在患有遗传代谢疾病的儿科患者心脏参与
Gamzegül Gözen Bayramoğlu1, Engin Köse2,3, Ümmühan Öncül2
1Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Türkiye.
概括
心血管并发症在儿科遗传代谢性疾病 (IMD) 中很常见,心肌病和门功能障碍很普遍. 早期的心脏评估和多学科护理对于管理这些高风险患者至关重要.
科学领域:
- 儿童心脏病学 儿童心脏病学
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 是一个遗传学.
背景情况:
- 遗传代谢性疾病 (IMD) 可以导致严重的心血管并发症,如心肌病和门功能障碍.
- 这些并发症显著增加了受影响儿童的发病率和死亡率.
- 综合性心脏评估对于管理IMD患者至关重要.
研究的目的:
- 调查IMD的儿科患者心血管参与的患病率和类型.
- 确定与不同心血管表现相关的特定IMD类型.
- 为儿童心脏病患者的IMD临床管理策略提供信息.
主要方法:
- 对1215名儿科IMD患者 (2012-2021) 的回顾性分析.
- 通过临床记录,心声学和实验室发现评估心血管参与.
- 排除患有先天性心脏缺陷的患者.
主要成果:
- 85名IMD患者 (7%) 显示心血管参与;中位数年龄85个月,随访20个月.
- 最常见的是心肌病 (57.6%,主要是多变性) 和门功能障碍 (40%).
- 与心肌病相关的能量代谢障碍;与膜功能障碍相关的脂蛋白障碍. 在婴儿期经常出现心脏问题;死亡率21.2%.
结论:
- 心血管并发症是儿科IMD患者的重大负担.
- 早期检测和多学科方法对于改善患者的治疗结果至关重要.
- 需要量身定制的干预措施和进一步的多中心研究来优化管理.
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