Inheritance of familial primary endocardial fibroelastosis

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Published on: June 14, 2016

A Hanukoglu, D Fried, E Somekh

    Clinical Pediatrics
    |May 1, 1986
    PubMed

    Insights

    Endocardial fibroelastosis (EFE) in two families suggests autosomal or X-linked dominant inheritance with reduced penetrance. Affected children either died in infancy or recovered, showing decreased left ventricular hypertrophy.

    Area of Science:

    • Genetics
    • Cardiology
    • Pediatrics

    Background:

    • Endocardial fibroelastosis (EFE) is a rare cardiac condition affecting infants.
    • Genetic factors are suspected in the etiology of EFE.
    • Understanding EFE inheritance patterns is crucial for genetic counseling.

    Purpose of the Study:

    • To describe two families with multiple affected children with EFE.
    • To investigate the mode of inheritance of EFE in these families.
    • To assess the long-term outcomes and clinical course of EFE survivors.

    Main Methods:

    • Case series describing two related families with EFE.
    • Clinical evaluation of affected and unaffected individuals.
    • Autopsy confirmation of EFE in a deceased infant.
    • Assessment of left ventricular hypertrophy and symptoms in survivors.

    Main Results:

    • Seven out of 15 children across two families developed EFE.
    • Three children died in infancy; EFE confirmed in one by autopsy.
    • Surviving children (ages 15 months to 17 years) are now symptomless.
    • Survivors exhibit reduced left ventricular hypertrophy.

    Conclusions:

    • The inheritance pattern of EFE in these families appears to be autosomal or X-linked dominant with reduced penetrance.
    • EFE may have variable expressivity and potential for recovery in some cases.
    • Further research is needed to elucidate the specific genetic mechanisms of EFE.

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