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Cardiac and noncardiac malformations: observations in a population-based study

C Ferencz, J D Rubin, R J McCarter

    Teratology
    |June 1, 1987
    PubMed

    Insights

    Congenital cardiovascular malformations (CCVMs) are strongly linked to chromosomal abnormalities and syndromes. Many non-cardiac defects, particularly CNS and abdominal wall issues, also frequently co-occur with CCVMs.

    Area of Science:

    • Medical Genetics
    • Pediatric Cardiology
    • Birth Defects Research

    Background:

    • Congenital cardiovascular malformations (CCVMs) are a significant cause of infant morbidity and mortality.
    • Understanding the genetic and etiological factors associated with CCVMs is crucial for prevention and early intervention.

    Purpose of the Study:

    • To investigate the association between CCVMs and other congenital abnormalities, including chromosomal and syndromic disorders.
    • To identify non-cardiac anomalies that frequently co-occur with CCVMs.

    Main Methods:

    • A regional case-control study comparing infants with confirmed CCVMs to a representative sample of healthy infants.
    • Data collection included echocardiography, cardiac catheterization, surgery, autopsy reports, physician records, maternal interviews, and death certificates.
    • Detailed phenotyping for both cardiac and non-cardiac abnormalities was performed.

    Main Results:

    • Chromosomal abnormalities (especially involving chromosomes 13, 18, and 21) and syndromes/heritable disorders were significantly more frequent in cases with CCVMs (P < 10^-4).
    • Nonsyndromic abnormalities were three times more common in CCVM cases (P < .005).
    • Excesses of central nervous system malformations, eye disorders, abdominal wall defects, and alimentary/urinary tract anomalies were observed in CCVM cases.

    Conclusions:

    • CCVMs are strongly associated with a wide range of genetic and syndromic conditions.
    • Specific combinations of cardiac and midline anomalies may represent variants of known syndromes.
    • Certain non-cardiac anomalies, like cleft lip/palate and hernias, appear to be associated with CCVMs by chance.

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