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Extracardiac malformations associated with congenital heart disease

E I Wallgren, B Landtman, J Rapola

    European Journal of Cardiology
    |March 1, 1978
    PubMed

    Insights

    Extracardiac malformations are common in children with congenital heart disease, affecting nearly half of those studied. These anomalies significantly contributed to mortality, particularly in low birthweight infants.

    Area of Science:

    • Pediatrics
    • Cardiology
    • Medical Genetics

    Background:

    • Congenital heart disease (CHD) is a significant health concern in infants and children.
    • Extracardiac malformations (ECMs) frequently coexist with CHD, impacting patient outcomes.
    • Understanding the spectrum and impact of ECMs in CHD is crucial for comprehensive care.

    Purpose of the Study:

    • To determine the incidence of significant extracardiac malformations in a cohort of 1000 children with CHD.
    • To analyze the association between ECMs and patient demographics, birthweight, and mortality.
    • To identify patterns of ECMs in relation to specific types of congenital heart lesions.

    Main Methods:

    • Combined clinical and autopsy study of 1000 pediatric patients with CHD.
    • Data collection included patient demographics, birthweight, age at death, and presence of extracardiac anomalies.
    • Statistical analysis to determine incidence, associations, and frequency of organ system involvement.

    Main Results:

    • Extracardiac malformations were identified in 439 (43.9%) of the 1000 children.
    • ECMs were more frequent in girls and in infants with low birthweight (≤2500 g).
    • Noncardiac anomalies were primary causes of death in one-third of cases, with alimentary, skeletal, and urogenital systems most frequently involved. Septal defects showed the highest ECM incidence, while transposition of the great arteries had the lowest.

    Conclusions:

    • Significant extracardiac malformations are prevalent in children with congenital heart disease and are a major contributor to mortality.
    • Specific patterns of ECMs are associated with particular types of congenital heart defects, suggesting potential shared developmental pathways.
    • Early identification and management of ECMs are essential for improving outcomes in pediatric CHD patients.

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