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Genetic and epigenetic mechanisms in the development of congenital heart diseases

Yue Wu1, Xiaosi Jin2, Yuhao Zhang3

  • 1Department of Genetic and Metabolic Diseases, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

World Journal of Pediatric Surgery
|December 7, 2022
PubMed

Insights

Congenital heart disease (CHD) involves complex genetic and epigenetic factors. Understanding these mechanisms is key to improving diagnosis and reducing childhood mortality from these common birth defects.

Area of Science:

  • Cardiovascular Research
  • Developmental Biology
  • Genetics and Epigenetics

Background:

  • Congenital heart disease (CHD) is the most prevalent birth defect, causing significant global morbidity and mortality.
  • The complex pathogenesis of CHD hinders its classification and understanding.
  • Molecular medicine has identified genetic links, but comprehensive reviews on genetic and epigenetic mechanisms are scarce.

Purpose of the Study:

  • To comprehensively review the genetic and epigenetic factors contributing to CHD pathogenesis.
  • To elucidate the intricate interplay between genetic and epigenetic mechanisms in CHD development.
  • To provide a summative knowledge base for improved CHD diagnosis and treatment.

Main Methods:

  • Review of current literature on CHD etiology.
  • Detailed summary of genetic factors including chromosome abnormalities and gene mutations.
  • Detailed summary of epigenetic factors such as DNA methylation, histone modifications, and non-coding RNAs.

Main Results:

  • Genetic factors like chromosome abnormalities and gene mutations play a role in CHD.
  • Epigenetic factors including DNA methylation, histone modifications, and non-coding RNAs are crucial modulators.
  • The interaction between genetic and epigenetic factors is integral to CHD pathogenesis.

Conclusions:

  • Genetic and epigenetic factors are critical triggers in the pathogenesis of CHD.
  • A deeper understanding of these mechanisms is essential for reducing CHD morbidity and mortality.
  • This review consolidates knowledge to aid future diagnostic and therapeutic strategies for CHD.

Keywords:
cardiovascular systemchild healthgeneticspediatrics

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