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先天性心脏病分子机制研究中的机遇与挑战:综述

The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.

作者信息

Li Mingwei, Wang Shuangxing, Zhang Hui, Meng Bing, Wu Yongjie

机构信息

Department of Cardiac Surgery, Children's Hospital of Capital Institute of Pediatrics, Beijing, China.

出版信息

Mol Syndromol. 2025 May;16(3):201-207. doi: 10.1159/000541266. Epub 2024 Oct 30.

Abstract

BACKGROUND

Advanced molecular mechanism research incorporated with multidisciplinary collaborations on congenital heart disease has prompted new insight into its cause, development, and outcomes.

SUMMARY

This literature review aims to comprehensively examine the genetic molecular mechanisms of congenital heart disease and explain current prospects and challenges in this field. Through a systematic exploration of etiology, embryology, clinical outcomes, algorithms, and ethics, we seek to shed light on the path toward improved diagnostics, treatments, and outcomes for patients.

KEY MESSAGE

Collaboration among genetic researchers, clinicians, data scientists, ethicists, and policymakers is crucial to address challenges and translate research findings into tangible benefits for CHD patients.

摘要

背景

先天性心脏病的先进分子机制研究与多学科合作相结合,为其病因、发展和结局带来了新的见解。

总结

本综述旨在全面研究先天性心脏病的遗传分子机制,并解释该领域当前的前景和挑战。通过对病因学、胚胎学、临床结局、算法和伦理学的系统探索,我们力求阐明改善患者诊断、治疗和结局的途径。

关键信息

基因研究人员、临床医生、数据科学家、伦理学家和政策制定者之间的合作对于应对挑战并将研究成果转化为先天性心脏病患者的切实利益至关重要。

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