与BAG3相关的肌纤维肌病:专注于其心脏参与
Elise Daire1, Elena Panaioli2, Cyril Gitiaux3
1Pediatric Cardiology Department, Amiens University Hospital and Laboratory EA4666 Hematim, University of Picardie-Jules Verne, Amiens, France.
Frontiers in genetics
|December 11, 2025
概括
BAG3 p.Pro209Leu 变种导致严重的儿科心肌病和进展性神经问题. 早期的心脏查对于管理这种罕见的疾病和改善患者的治疗结果至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 肌纤维肌病可以导致严重的儿科心肌病.
- BAG3 p.Pro209Leu变种很少见,对其心脏表型的数据有限.
- 心脏参与对于这些患者的预后至关重要.
研究的目的:
- 描述与BAG3 p.Pro209Leu变异相关的心脏表型.
- 审查有关这种特定遗传变异患者的现有文献.
- 突出心脏评估在治疗受影响儿童中的重要性.
主要方法:
- 三名患有BAG3 p.Pro209Leu变异的患者的病例系列.
- 报告病例的综合文献审查.
- 心脏磁共振成像 (MRI) 用于纤维化评估.
主要成果:
- 三名患者出现严重的限制性心肌病,两名患者出现左心室缩.
- 心脏症状出现在神经发作后的几年,主要是右心力衰竭和心律失常.
- 文献审查显示,受影响儿童的早期心脏参与 (76.9%),主要是限制性心肌病.
- 发现高死亡率 (30.7%) 和严重的进展,包括失去了行走能力和需要通风支持.
结论:
- BAG3 p.Pro209Leu变种导致神经和心脏疾病进展,预后不佳.
- 定期进行心脏查对于早期检测和管理至关重要.
- 神经学监测至关重要,尤其是在心脏移植后.
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