Yamada Yuya, Yasuda Kazushi, Hata Yukiko, Nishida Naoki, Hirono Keiichi
Department of Cardiology, Aichi Children's Health and Medical Center, Obu 474-8710, Japan.
Department of Legal Medicine, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan.
J Clin Med. 2022 Jun 2;11(11):3171. doi: 10.3390/jcm11113171.
The 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 gene (NM_004387.1: c.255_256delCT, p.Phe86fs) was identified. variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.
该基因编码一种转录因子，积极参与心脏的形成和发育。尚未有小儿病例及其变异与左心室心肌致密化不全（LVNC）相关的报道。一名有房间隔缺损手术史的12岁女孩因运动时晕厥前来就诊。心电图显示房室传导阻滞，超声心动图显示左心室壁有明显的肌小梁，提示LVNC。在该基因中鉴定出一种新的杂合变异（NM_004387.1: c.255_256delCT, p.Phe86fs）。对于LVNC、先天性心脏病、心律失常和晕厥病例，应考虑基因变异以预防心源性猝死。
