长QT综合征的第三季度重复的胎儿损失和母亲的马赛克主义
Todd E Miller1, Elicia Estrella, Robert J Myerburg
1Department of Medicine (Division of Cardiology), University of Miami School of Medicine, Miami Fla, USA.
Circulation
|June 9, 2004
概括
在SCN5A突变中的生殖系马赛克主义可以在后代中引起重复的严重长QT综合征 (LQTS),即使在无症状的母亲中也是如此. 这凸显了在无法解释的胎儿损失或婴儿死亡的情况下需要遗传咨询的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 心脏病学 心脏病学
- 生殖医学 生殖医学
背景情况:
- 在遗传疾病中越来越多地认识到生殖系马赛克主义,这可能解释了10-20%的新发病例.
- 长QT综合征 (LQTS) 是一种严重的遗传性心律失常.
- SCN5A基因编码了一个关键的心脏通道,参与心律调节.
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