产前诊断的心脏瘤和结核硬化综合体:一个单一中心的经验
Matija Bakoš1, Dora Jelinek2, Ana Ćorić Ljoka2
1Department of Pediatrics, Division of Pediatric Cardiology, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Children (Basel, Switzerland)
|January 25, 2025
概括
常见的胎儿心脏瘤 - - 心脏类拉布多米奥马 (CRs) - - 往往表明结核性硬化综合体 (TSC). 大多数CR自发退化,但TSC相关的和发育迟缓显著影响生活质量,强调了早期诊断和治疗的必要性.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 心脏狂列瘤 (CR) 是最常见的胎儿心脏瘤.
- 结核硬化是结核硬化综合体 (TSC) 的常见早期标志物.
研究的目的:
- 为了评估产前诊断出心脏瘤的胎儿的结果.
- 评估CR和TSC之间的关联及其临床影响.
主要方法:
- 对被诊断患有心脏瘤的胎儿的医疗记录的回顾性审查 (2009-2024年).
- 分析瘤特征,TSC诊断,心脏并发症和长期结果.
主要成果:
- 发现了16例病例;88%的确诊TSC. 多重瘤 (81%) 是很常见的.
- 38%的产前和69%的产后发生心脏并发症;较大的瘤与并发症相关 (p=0.02).
- 56%的瘤在产后回归;71%的TSC患者患有和发育迟缓.
结论:
- CRs通常是良性的和回归,但它们与TSC的强烈联系需要早期诊断和咨询.
- 与TSC相关的和精神运动延迟严重影响生活质量.
- 早期的mTOR抑制剂治疗可以减轻TSC并发症并改善结果.
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