Increased interstage morbidity and mortality following stage 1 palliation in patients with genetic abnormalities

Area of Science:

• Pediatric Cardiology
• Medical Genetics
• Congenital Heart Disease

Background:

• Hypoplastic left heart syndrome and single ventricle variants with aortic hypoplasia are severe forms of congenital heart disease (CHD).
• Patients with severe CHD and genetic abnormalities may experience increased interstage morbidity and mortality.

Purpose of the Study:

• To investigate the association between genetic abnormalities and interstage outcomes in infants with severe CHD.
• To assess variations in genetic testing and reporting practices in pediatric cardiology centers.

Main Methods:

• Retrospective review of the National Pediatric Cardiology Quality Improvement Collaborative Phase I registry.
• Categorization of patients into three groups: major genetic syndromes, other genetic abnormalities, and no reported genetic abnormality.
• Statistical analysis including Tukey post hoc test for pairwise comparisons; survey of participating centers on genetic testing practices.

Main Results:

• Of 2182 patients, 5% had major genetic syndromes, 6% had other genetic abnormalities, and 89% had no genetic abnormality.
• Patients with major genetic syndromes had lower birth weight and weight at stage 1 palliation.
• The combined outcome of death, not being a candidate for stage 2 palliation, or heart transplant was more frequent in patients with major genetic syndromes.
• Patients without genetic abnormalities achieved oral feeds sooner and had earlier discharge.

Conclusions:

• Genetic abnormalities are associated with increased interstage morbidity and mortality in infants with severe CHD.
• Significant variability exists in genetic testing and reporting practices across participating pediatric cardiology centers.