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A decade of advances in the molecular embryology and genetics underlying congenital heart defects
Kazuki Kodo1, Hiroyuki Yamagishi
1Department of Pediatrics, Division of Pediatric Cardiology, Keio University School of Medicine, Japan.
Insights
Congenital heart defects (CHD) arise from abnormal cardiovascular development. Understanding the molecular basis of cardiac progenitor cells, like the second heart field (SHF), is key to uncovering CHD genetic causes.
Area of Science:
- Developmental Biology
- Genetics
- Cardiology
Background:
- Congenital heart defects (CHD) are the most common birth defects, causing significant global mortality.
- Identifying genetic causes for CHD has been challenging despite extensive research.
- Recent advances highlight the importance of molecular embryology and progenitor cell development in heart formation.
Purpose of the Study:
- To review recent discoveries in the molecular embryology of normal heart development.
- To explore the genetic basis of congenital heart defects.
- To elucidate the role of cardiac progenitor cells and transcriptional networks in CHD.
Main Methods:
- Review of recent scientific literature on cardiac development and CHD.
- Analysis of molecular embryology findings, including the second heart field (SHF).
- Examination of genetic factors and transcriptional networks regulating cardiac progenitor cells.
Main Results:
- The heart develops from multiple embryonic origins, including the second heart field (SHF).
- SHF cells contribute to the cardiac outflow tract, alongside cardiac neural crest cells.
- Numerous cardiac transcription factors regulate these progenitor cells during development.
Conclusions:
- Understanding the transcriptional network of cardiac progenitor cells is crucial for comprehending heart development.
- This knowledge offers new insights into the morphogenesis of congenital heart defects.
- Further research into molecular embryology and genetics is essential for advancing CHD understanding and treatment.
Abstract:
Congenital heart defects (CHD) are the most common type of human birth defect and result in significant mortality worldwide. Despite numerous epidemiologic studies in the past decades, few genetic causes have been identified until recently. CHD result from abnormal morphogenesis of the systematic cardiovascular construction during development. Recent advances in molecular embryology, including the discovery of a new source of cardiac progenitor cells termed the second heart field (SHF), have revealed that the heart arises from multiple distinct embryonic origins. Cells derived from the SHF contribute to the development of the cardiac outflow tract, together with the other progenitor cell lineage called cardiac neural crest cells. Numerous cardiac transcription factors regulate these progenitor cells during heart development. Elucidation of the transcriptional network for these cardiac progenitor cells is essential for further understanding cardiac development and providing new insights into the morphogenesis of CHD. This review outlines the recent discoveries of the molecular embryology of the normal heart and the genetic basis of CHD.
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