在儿科年龄的患者中诊断的细膜病变中广泛的心脏参与:单中心研究
Emily A Hayes1, Kaitlyn Foreman2, Lydia K Wright1
1The Heart Center, Nationwide Children's Hospital, Columbus, Ohio.
Heart rhythm
|February 2, 2025
概括
患有细膜A/C (LMNA) 基因变异的儿科患者往往会发展出严重的心脏问题,如心肌病和心律失常. 早期的遗传检测和心脏监测对于患有拉米诺病的儿童及时治疗至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 儿科 儿科 儿科
背景情况:
- 细膜A/C (LMNA) 中的致病变体会导致遗传性细膜病变.
- 拉米诺病的心脏问题包括心律失常和心肌病,通常在成年时被诊断出来.
- 关于儿科患者心脏表现的数据有限.
研究的目的:
- 研究患有致病性LMNA变异的儿科患者心脏病的自然史.
- 在被诊断为LMNA变异的儿童中表征心脏表型.
主要方法:
- 对年龄在18岁或更年轻,确诊患有致病性LMNA变异的患者进行了回顾性分析.
- 包括2003年至2024年期间在单一中心诊断的患者.
- 临床表型和心脏检测结果的目录.
主要成果:
- 确定了12名患有致病性LMNA变异的儿科患者 (平均年龄4.9岁);75%是男性,83%患有骨肌参与.
- 75%的患者出现心脏表现,包括导电异常和心律失常,平均随访时间为9.5年.
- 心肌病影响了17%的患者,其中一个需要心脏移植;17%的患者在研究期间死亡.
结论:
- 心脏参与,特别是心肌病和渐进的导电异常,在儿科LMNA变种患者中很常见.
- 早期的遗传诊断和频繁的心脏监测对于及时干预儿科细膜病变至关重要.
- 需要进一步的研究,以获得全面的基因型-表型相关性,以了解早期心脏表现.
关键词:
心脏导电障碍 心脏导电障碍心血管植入式电子设备是什么?与LMNA相关的心肌病变.与LMNA相关的疾病拉明A/C A/C 是一个类型.拉米诺病变 拉米诺病变 拉米诺病变 拉米诺病变 拉米诺病变 拉米诺病变更多相关视频
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