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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
PubMed

Insights

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.
Abstract

Keywords:
cardiovascular geneticschromosome microarraycopy number variantgenetic syndromegenetic testing

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