{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T03:10:27Z","timestamp":1762053027028,"version":"build-2065373602"},"reference-count":13,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Ministry of Education, Culture, Sports, Science and Technology in Japan","award":["22K07932"],"award-info":[{"award-number":["22K07932"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>The NKX2-5 gene encodes a transcription factor and is actively involved in heart formation and development. A pediatric case with its variant and left ventricular noncompaction (LVNC) has not been reported. A 12-year-old girl with a history of a surgery for atrial septal detect was referred because of syncope during exercise. The electrocardiogram showed atrioventricular block, and the echocardiogram revealed prominent trabeculations in the left ventricular wall, suggesting LVNC. A novel heterozygous variant in the NKX2-5 gene (NM_004387.1: c.255_256delCT, p.Phe86fs) was identified. NKX2-5 variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.<\/jats:p>","DOI":"10.3390\/jcm11113171","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T11:05:02Z","timestamp":1654167902000},"page":"3171","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope"],"prefix":"10.3390","volume":"11","author":[{"given":"Yuya","family":"Yamada","sequence":"first","affiliation":[{"name":"Department of Cardiology, Aichi Children\u2019s Health and Medical Center, Obu 474-8710, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8739-174X","authenticated-orcid":false,"given":"Kazushi","family":"Yasuda","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Aichi Children\u2019s Health and Medical Center, Obu 474-8710, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4224-9053","authenticated-orcid":false,"given":"Keiichi","family":"Hirono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1002\/humu.24030","article-title":"An update on genetic variants of the NKX2-5","volume":"41","author":"Kolomenski","year":"2020","journal-title":"Hum. 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