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Updated: Jan 20, 2026
Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
Epigenetics and Mechanobiology in Heart Development and Congenital Heart Disease
Dillon K Jarrell1, Mallory L Lennon1, Jeffrey G Jacot2,3
1Department of Bioengineering, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Insights
Congenital heart disease (CHD) is a common birth defect. Aberrant epigenetics and mechanobiology, not just genes, contribute to CHD, offering new diagnostic and therapeutic targets.
Area of Science:
- Developmental Biology
- Genetics
- Epigenetics
- Mechanobiology
Background:
- Congenital heart disease (CHD) is the most common birth defect globally and a leading cause of infant mortality in the US.
- Current understanding and treatments for CHD are limited due to the complexity of early heart development and the inadequacy of genome sequencing in predicting or treating the condition.
- Both epigenetics and mechanobiology play crucial roles in normal heart development, and their dysregulation is increasingly implicated in CHD pathogenesis.
Purpose of the Study:
- To review the stages of human heart development and associated congenital heart defects.
- To discuss the roles of epigenetics and mechanobiology in normal heart development and CHD.
- To highlight recent advances in identifying epigenetic biomarkers and environmental risk factors for CHD.
Main Methods:
- Review of existing literature on human heart development, epigenetics, and mechanobiology.
- Analysis of the interplay between epigenetic and mechanical factors in cardiac development.
- Synthesis of recent findings on novel biomarkers and environmental influences in CHD.
Main Results:
- Detailed description of human heart development stages and corresponding heart defects.
- Elucidation of distinct and overlapping functions of epigenetics and mechanobiology in normal development and CHD.
- Identification of potential novel epigenetic biomarkers and environmental risk factors.
Conclusions:
- Epigenetic and mechanobiological factors are critical in CHD pathogenesis, beyond genetic factors.
- Advances in identifying epigenetic biomarkers and environmental risk factors offer promise for improved CHD diagnosis and understanding.
- Further research into these extra-genomic systems is essential for developing effective CHD therapeutics.
Abstract:
: Congenital heart disease (CHD) is the most common birth defect worldwide and the number one killer of live-born infants in the United States. Heart development occurs early in embryogenesis and involves complex interactions between multiple cell populations, limiting the understanding and consequent treatment of CHD. Furthermore, genome sequencing has largely failed to predict or yield therapeutics for CHD. In addition to the underlying genome, epigenetics and mechanobiology both drive heart development. A growing body of evidence implicates the aberrant regulation of these two extra-genomic systems in the pathogenesis of CHD. In this review, we describe the stages of human heart development and the heart defects known to manifest at each stage. Next, we discuss the distinct and overlapping roles of epigenetics and mechanobiology in normal development and in the pathogenesis of CHD. Finally, we highlight recent advances in the identification of novel epigenetic biomarkers and environmental risk factors that may be useful for improved diagnosis and further elucidation of CHD etiology.
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