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儿童扩张型心肌病的遗传学

张艳敏 周亚飞

中国实用儿科杂志2025,Vol.40Issue(3):212-218,7.
中国实用儿科杂志2025,Vol.40Issue(3):212-218,7.DOI:10.19538/j.ek2025030605

儿童扩张型心肌病的遗传学

Genetics of dilated cardiomyopathy in children

张艳敏 1周亚飞2

作者信息

  • 1. 西安市儿童医院,陕西省儿科疾病研究所,陕西西安 710003||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
  • 2. 西安市儿童医院,陕西省儿科疾病研究所,陕西西安 710003
  • 折叠

摘要

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.

关键词

儿童/扩张型心肌病/遗传学/基因诊断/基因治疗

Key words

child/dilated cardiomyopathy/genetics/genetic diagnosis/gene therapy

分类

医药卫生

引用本文复制引用

张艳敏,周亚飞..儿童扩张型心肌病的遗传学[J].中国实用儿科杂志,2025,40(3):212-218,7.

基金项目

国家自然科学基金项目(82200399) (82200399)

陕西省国际科技合作计划项目(2024GH-ZDXM-38) (2024GH-ZDXM-38)

中国实用儿科杂志

OA北大核心

1005-2224

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