心肌病中的基因检测:我们是否需要重新定义英国的国家检测标准?
Andrew Chisom Madu1, Anthony David Dimarco1,2, Amy Hardy-Wallace1
1Essex Cardiothoracic Centre, Basildon University Hospital, Basildon, UK.
Open heart
|January 21, 2026
概括
许多患有遗传性心肌病和遗传性病因的患者不符合英国的测试标准. 更广泛的基因测试 (GT) 准则,专注于表型严重程度,可能有利于处于风险的亲属.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组医学是基因组医学.
背景情况:
- 遗传性心脏病,如扩张性心肌病 (DCM) 和多变性心肌病 (HCM),通常具有单一的原因.
- 基因检测 (GT) 可以识别致病基因变异,影响患者管理和家庭查.
- 目前英国国家基因组测试目录 (NGTD) 对GT的标准是限制性的,与更广泛的欧洲心脏病学会 (ESC) 建议形成鲜明对比.
研究的目的:
- 确定DCM或HCM患者中不符合NGTD基因检测标准的病原性基因型的流行率.
- 评估GT在这个队列中的诊断产量及其对家庭成员的影响.
主要方法:
- 对257名经证实DCM或HCM的患者进行了追溯分析,这些患者接受了GT.
- 在2023年1月至2025年1月期间从埃塞克斯遗传心脏病诊所收集的数据.
主要成果:
- 对GT的诊断收益率为DCM的19.9%,对HCM的17.4%.
- 14.8%的基因阳性DCM患者和14.3%的基因阳性HCM患者不符合NGTD标准,通常是由于发病年龄.
- 所有不符合标准的DCM患者都表现出心肌纤维化,这表明表型严重程度是关键指标.
结论:
- 大约有七分之一的心肌病和致病性基因型患者不符合英国目前的测试标准.
- 建议采用ESC更广泛的指导方针,强调表型严重程度 (例如心肌痕) 而不是严格的年龄切断.
- 实施更广泛的GT标准可以为每位确诊患者平均4名处于风险的一级亲属进行预测测试.
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