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Congenital heart disease: the crossroads of genetics, epigenetics and environment
Cecilia Vecoli1, Silvia Pulignani1, Ilenia Foffa2
1CNR, Institute of Clinical Physiology, Pisa, Italy.
Insights
Congenital heart diseases (CHDs) are common birth defects with unknown causes. This study explores molecular mechanisms, including gene mutations and environmental factors, contributing to isolated CHDs.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Congenital heart diseases (CHDs) are the most prevalent birth malformations.
- Despite advances in diagnosis and surgery, the etiology of CHDs remains largely undefined.
- Non-syndromic and isolated CHDs suggest a multifactorial pathogenesis involving genetic and environmental factors.
Purpose of the Study:
- To review current knowledge on molecular mechanisms underlying abnormal cardiac development in non-syndromic, isolated CHDs.
- To highlight the interplay of inherited and non-inherited causes in CHD etiology.
- To discuss the potential of future genomic and systems biology approaches.
Main Methods:
- Literature review of molecular mechanisms in CHD.
- Discussion of genetic factors: mutations in cardiac transcription factors, somatic mutations.
- Exploration of epigenetic alterations and gene-environment interactions.
Main Results:
- Identified key molecular pathways implicated in abnormal cardiac development.
- Emphasized the role of genetic variations and epigenetic modifications.
- Highlighted the significance of gene-environment interactions in multifactorial CHD pathogenesis.
Conclusions:
- Understanding molecular mechanisms is crucial for addressing isolated CHDs.
- Future integration of high-throughput genomics and systems biology will enhance insights.
- Advances promise improved prevention, early diagnosis, and targeted therapies for CHDs.
Abstract:
Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.
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