Objective:

To analyze neurodevelopmental outcomes in pediatric patients with congenital heart disease, focusing on the impact of genetic diagnoses and their clinical significance.

Key Findings:

• Patients with a genetic diagnosis (nearly 12% of participants) scored more than 15 points lower across cognitive, language, and motor domains compared to those without a genetic diagnosis.

Interpretation:

Neurodevelopmental outcomes in congenital heart disease patients are influenced by a combination of genetic, medical, and social factors, highlighting the need for tailored interventions.

Limitations:

• Cross-sectional design limits the ability to establish causality.
• Registry-based data may be affected by site-to-site variation and missing information.
• Selection bias possible as only 29% of eligible patients attended follow-up, which may skew results.
• Some patients without a genetic diagnosis may have undetected genetic conditions.

Conclusion:

The study highlights the need for surveillance of neurodevelopmental outcomes in infants undergoing heart surgery in the first year of life, emphasizing the importance of addressing identified factors.