中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (12): 954-960.DOI: 10.19538/j.ek2024120613

• 综述 • 上一篇    

儿童肥厚型心肌病的遗传学研究进展

  

  1. 国家儿童医学中心  复旦大学附属儿科医院心血管中心，上海  201102
  • 出版日期:2024-12-06 发布日期:2025-02-24
  • 通讯作者: 刘芳；电子信箱：liufang@fudan.edu.cn

Advances in genetics of pediatric hypertrophic cardiomyopathy

  1. Heart Center，Children′s Hospital of Fudan University，Shanghai  201102，China
  • Online:2024-12-06 Published:2025-02-24

摘要： 肥厚型心肌病（hypertrophic cardiomyopathy，HCM）是儿童最常见的遗传性心肌病之一，其病理学特征包括心肌细胞增大、心肌细胞紊乱和心肌纤维化，典型的临床特点为出现无法用异常负荷来解释的左心室肥厚。尽管目前HCM的内外科综合治疗已经取得了较大进步，但无法逆转疾病进展，HCM的预后仍不佳，因此随着分子生物学研究的不断发展，HCM的基因诊断和治疗有望成为新型诊疗方案，该文对目前儿童HCM的遗传学研究进展作一综述。

关键词: 肥厚型心肌病, 基因诊断, 基因治疗

Abstract: Hypertrophic cardiomyopathy（HCM） is one of the most common inherited cardiomyopathies in children，with pathological features including cardiomyocyte enlargement，cardiomyocyte disturbances and myocardial fibrosis，and the typical clinical feature is the presence of left ventricular hypertrophy that cannot be explained by abnormal loading.Although great progresses have been made in the comprehensive medical and surgical treatment of HCM，the disease progression cannot be reversed，and the prognosis of HCM is still poor. Therefore，with the continuous development of molecular biology， the genetic diagnosis and treatment of HCM is expected to become a new diagnosis and treatment scheme.This article reviews the current progress in the genetic research of HCM in children.

Key words: hypertrophic cardiomyopathy, genetic diagnosis, gene therapy