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Updated: Aug 21, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Descriptive epidemiology of selected congenital heart defects, Hawaii, 1986-1999
Mathias B Forrester1, Ruth D Merz
1Hawaii Birth Defects Program, Honolulu, HI 96817-5157, USA.
Insights
Demographic factors influence congenital heart defect rates. Maternal age and race/ethnicity were linked to specific heart defects, with some variations noted compared to existing literature.
Area of Science:
- Cardiovascular Research
- Pediatric Cardiology
- Birth Defects Epidemiology
Background:
- Congenital heart defects (CHDs) are the leading cause of infant mortality from birth defects.
- Understanding demographic influences on CHDs is crucial for public health initiatives.
Purpose of the Study:
- To investigate the association between demographic factors and specific CHDs in Hawaii's multiethnic population.
- To identify trends in CHD occurrence over time and by demographic variables.
Main Methods:
- Utilized a population-based birth defects registry in Hawaii (1986-1999).
- Analyzed CHD rates in relation to maternal age, race/ethnicity, and sex.
- Compared incidence rates between two time periods (1986-1992 and 1993-1999).
Main Results:
- Increased rates for transposition of the great arteries and Ebstein's anomaly; decreased rates for tetralogy of Fallot.
- Elevated CHD rates (ventricular septal defect, atrial septal defect, etc.) associated with maternal age ≥35 years, even after excluding chromosomal abnormalities.
- Significant racial/ethnic and sex-based disparities observed for various CHDs, with some findings aligning with and others diverging from existing literature.
Conclusions:
- Maternal age, race/ethnicity, and sex are significant demographic factors associated with specific congenital heart defects.
- Temporal trends and demographic associations for certain CHDs warrant further investigation.
- Findings highlight the need for tailored public health strategies considering diverse populations and specific defect types.
Abstract:
Congenital heart defects are the most common type of birth defect and contribute the most to infant mortality due to birth defects. This study examined the relationship between several demographic factors and selected congenital heart defects among the unique multiethnic population in Hawaii during 1986-99, using data from a population-based birth defects registry. Rates were significantly higher in 1993-99 than in 1986-92 for transposition of the great arteries and Ebstein's anomaly, and significantly lower for tetralogy of Fallot. Significantly elevated rates were found with maternal age of > or =35 years for ventricular septal defect, atrial septal defect, endocardial cushion defect, and hypoplastic left heart syndrome. When cases with a known chromosomal abnormality were excluded, elevated rates among the older maternal age group remained for ventricular septal defect, atrial septal defect, and hypoplastic left heart syndrome. Whites had significantly higher rates than one or more of the other racial/ethnic groups for Ebstein's anomaly and coarctation of aorta, and significantly lower rates for tetralogy of Fallot, atrial septal defect, pulmonary valve atresia/stenosis, tricuspid valve atresia/stenosis, and anomalous pulmonary venous return. Significantly higher rates were found among males for transposition of great arteries, aortic valve stenosis, and interrupted aortic arch and, among females, for ventricular septal defect, endocardial cushion defect, and anomalous pulmonary venous return. Some of these differences were consistent with the literature while others were not.
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