显而易见的异常心房动的遗传基础:一个回顾性概述
Lisa M Verheul1, Martijn H van der Ree2,3, Sanne A Groeneveld1
1Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
概括
针对异常性心室动 (VF) 的遗传检测可以在15%的患者中确定因果变异,特别是当包括DPP6风险单元型时. 面板测试增加了不确定意义 (VUS) 检测的变体.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 诊断异常心室动 (VF) 可能是具有挑战性的.
- 下一代测序 (NGS) 面板为识别心律失常的遗传原因提供了潜力.
- 缺乏共识和不确定的意义变异 (VUS) 的高率使遗传测试解释复杂化.
研究的目的:
- 评估基因测试对被诊断患有异常性心室动 (VF) 的患者的有用性和结果.
- 评估不同遗传测试策略的因果变异和不确定的意义变异 (VUS) 的产量.
主要方法:
- 来自荷兰异常发炎注册表的419名患者的回顾性分析.
- 对379名患者的基因测试结果的审查,包括单基因测试和NGS小组测试.
- 单基因和小组测试方法之间的变异检测率的比较.
主要成果:
- 基因检测在15%的异常风湿性肺炎患者中发现了可能致病的 (LP/P) 变异,DPP6风险类型是最常见的 (70%的LP/P变异).
- 心肌病和心律失常基因占了额外的LP/P变体.
- 在30%的患者中发现了不确定的意义 (VUS) 的变异,小组测试比单基因测试 (38%对3%) 显著产生更多的VUS.
结论:
- 基因检测在大多数异常风湿患者中是可行的,具有显著的因果变异产量,特别是考虑到DPP6风险单元型时.
- 建议针对异常性VF进行专门的基因组,以优化诊断产量,并可能减少VUS.
- 鉴定LP/P变异可能会导致诊断变化,在一小部分患者.
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