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Congenital Heart Diseases: Recent Insights into Epigenetic Mechanisms

José Manuel Rodríguez-Pérez1, Diego B Ortega-Zhindón2,3, Clara Villamil-Castañeda1,4

  • 1Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City 14080, Mexico.

Cells
|June 11, 2025
PubMed

Insights

Congenital Heart Diseases (CHDs) involve heart and artery abnormalities. Aberrant epigenetic mechanisms, influenced by genetics and environment, are increasingly linked to CHD development.

Area of Science:

  • Developmental Biology
  • Genetics
  • Epigenetics

Background:

  • Congenital Heart Diseases (CHDs) affect at least 1% of newborns globally.
  • CHDs are complex conditions influenced by genetic and environmental factors.
  • Epigenetic modifications play a crucial role in regulating gene expression during cardiac development.

Purpose of the Study:

  • To review and summarize the primary epigenetic mechanisms implicated in CHD.
  • To discuss the role of cardiac development in the context of CHD.
  • To highlight the influence of environmental factors on CHD.

Main Methods:

  • Literature review and synthesis of existing research on epigenetics and CHD.
  • Analysis of studies linking epigenetic alterations to cardiac development.
  • Examination of environmental influences on CHD etiology.

Main Results:

  • Epigenetic alterations, such as DNA methylation and histone modification, are associated with aberrant gene expression critical for heart formation.
  • Environmental exposures can induce epigenetic changes that contribute to CHD development.
  • Specific epigenetic pathways are identified as potential contributors to CHD pathogenesis.

Conclusions:

  • Aberrant epigenetic mechanisms are significant contributors to the development of Congenital Heart Diseases.
  • Understanding these epigenetic factors is crucial for identifying novel diagnostic and therapeutic targets for CHD.
  • Further research into the interplay between genetics, environment, and epigenetics in CHD is warranted.

Keywords:
DNA methylationcongenital heart diseasesepigeneticshistone modificationsnon-coding RNAspolycomb and trithorax protein complexes

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