患有心房动和致病性TTN变体的患者的临床特征和结果
Zain M Virk1, Majd A El-Harasis1, Zachary T Yoneda1
1Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
JACC. Clinical electrophysiology
|October 25, 2024
概括
患有心房 (AF) 和致病性TTN变体的患者有更持久的AF,并经历更多的心脏转变. 几乎一半的患者会出现左心室功能障碍或危险的心律失常,需要专门的护理.
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:
- TTN基因编码了sarcomeric蛋白质的titin,这是一个sarcomeric蛋白质.
- 在心房动 (AF) 和遗传检测阳性患者中经常发现TTN的致病性罕见变异.
研究的目的:
- 为了表征患有AF和致病性TTN变体的患者.
- 为了比较TTN变异阳性AF患者与基因型阴性AF患者的结局.
主要方法:
- AF患者接受了对心肌病和心律失常基因的基因测序.
- TTN(+) 具有致病性或可能致病性变异的AF病例与对照人群相匹配 1:2.
- 现象定型涉及回顾性图表审查.
主要成果:
- 低QRS复合电压在TTN(+) AF病例中更常见 (18%与5%相比).
- 持续性AF (44%vs. 30%) 和多次心脏转变 (61%vs. 37%) 在TTN(+) AF病例中更为频繁.
- 在平均8.3年内,11%的患者患上持续性心室节律失常,44%的患者患上LV静脉缩功能障碍,47%的患者达到综合终点.
结论:
- TTN(+) AF患者经历了更持久的AF和心脏转变.
- 大约50%的TTN(+) AF患者患有LV静脉缩功能障碍和/或恶性心室节律失常.
- 专业的诊断评估和管理对于TTN ((+) AF患者至关重要.
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