在韩国患者中使用基于下一代测序的基因测试来识别隐藏心肌病,这些患者最初被诊断患有异常心室动
Joo Hee Jeong1, Yun Gi Kim1, Suk-Kyu Oh1
1Division of Cardiology, Department of Internal Medicine, Korea University College of Medicine and Korea University Anam Hospital, 73, Goryeodae-ro, Seongbuk-gu, Seoul 02841, Republic of Korea.
概括
针对异常性心室动 (IVF) 的遗传测试在5.4%的患者中发现了致病变体. 这表明基因分析可能有助于在IVF病例的一个子集中的分子诊断.
科学领域:
- 心血管遗传学 心血管遗传学
- 遗传性心律失常综合征 遗传性心律失常综合征
背景情况:
- 异常性心室动 (IVF) presents一个诊断挑战,因为它的原因在彻底评估后仍然未知.
- 了解试管婴儿的遗传基础对于准确的诊断和风险分层至关重要.
研究的目的:
- 评估基因检测对被诊断患有异常心室的患者的临床效用和影响.
- 在试管婴儿患者中确定与心血管疾病相关的基因病原变异的频率.
主要方法:
- 利用韩国 (2014-2017年) 遗传性心律失常综合征的多中心注册.
- 下一代测序对174个与心血管疾病相关的基因进行了测序,对96名被诊断为试管婴儿的患者进行了测序.
- 分析的重点在于在试验物中识别致病或可能致病的变体.
主要成果:
- 该研究包括96名试管婴儿患者,平均发病年龄为41.2岁; 82.3%是男性.
- 74名患者进行了基因检测,在5.4% (74人中4人) 发现了致病或可能致病的变体.
- 鉴定出的变异在MYBPC3,MYH7,DSP和TNNI3中,所有这些变异都与缩性或心律失常性右心室心肌病变型相关.
结论:
- 下一代测序在很小比例的试管婴儿患者中确定了致病变体,突出了其在少数人中分子诊断的潜力.
- 基因检测,特别是侧重于心肌病相关基因,可以帮助诊断一小部分试管婴儿病例.
- 需要进一步的研究和长期跟踪,以发现在IVF患者中存在潜在的临床前心肌病,这些患者具有已确定的遗传变异.
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