Some Isolated Cardiac Malformations Can Be Related to Laterality Defects
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Published on: December 5, 2011
Paolo Versacci1, Flaminia Pugnaloni2, Maria Cristina Digilio3
1Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy. paolo.versacci@uniroma1.it.
Insights
Human organ arrangement establishes left-right asymmetry early in development. This review explores how defects in this process, known as laterality defects, can cause congenital heart diseases, even in typical organ positioning.
Area of Science:
- Developmental Biology
- Human Genetics
- Cardiovascular Science
Background:
- Human organ arrangement exhibits left-right asymmetry, with the heart breaking symmetry first during embryonic development.
- Abnormalities in left-right axis determination lead to laterality defects like situs inversus and heterotaxy.
- Heterotaxy is frequently associated with severe cardiovascular malformations, including atrioventricular canal defects and transposition of the great arteries.
Purpose of the Study:
- To review current data on heart morphogenesis and left-right determination.
- To explore familial recurrence patterns and upstream genetic pathways.
- To highlight the connection between congenital heart diseases and laterality defects.
Main Methods:
- Review of existing literature on human embryogenesis and animal models.
- Analysis of genetic pathways involved in left-right axis determination.
- Examination of familial recurrence data for laterality defects and congenital heart disease.
Main Results:
- Left-right asymmetry is a fundamental aspect of human development, initiated by the heart.
- Laterality defects, such as heterotaxy, are strongly linked to complex congenital heart malformations.
- Common congenital heart diseases, even in situs solitus, may stem from pathogenetic fields related to laterality defects.
Conclusions:
- Congenital heart diseases, particularly those common in heterotaxy, can be viewed as part of a broader spectrum of laterality defects.
- Understanding the genetic and developmental pathways of left-right determination is crucial for diagnosing and treating these conditions.
- Further research into the pathogenetic field of laterality defects may offer new insights into isolated congenital heart diseases.
Abstract:
Human beings are characterized by a left⁻right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left⁻right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy. In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy—are commonly found in situs solitus with or without genetic syndromes. Here, we review current data on morphogenesis of the heart in human beings and animal models, familial recurrence, and upstream genetic pathways of left⁻right determination in order to highlight how some isolated congenital heart diseases, very common in heterotaxy, even in the setting of situs solitus, may actually be considered in the pathogenetic field of laterality defects.
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