Fujino Mitsuhiro, Tsuda Etsuko, Hirono Keiichi, Nakata Masanori, Ichida Fukiko, Hata Yukiko, Nishida Naoki, Kurosaki Kenichi
Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
Department of Pediatrics, Graduate School of Medicine, University of Toyama, Toyama, Japan.
J Cardiol Cases. 2018 Jul 1;18(1):33-36. doi: 10.1016/j.jccase.2018.04.001. eCollection 2018 Jul.
Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy that is morphologically characterized by a two-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. We present a case report regarding the identification of a new mutation in in a patient with LVNC using next-generation sequencing. A 13-year-old girl who had no family history of cardiac disease was hospitalized with dyspnea after exercise and electrocardiographic abnormalities during a school screening. Based on her clinical features, she was diagnosed with LVNC. Via genetic analysis, a heterozygous missense variant was identified in the proband. Although mutations in have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy, this is the first report of a mutation in this gene in a patient with LVNC. < We identified a variant in in a patient with isolated left ventricular noncompaction using next-generation sequencing (NGS). Mutations in have been reported in patients with hypertrophic cardiomyopathy and restrictive cardiomyopathy. The use of NGS also results in the identification of multiple genetic variants of unknown significance to the investigated disease.>.
左心室心肌致密化不全（LVNC）是一种独特的心肌病，其形态学特征为心肌呈两层结构、有许多突出的肌小梁以及与左心室腔相通的深陷肌小梁间隐窝。我们报告一例使用二代测序技术在一名LVNC患者中鉴定出新突变的病例。一名无心脏病家族史的13岁女孩，在学校筛查时因运动后呼吸困难和心电图异常而住院。根据其临床特征，她被诊断为LVNC。通过基因分析，在先证者中鉴定出一个杂合错义变异。尽管已有肥厚型心肌病和限制型心肌病患者中该基因发生突变的报道，但这是首次在LVNC患者中报道该基因突变。<我们使用二代测序（NGS）在一名孤立性左心室心肌致密化不全患者中鉴定出一个变异。肥厚型心肌病和限制型心肌病患者中已有该基因突变的报道。使用NGS还能鉴定出多个对所研究疾病意义不明的基因变异。>
