扩大心肌病与非扩大左心室功能障碍:基因型-表型关系和结果
Irina Bellisario1, Alberto Aimo2, Giancarlo Todiere3
1Department of Neuroscience, Imaging and Clinical Sciences, University of Chieti, Italy.
International journal of cardiology
|March 5, 2026
概括
遗传突变没有预测扩张性心肌病 (DCM) 和非扩张左心室功能障碍 (NDLVD) 的结果. 双管节缩功能和LV填充压力是这些非缺血性心肌病的关键预后指标.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 心血管成像 - 心血管成像
背景情况:
- 扩张性心肌病 (DCM) 和非扩张性左心室功能障碍 (NDLVD) 呈现异质的遗传特征和预后.
- 了解基因型-表型关系对于管理这些疾病至关重要.
研究的目的:
- 研究DCM和NDLVD患者的遗传突变和临床表现之间的关系.
- 确定非缺血性心肌病患者心血管事件的预后因素.
主要方法:
- 包括249名左心室喷射率 (LVEF) <57%的患者进行临床,遗传和心磁共振 (CMR) 评估.
- 根据LV扩张标准将患者分类为DCM或NDLVD,不包括其他心脏病理.
- 评估了心血管死亡,持续的心室节律失常或除器干预的复合终点,以及包括心力衰竭住院治疗在内的二次终点.
主要成果:
- 在27%的患者中发现了致病性/可能致病性突变,但与表型或预后没有关联.
- 在随访期间 (中位数为72个月),22%的患者经历了初级综合事件,27%的患者经历了二级终点.
- 多变量分析确定了男性性别,疾病持续时间,尿素,非持续性心室节律失常,LVEF,左心房体积和CMR衍生的LV填充压力作为不良预后的预测因素.
结论:
- 在非缺血性心肌病症中,双心室缩功能,左心房体积和CMR衍生的LV填充压力预测预后不佳.
- 遗传突变没有被发现是这个队列中结果的显著预测因素.
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