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[Congenital cardiopathies and associated bone abnormalities]

H Pigeon Oliveros, C Pérez Treviño, I Rodríguez García

    Boletin Medico Del Hospital Infantil De Mexico
    |January 1, 1979
    PubMed

    Insights

    This study identifies a genetic link between congenital heart defects and bone malformations, suggesting an autosomal dominant inheritance pattern. Familial studies are recommended for early diagnosis and intervention in affected individuals.

    Area of Science:

    • Medical Genetics
    • Pediatrics
    • Cardiology

    Background:

    • Congenital cardiovascular anomalies and osseous system malformations can occur together.
    • Understanding the genetic basis of these combined conditions is crucial for diagnosis and prognosis.

    Observation:

    • Seven patients (six infants, one adult) presented with combined congenital heart defects and skeletal abnormalities.
    • Three cases with family pedigrees showed autosomal dominant inheritance, characterized by interauricular septal defects and thumb deformities (polydactyly).
    • Four cases without family studies exhibited interauricular septal defects, transposition of great vessels, and osseous malformations like radium agenesis and polydactyly.

    Findings:

    • Autosomal dominant inheritance was confirmed in cases with family pedigrees.
    • Common findings included interauricular septal defects, polydactyly, and thumb agenesis or deformities.
    • Two infants with severe congenital heart defects died from heart failure within seven months.

    Implications:

    • Early familial studies are recommended to identify individuals at risk for these congenital malformations.
    • Genetic factors play a significant role in the etiopathogenesis of these combined anomalies.
    • Prognosis is closely tied to the type and severity of the congenital cardiac defect.

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