单心室性心血管疾病儿童队列中的表型和基因型
Elizabeth K Baker1, Amy Shikany1, David S Winlaw2,3
1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Cardiology in the young
|October 18, 2023
概括
患有单心室先天性心脏病 (CHD) 的儿童通常有神经发育障碍. 这一群人的基因检测,特别是那些在广泛的基因分析之前出生的人,很少产生诊断,强调需要更新的基因评估.
科学领域:
- 儿童心脏病学 儿童心脏病学
- 神经发育儿科 神经发育儿科
- 临床遗传学 临床遗传学
背景情况:
- 先天性心脏病 (CHD) 与神经发育障碍的风险增加有关.
- 心血管疾病与神经发育障碍和/或心脏外异常的结合增加了潜在遗传诊断的可能性.
- 在过去的15年里,广泛的基因测试取得了显著的进步.
研究的目的:
- 调查神经发育障碍与单心室性心血管疾病儿童遗传诊断之间的关联.
- 在先进的遗传检测被广泛采用之前,评估被诊断患有单心室性心脏病的儿童.
主要方法:
- 在Fontan手术后对74名5至12岁单心室性心脏病患者进行了回顾性评估.
- 评估神经发育状态和对进行的遗传测试的审查.
主要成果:
- 与文献 (50%) 相比,该队列表现出神经发育障碍的患病率更高 (80%).
- 年轻的患者 (5-7岁) 的基因咨询比老年患者 (8-12岁) 更多 (46%对19%,p=0.01).
- 总体来说,分子诊断率为12% (年轻人) 和8% (老年人),其中大多数缺乏全面的遗传检测.
结论:
- 在这项研究中,少数患者获得了基因诊断.
- 鉴于最近在鉴定单一性冠状动脉疾病和神经发育障碍的基因方面取得的进展,建议对这一年龄组进行全面的基因测试和临床遗传咨询.
- 当前的测试标准在评估队列的婴儿期没有可用.
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