{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T16:46:15Z","timestamp":1789145175644,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pacing Clinical Electrophis"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heart block is rare in pediatrics with many possible causes. An association between complete heart block (CHB) and pathogenic titin (<jats:italic>TTN<\/jats:italic>) mutations have not been previously described. We report a 9\u2010year\u2010old female with history of leukodystrophy and family history of atrial fibrillation who presented with syncope and conduction abnormalities, including CHB. She underwent pacemaker implantation and genetic testing demonstrated a pathogenic <jats:italic>TTN<\/jats:italic> mutation likely responsible for her cardiac findings. Our case suggests an association between <jats:italic>TTN<\/jats:italic> mutations and conduction disease and emphasizes broadening gene testing in assessing these patients, especially when a family history is present.<\/jats:p>","DOI":"10.1111\/pace.14726","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T07:29:33Z","timestamp":1684913373000},"page":"253-255","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Severe cardiac conduction disease associated with titin gene mutation"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1419-6919","authenticated-orcid":false,"given":"Jonathan","family":"Uniat","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital Los Angeles, Heart Institute  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1166-0042","authenticated-orcid":false,"given":"Allison","family":"Hill","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Los Angeles, Heart Institute  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Shwayder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Los Angeles, Heart Institute  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6415-3685","authenticated-orcid":false,"given":"Yaniv","family":"Bar\u2010Cohen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's Hospital Los Angeles, Heart Institute  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jce.15255"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2748-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06618-y"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.18179"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.309396"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.08.063"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0169007"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euac030"}],"container-title":["Pacing and Clinical Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pace.14726","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T15:31:23Z","timestamp":1711121483000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pace.14726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,24]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1111\/pace.14726"],"URL":"https:\/\/doi.org\/10.1111\/pace.14726","archive":["Portico"],"relation":{},"ISSN":["0147-8389","1540-8159"],"issn-type":[{"value":"0147-8389","type":"print"},{"value":"1540-8159","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,24]]},"assertion":[{"value":"2023-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}