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A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy
Amy R Shikany1, Benjamin J Landis2, Ashley Parrott3
1The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
The Journal of Pediatrics
|July 28, 2020
Summary
Genetic testing in infants with critical congenital heart disease (CHD) yielded diagnoses in 26% of cases. Specific heart defects and extracardiac features like brain abnormalities increased this yield, guiding genetic diagnosis.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Congenital Heart Disease Research
Background:
- Critical congenital heart disease (CHD) is a major cause of infant mortality.
- Comprehensive genetic evaluation is increasingly important for understanding CHD.
- Genotype-phenotype correlations can inform diagnosis and management.
Purpose of the Study:
- To determine the frequency of genetic diagnoses in infants with critical CHD.
- To identify specific CHD subtypes and associated features linked to genetic diagnoses.
- To explore genotype-phenotype correlations in this population.
Main Methods:
- Retrospective chart review of infants (<1 month) with CHD evaluated by cardiovascular genetics (2010-2015).
- CHD classification using structured phenotype definitions.
- Statistical analysis (chi-squared, Fisher exact tests) to associate phenotypes with abnormal genetic testing results.
Main Results:
- Overall abnormal genetic testing yield was 26% in 293 infants.
- Higher yield in multiple congenital anomalies (39%) vs. isolated CHD (20%).
- Right ventricular obstructive defects, ear/nose/throat, and brain abnormalities were associated with abnormal genetic testing. Small for gestational age/intrauterine growth retardation and dysmorphic features also showed associations.
Conclusions:
- A comprehensive cardiovascular genetics approach is valuable for infants with critical CHD.
- Specific cardiac and extracardiac features can guide genetic testing and diagnosis.
- Identifying genotype-phenotype correlations aids in understanding CHD etiology.
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