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Congenital Heart Disease and Neurodevelopment: Clinical Manifestations, Genetics, Mechanisms, and Implications

Sarah N Nattel1, Laura Adrianzen2, Erica C Kessler3

  • 1Department of Psychiatry, Albert Einstein College of Medicine and Seaver Autism Center at Icahn School of Medicine at Mount Sinai, New York, New York, USA.

The Canadian Journal of Cardiology
|November 28, 2017
PubMed

Insights

Children with congenital heart disease (CHD) face higher risks of neurodevelopmental disorders (NDDs) and psychiatric conditions. Genetic factors and in utero issues, not surgery, are key contributors to these brain abnormalities.

Area of Science:

  • Pediatric Cardiology
  • Neurodevelopmental Pediatrics
  • Genetics

Background:

  • Children with congenital heart disease (CHD) exhibit elevated risks for neurodevelopmental disorders (NDDs) and psychiatric conditions.
  • These conditions manifest as deficits in cognitive, adaptive, motor, speech, behavioral, and executive functions, alongside autism spectrum disorder.
  • Brain abnormalities are observable in young children with CHD pre-surgery, suggesting prenatal developmental insults.

Purpose of the Study:

  • To explore the intricate relationship between congenital heart disease (CHD) and neurodevelopmental disorders (NDDs).
  • To identify genetic factors and prenatal influences contributing to NDDs in children with CHD.
  • To inform risk stratification, classification, screening, and management strategies for individuals with CHD.

Main Methods:

  • Review of neuroimaging studies demonstrating brain abnormalities in young children with CHD.
  • Analysis of genetic data, focusing on copy number variants and specific gene pathways (e.g., APOE, Wnt signaling).
  • Examination of genetic loci associated with both CHD and NDDs (e.g., 1q21.1, 16p13.1-11, 8p23.1).

Main Results:

  • Pre-surgical brain abnormalities are evident in children with CHD, linked to in utero insults rather than surgical factors.
  • Specific genetic abnormalities, including copy number variants, are increasingly implicated in the co-occurrence of CHD and NDDs.
  • Gene variations in APOE, Wnt signaling, histone modification, and specific genetic loci show associations with both conditions.

Conclusions:

  • Understanding the genetic and prenatal underpinnings of NDDs in CHD is crucial.
  • These insights are vital for developing targeted screening, risk stratification, and therapeutic interventions for affected children.
  • Further research into implicated genetic factors promises to enhance clinical management of individuals with CHD and associated neurodevelopmental challenges.

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