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患有 osteogenesis imperfecta 的儿童的心脏表现:一个单中心观察性研究
Stefanie Stasek1, Julia Kronenberger1, Ingo Germund-Maiwald2
1University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Germany.
心血管疾病在患有骨质发育不完善 (OI) 的儿童中不常见. 然而,在严重的OI病例中,额叶/大动脉反和大动脉根扩张更频繁地发生,因此需要进行心声学查.
科学领域:
- 儿童心脏病学 儿童心脏病学
- 遗传学 遗传学 是一个
- 结合组织疾病 结合组织疾病
背景情况:
- 骨质生成不完美 (OI) 是一种罕见的遗传疾病,影响I型原蛋白合成.
- I型原蛋白对心血管结构和完整性至关重要.
- 有限的数据存在于心脏参与儿科OI.
研究的目的:
- 确定患有OI的儿童心脏异常的患病率和特征.
- 评估小儿OI患者的结构和功能心脏变化.
主要方法:
- 在78名患有OI的儿童 (1-18岁) 上进行了标准化的心电图和心声图.
- 在OI亚型中计算和比较Z-score.
- 由儿科心脏病学家进行的评估.
主要成果:
- 在13%的患者中发现先天性心脏缺陷 (ASD,PDA).
- 在7.3-8.7%的患者中观察到轻度的米特拉/大动脉反和大动脉根扩张,在严重的OI中更为常见.
- 大动脉根/大动脉环直径与OI严重程度相关;心室功能保持正常.
结论:
- 临床意义上的心血管疾病在儿科OI中很罕见.
- 在严重的OI表型中,心交/大动脉反和大动脉根扩张更为普遍.
- 在过渡到成人护理之前,建议对中度至重度的OI患者进行心声检查.
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