children\u2019s Specialty Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,11,5]]},"reference":[{"key":"S1047951125110202_ref4","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euad156"},{"key":"S1047951125110202_ref6","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/eut382"},{"key":"S1047951125110202_ref7","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0000000000001051"},{"key":"S1047951125110202_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(99)00461-1"},{"key":"S1047951125110202_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2018.07.011"},{"key":"S1047951125110202_ref11","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000192146.85173.4b"},{"key":"S1047951125110202_ref12","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.121.003589"},{"key":"S1047951125110202_ref9","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20210209"},{"key":"S1047951125110202_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.2.196"},{"key":"S1047951125110202_ref5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.711606"},{"key":"S1047951125110202_ref10","doi-asserted-by":"publisher","DOI":"10.1001\/jamacardio.2021.4458"},{"key":"S1047951125110202_ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0243649"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951125110202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T03:30:22Z","timestamp":1764559822000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951125110202\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":12,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S1047951125110202"],"URL":"https:\/\/doi.org\/10.1017\/s1047951125110202","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. 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