诊断产量和预测价值在扩大心肌病的遗传检测的左心室重塑的遗传检测
Edoardo Bertero1,2, Giulia Fracasso1,2, Virginia Eustachi1,2
1Department of Internal Medicine, University of Genoa, Viale Benedetto XV, 10, 16132, Genoa, Italy.
ESC heart failure
|June 7, 2023
概括
扩张性心肌病 (DCM) 的基因检测具有很高的诊断收益率. 在DCM患者中识别致病变体表明左心室逆转型重塑 (LVRR) 尽管治疗较差.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 扩张性心肌病 (DCM) 是心力衰竭的一个重要原因.
- 遗传因素在DCM的发病过程中起着至关重要的作用.
- 了解DCM的遗传基础对于诊断和管理至关重要.
研究的目的:
- 评估DCM患者基因检测的诊断产量.
- 研究致病/可能致病 (P/LP) 变体与DCM中左心室逆转型 (LVRR) 之间的关联.
- 评估遗传变异对DCM治疗反应的影响.
主要方法:
- 对680名心力衰竭门诊患者的回顾性分析.
- 选择了70名被诊断为DCM的患者 (LVEF ≤40%).
- 对66名患者进行了42个DCM相关基因的下一代测序.
- 通过回声心脏学参数 (LVEF,LV终端-透气直径) 评估LVRR,平均随访时间为53个月.
主要成果:
- 基因测试在66名DCM患者中16名中发现了P/LP变体,诊断率为24%.
- 截断TTN变种是最常见的 (n=7),其次是LMNA (n=3).
- 没有P/LP变异的患者与变异患者相比,显著增加了LVRR (LVEF增加+14%vs+1%,p=0.0008).
结论:
- 基因检测表明,在选定的DCM种群中,诊断产量很高.
- 在DCM中存在P/LP变异与对指南导向医学治疗的LVRR反应减少有关.
- 基因分析可以帮助对DCM进行风险分层和个性化治疗策略.
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