双胞胎双胞胎双胞胎与复杂的先天性心脏病
Utkarsh Kohli1, Melissa L Perrotta2, Saif Aljemmali3
1Department of Pediatrics, Division of Pediatric Cardiology, West Virginia University Children's Hospital and West Virginia University School of Medicine, 64 Medical Center Drive, Robert C. Byrd Health Sciences Center, PO Box 9214, Morgantown, WV, 26506, USA. uk10004@hsc.wvu.edu.
Pediatric cardiology
|November 14, 2023
概括
复杂的先天性心脏病 (CHD) 很少发生在二二 (DiDi) 双胞胎中. 大多数病例缺乏直接的遗传原因,这表明这些罕见的心脏异常的多因素起源.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 周围生理学 周围生理学
背景情况:
- 复杂的先天性心脏病 (CHD) 很少在二二 (DiDi) 双胞胎怀孕中观察到.
- 在DiDi双胞胎中复杂心脏病的表征是有限的,需要对其发生和潜在病因进行进一步的研究.
研究的目的:
- 描述DiDi双胞胎复杂心血管疾病的谱.
- 探索DiDi双胞胎复杂心脏病的潜在遗传基础和促成因素.
主要方法:
- 四个复杂CHD的DiDi双胞胎对的案例系列.
- 关于复杂心血管疾病的DiDi双胞胎对报告的综合文献综述.
- 在可用的双胞胎样本上进行基因检测.
主要成果:
- 观察到的冠状动脉疾病包括Fallot (ToF) 的四分法,三动脉动 (TA) 和大动脉动 (CoA).
- 文献审查发现了更多的TOF,CoA,ccTGA,动脉,CCAVC,HLHS,肖恩综合体和HRHS的病例.
- 干异常,CoA和右心室外流通道问题很普遍;基因检测在一对中发现了三症21,但否则没有透露.
结论:
- 在DiDi双胞胎中复杂的CHD是罕见的和多样化的.
- 虽然一些病例涉及遗传异常,如三症21,但大多数DiDi双胞胎复合性心血管疾病似乎不太可能有主要的直接遗传贡献.
- 在DiDi双胞胎中复杂心脏病的病因基础可能是多因素的.
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