童年发病的过度缩性心肌病变,由细丝瘤变体引起
Gabrielle Norrish1,2, Marisa Gasparini2, Ella Field1,2
1Centre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, London, UK.
Journal of medical genetics
|January 31, 2024
概括
患有薄丝缩性心肌病症 (HCM) 的儿童主要经历心律失常事件,即使没有显著的缩. 薄纤维HCM的短期结果与厚纤维HCM相似.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 儿童的瘤性多变性心肌病 (HCM) 可能源于细丝蛋白质基因的变异,影响多达20%的病例.
- 有限的数据存在于细丝HCM的基因型-表型相关性,需要进一步调查其自然历史和结果.
研究的目的:
- 描述儿科细丝相关性HCM的自然史和结果.
- 为了比较临床过程和不良事件的薄丝HCM与厚丝HCM在儿童.
主要方法:
- 从40名患有致病细丝基因变异的儿科患者 (<18岁) 进行了纵向数据收集.
- 在薄纤维和厚纤维HCM组之间对心脏不良事件进行比较,包括主要心脏不良事件 (MACE),非持续性心室动脉冲动 (NSVT) 和可植入心脏转换器-除器 (ICD) 插入.
主要成果:
- 21名儿童在13.0岁的中位年龄被诊断出患有HCM.
- 在5年的随访中,14.3%的患者经历了MACE,包括非医院停诊和ICD疗法;发生了一例突然死亡.
- 与厚丝HCM相比,薄丝HCM与更频繁的NSVT (28.6%vs10.8%) 和ICD插入 (61.9%vs38.5%) 相关,尽管整体MACE和不节律事件率没有显著差异.
结论:
- 儿科细丝HCM的不良事件主要是心律失常的,并且可以在没有显著的缩的情况下发生.
- 在儿童中,薄丝HCM的短期结果与厚丝HCM的结果相似.
- 需要进一步的研究,以充分阐明长期的基因型-表型相关性在薄丝HCM.
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