{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:07:33Z","timestamp":1790820453685,"version":"4.1.0"},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"7","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"unspecified","delay-in-days":23,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ankyrin-B syndrome, which has been linked to variants in\n                    <jats:italic>ANK2<\/jats:italic>\n                    and classified as long QT syndrome type 4, is characterised by heterogeneous arrhythmic manifestations, including sinus node dysfunction and conduction abnormalities. Clinically significant atrioventricular block requiring permanent pacing in paediatric patients has rarely been described. We report a 10-year-old boy who presented with recurrent syncope and seizure-like episodes. Electrocardiography demonstrated QT prolongation, and continuous monitoring revealed persistent high-degree atrioventricular block. Genetic testing identified a heterozygous\n                    <jats:italic>ANK2<\/jats:italic>\n                    variant of uncertain significance (NM_001148.4:c.5626G&gt;A, p. Glu1876Lys), which was also detected in his mother and brother, while his father tested negative. Family evaluation revealed variable phenotypic expression, and a sister who died suddenly at 12 years of age had no available genotype but had autopsy findings of structural cardiac abnormalities. This case highlights clinically significant conduction disease in a child found to harbor an\n                    <jats:italic>ANK2<\/jats:italic>\n                    VUS and long-QT phenotype and underscores the importance of detailed family phenotyping, rhythm surveillance, and individualised management.\n                  <\/jats:p>","DOI":"10.1017\/s1047951126123464","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:16:07Z","timestamp":1784866567000},"page":"1532-1535","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["High-degree atrioventricular block in a child with an\n                    <i>ANK2<\/i>\n                    variant and long QT phenotype requiring leadless pacemaker implantation"],"prefix":"10.1017","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5172-1690","authenticated-orcid":false,"given":"Jihye","family":"You","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03by16w37","id-type":"ROR","asserted-by":"publisher"}],"name":"Jeonbuk National University Children\u2019s Hospital"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2026,7,24]]},"reference":[{"key":"S1047951126123464_ref8","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.112.975268"},{"key":"S1047951126123464_ref6","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951121003413"},{"key":"S1047951126123464_ref7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.122.011447"},{"key":"S1047951126123464_ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2014.09.013"},{"key":"S1047951126123464_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2017.07.032"},{"key":"S1047951126123464_ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402546101"},{"key":"S1047951126123464_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2016.06.012"},{"key":"S1047951126123464_ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2015.01.011"},{"key":"S1047951126123464_ref1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.110.224592"},{"key":"S1047951126123464_ref5","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.111.023986"},{"key":"S1047951126123464_ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.90"},{"key":"S1047951126123464_ref2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.656512"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951126123464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:46:01Z","timestamp":1790819161000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951126123464\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["S1047951126123464"],"URL":"https:\/\/doi.org\/10.1017\/s1047951126123464","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"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"}}]}}