数据日期 2026-10-29 · 生成时间 2026-10-29 06:03
研究问题
Congenital heart diseases (CHDs) are among the common birth defects and leading causes of childhood mortality and morbidity, with a high prevalence of 9 per 1000 live births in India [1–3].
方法
[14] carried out a multicentric case‐control study on a total of 730 mothers (306 case mothers of a child with a COD and 424 control mothers of a child without birth defects), distinguishing between those with CHD‐affected and unaffected offspring.；Many of the genes reported in this study have cardiovascular relevance (e.g., RTEL1 and POT1).；Future Direction The evidence presented in this review underscores a compelling and underexplored intersection between telomere biology and the pathogenesis of CHD.
核心结论
A recent study using an animal model showed that at nonphysiological oxygen levels (~20% O2), mouse embryos exhibited reduced telomere elongation during early cleavage stages, linking elevated oxygen exposure to altered mitochondrial regulation of telomere dynamics [71].；Notably, DS mothers carrying these polymorphisms had a lower mean age of conception (27.3 ± 0.2 years) than those without (30.2 ± 0.4 years, p = 0.01), indicating age‐independent genetic susceptibility.；A significant maternal haplotype (MTHFR 1298C‐677C; p = 0.0172) was also linked to MII errors. ‖ 结论：These perturbations impair cardiac septation and morphogenesis, contributing to the development of CHD.
局限
全文未设独立 limitations 节；结构上为综述/二次研究，因果推断强度受限。
对本项目的价值
★★★☆☆ 血管老化提供可影像量化、可短期读取的中间终点，适合做机制到临床的桥接。队列：UK Biobank；最大样本量约 472,174；设计 回顾性。
全文来源
PMC JATS 全文（正文 45,085 字符，已过标题/DOI 逐字归属校验）
原文题录
- 英文标题：Telomere Dynamics in Congenital Heart Defects: Hidden Architects of Cardiogenesis?
- 期刊与标识：Hum Mutat · PMID 42935766 · DOI 10.1155/humu/5547171**
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