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A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
Published on: December 16, 2022
Improving the quality of surveillance data on congenital heart defects in the metropolitan Atlanta congenital defects
Tiffany Riehle-Colarusso1, Matthew J Strickland, Mark D Reller
1National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA. tj4@cdc.gov
Insights
Applying the Society of Thoracic Surgeons (STS) nomenclature standardized congenital heart defect (CHD) diagnoses in surveillance data. This improved accuracy and enabled flexible grouping for monitoring CHD prevalence.
Area of Science:
- Pediatric Cardiology
- Epidemiology
- Medical Informatics
Background:
- Lack of a standardized nomenclature for congenital heart defects (CHDs) historically challenged epidemiologic studies.
- The Society of Thoracic Surgeons (STS) developed a comprehensive nomenclature and classification system for CHDs.
- This study aimed to apply the STS nomenclature to a large birth defects surveillance database.
Purpose of the Study:
- To classify congenital heart defect (CHD) cases using the modified STS nomenclature.
- To assess the impact of standardized nomenclature on surveillance data accuracy.
- To develop a flexible system for aggregating CHD cases for research and monitoring.
Main Methods:
- Review of 12,639 CHD cases from the Metropolitan Atlanta Congenital Defects Program (1968-2003).
- Assignment of STS codes by a team of pediatric cardiologists.
- Hierarchical aggregation of cases based on presumed similar developmental mechanisms.
Main Results:
- 89% of cases received a single, primary STS code.
- Application of the nomenclature improved clinical accuracy by excluding normal variants and obligatory shunts.
- Classification facilitated aggregation of specific CHDs into research- and surveillance-appropriate groups.
Conclusions:
- A current, standard CHD nomenclature enhances the specificity of cardiac diagnoses in surveillance databases.
- This standardized system enables flexible case aggregation for effective CHD prevalence monitoring.
- Improved data accuracy supports more robust epidemiological research and public health surveillance of CHDs.
Background:
One of the challenges in epidemiologic studies of congenital heart defects (CHDs) has been the lack of a current, standard nomenclature and classification system. Recently such a standard nomenclature became available from the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database. This study reports the classification of cases of CHDs in a birth defects surveillance database using modified STS nomenclature.
Methods:
Records of infants and fetuses in the Metropolitan Atlanta Congenital Defects Program delivered during 1968-2003 with CHD diagnoses were reviewed by a team of pediatric cardiologists. The cases were assigned one or more STS codes and subsequently grouped into successively broader levels of aggregation. Aggregation was based on presumed morphogenetically similar developmental mechanisms.
Results:
There were 12,639 cases reviewed, of which 89% had a single, primary STS code. Structural CHDs were found in 7,749 infants, while 4,890 were considered to have structurally normal hearts. Application of clinical CHD nomenclature improved the clinical accuracy of surveillance data by eliminating normal physiologic variants and obligatory shunt lesions. Classification also aggregated specific CHDs into groups appropriate for research and surveillance.
Conclusions:
Application of a current, standard CHD nomenclature and classification system to cases in a birth defects surveillance database improves the specificity of cardiac diagnoses and allows for the development of a flexible case aggregation system for monitoring of CHD prevalence.

