基因表型相关物和长期结果预测器的左心室非紧缩在儿童中
Wei-Chieh Tseng1, Shuenn-Nan Chiu1, Jyh-Ming Jimmy Juang2
1Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, College of Medicine, National Taiwan University, Taipei, Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi
|September 27, 2024
概括
儿科左心室非紧缩 (LVNC) 是一种罕见的疾病. 高NT-proBNP水平和遗传变异预测不良结果,强调需要对受影响儿童进行遗传检测和监测.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 儿科左心室非紧缩 (LVNC) 是一种罕见的先天性心脏病.
- 了解其临床过程,预后因素和遗传基础对于患者管理至关重要.
研究的目的:
- 调查儿科左心室非紧缩 (LVNC) 的结果,临床预后因素和遗传特征.
主要方法:
- 在2008年至2020年期间诊断出LVNC的儿科患者 (<18岁) 的回顾性分析.
- 进行全外体序列测序以确定遗传因素.
- 主要终点是死亡,心脏移植或左心室辅助装置植入的复合结果.
主要成果:
- 分析了33名患者,诊断时的平均年龄为0.33岁. 在5年和10年无事件生存率分别为84.8%和66.9%.
- 基线NT-proBNP升高 (aOR=4.4) 和缺乏NT-proBNP改善 (aOR=41.2) 是不良结果的显著预测因素.
- 在72%的患者中,基因检测显示出染色体异常或致病变异,与结果相关的特定变异 (PLEKHM2,RYR2,SCN5A).
结论:
- 儿科LVNC是一种异质性疾病,具有多样化的遗传基础.
- 基线和不断变化的NT-proBNP水平是长期预后的关键指标.
- 遗传异常很常见,应在诊断工作中考虑.
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