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Updated: Jun 23, 2025
08:28
Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
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Human Genetics of Atrioventricular Septal Defect
1Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA. maslenc@ohsu.edu.
Advances in Experimental Medicine and Biology
|June 17, 2024
Summary
Atrioventricular septal defects (AVSD) are severe congenital heart defects. While over 100 mutations are implicated in mice, human AVSD genetics are complex, rarely involving single genes.
Area of Science:
- Medical Genetics
- Developmental Biology
- Cardiology
Background:
- Atrioventricular septal defects (AVSD), or common atrioventricular canal (CAVC), are severe congenital heart malformations affecting 1 in 2100 births.
- AVSD constitutes approximately 5% of all congenital heart defects and is linked to genetic syndromes like Down syndrome, as well as occurring as isolated cases.
Purpose of the Study:
- To summarize current knowledge on the genetic basis of Atrioventricular septal defects (AVSD).
- To review advances in identifying genetic risk factors for both syndromic and nonsyndromic AVSD cases.
Main Methods:
- Review of existing literature on genetic mutations and pathways associated with AVSD.
- Analysis of studies in mouse models and human genetic data.
Main Results:
- Over 100 genetic mutations potentially causing AVSD have been identified in mouse models.
- Human AVSD exhibits genetic heterogeneity, with single-gene defects being rare; familial cases show autosomal dominant inheritance.
- Syndromes like heterotaxy suggest additional genes and pathways contribute to AVSD risk.
Conclusions:
- The genetic underpinnings of most AVSD cases remain largely unknown.
- Despite complexity, progress has been made in identifying genetic risk factors for AVSD.
- Understanding the genetic basis of AVSD is crucial for diagnosis and potential therapeutic strategies.
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