中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (3): 212-218.DOI: 10.19538/j.ek2025030605

• 专题笔谈 • 上一篇    下一篇

儿童扩张型心肌病的遗传学

  

  1. 1.西安市儿童医院  陕西省儿科疾病研究所，陕西  西安  710003；2.西安交通大学附属儿童医院  西安市儿童医院心血管内科，陕西  西安  710003
  • 出版日期:2025-03-06 发布日期:2025-04-17
  • 通讯作者: 张艳敏，电子信箱：ymzh628@126.com
  • 基金资助:
    国家自然科学基金项目（82200399）；陕西省国际科技合作计划项目（2024GH-ZDXM-38）

Genetics of dilated cardiomyopathy in children

  1. *Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province，Department of Cardiology，Xi’an Children’s Hospital，Xi 'an Jiaotong University，Xi’an  710003，China
  • Online:2025-03-06 Published:2025-04-17

摘要： 扩张型心肌病是导致心力衰竭和心脏移植的主要原因，遗传学病因在疾病发展过程中发挥重要作用，尤其是儿童扩张型心肌病，遗传学病因对疾病发生、发展和临床结局影响更大。精准的遗传学诊断，明确致病基因及遗传变异，基因型表型关系，对研发扩张型心肌病靶向治疗具有重要意义。完善的遗传咨询体系对提高疾病诊疗水平具有积极的作用。

关键词: 儿童, 扩张型心肌病, 遗传学, 基因诊断, 基因治疗

Abstract: Dilated cardiomyopathy（DCM）is the leading cause of heart failure and heart transplantation. Genetic etiology plays an important role in the development of the disease. Especially for children with DCM， genetic etiology has a greater impact on the occurrence， development， and clinical outcomes of the disease. Accurate genetic diagnosis， identification of pathogenic genes and genetic variants and genotype phenotype relationships are of great significance in the development of targeted therapies for DCM. A comprehensive genetic counseling system has a positive effect on improving the diagnosis and management level of the disease.

Key words: child, dilated cardiomyopathy, genetics, genetic diagnosis, gene therapy