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The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital
J A Harris1, C Francannet, P Pradat
1California Birth Defects Monitoring Program, California Department of Health Services, 1830 Embarcadero, Suite 100, Oakland, CA, 94606 USA.
Insights
This study found specific cardiac defects have unique risk factors, suggesting a "splitting" approach for genetic research. Maternal diabetes was not linked to specific congenital heart defects in infants.
Area of Science:
- Cardiology
- Genetics
- Epidemiology
Background:
- Congenital cardiovascular defects (CCDs) are a significant public health concern.
- Understanding the etiology and pathogenesis of specific CCDs is crucial for prevention and treatment.
- Current categorization of cardiac defects may obscure etiological differences.
Purpose of the Study:
- To investigate the association between specific cardiac defects and chromosomal anomalies.
- To evaluate methods for categorizing cardiac defects based on epidemiological similarities.
- To analyze the relationship between specific cardiac defects and maternal diabetes.
Main Methods:
- Pooled data from three large birth defect registries (California, Sweden, France) for infants aged 1 year or younger.
- Data collection involved medical record review in California and reporting from various sources in Sweden and France.
- Analysis focused on identifying specific risk factors and associations for various congenital heart defects.
Main Results:
- Significant variation in chromosomal anomaly prevalence across severe congenital heart defects, from 0.9% for d-transposition of the great arteries (d-TGV) to 68.4% for endocardial cushion defects (ECD).
- Evidence suggests distinct risk factors for components within traditionally grouped conotruncal defects (e.g., tetralogy of Fallot, d-TGV, common truncus, double outlet of the right ventricle).
- No significant association was found between maternal diabetes and specific congenital heart defects.
Conclusions:
- A
- splitting
- rather than
- lumping
- strategy is recommended for identifying specific genetic factors and teratogens.
- Large, collaborative registries are essential for robust etiological analysis of congenital heart defects.
- Maternal diabetes does not appear to be a significant risk factor for specific congenital heart defects.
Abstract:
There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "lumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects.