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在早期发病的先进心力衰竭中进行全基因组测序

Erik Linnér^1,2, Tomasz Czuba^3,4, Olof Gidlöf^3,4

¹Department of Cardiology, Clinical Sciences Lund, Lund University, Lund, Sweden. erik.linner@med.lu.se.

Scientific reports

|February 5, 2025

概括

晚期心力衰竭 (HF) 患者的基因检测显示了致病变体的高患病率,特别是在多变和扩张心肌病症中. 家庭病史和年龄是不可靠的预测因素,强调了在早期发病的HF中需要进行遗传查的必要性.

科学领域:

心血管遗传学心血管遗传学
基因组学就是基因组学.
精准医学是一门精准的医学.

背景情况:

对早期心力衰竭 (HF) 的遗传贡献尚不清楚.
在接受心脏移植 (HTx) 的高级HF患者中进行基因检测可能会带来临床益处,但数据很少.

研究的目的:

调查在接受HTx的晚期HF患者中致病性遗传变异的流行率.
评估家族史和年龄在预测变种携带者的有用性.
为了比较HTx接受者和人口队列之间的多基因HF风险得分.

主要方法:

在102名瑞典HTx受体中进行深度覆盖全基因组测序 (WGS).
系统的文献审查,以编制基因列表.
变异性致病性的手动分类和多基因风险得分的比较.

主要成果:

在34%的个体中发现了致病性 (LP/P) 变体.
检测收益率在高性 (63%),扩张性 (40%) 和心律失常性右心室 (33%) 心肌病中最高.
携带者 (44%) 的家族史更常见,但不是一个可靠的指标;年龄在各组之间是相似的.
多基因风险得分在HTx接受者和普通人群之间是可比的.

结论:

致病性心肌病基因变异的高患病率存在于早期发病的高级HF患者中.
家庭病史和年龄不足以排除遗传变异.
与一般人群相比,在早期发病的高级HF中,多基因风险得分似乎没有升高.

关键词:

心肌病心脏病变的疾病.遗传学遗传学是一个基因组学就是基因组学.心脏衰竭是因为心脏衰竭.心脏移植心脏移植手术

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