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Congenital absence of left pericardium in a family

K Taysi, A F Hartmann, G D Shackelford

    American Journal of Medical Genetics
    |May 1, 1985
    PubMed

    Insights

    Congenital absence of the left pericardium, a rare condition, was observed in a family with other congenital heart defects. This suggests a multifactorial inheritance pattern for this condition.

    Area of Science:

    • Cardiology
    • Medical Genetics
    • Radiology

    Background:

    • Congenital absence of the pericardium is a rare condition, with familial occurrence not previously reported.
    • Previous studies indicated a strong male sex predilection for this condition.

    Observation:

    • Characteristic radiographic findings of congenital absence of the left pericardium were identified in two relatives.
    • These individuals were related to two other family members with different congenital heart defects.

    Findings:

    • The familial occurrence of congenital absence of the left pericardium was documented in the presented pedigree.
    • The segregation pattern and co-occurrence with other congenital heart defects suggest multifactorial determination.

    Implications:

    • This study provides novel insights into the potential genetic and environmental factors contributing to congenital absence of the left pericardium.
    • Understanding the multifactorial etiology is crucial for genetic counseling and risk assessment in affected families.

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