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[The hypoxic syndrome in children with cardiomyopathy]

E A Yurieva, V S Sukhorukov, E S Vozdvijenskaia

    Klinicheskaia Laboratornaia Diagnostika
    |June 2, 2015
    PubMed

    Insights

    Children with inherited heart conditions show signs of hypoxia, including altered blood gases, dental issues, and metabolic changes. These findings highlight the systemic effects of inherited cardiomyopathies.

    Area of Science:

    • Cardiology
    • Genetics
    • Biochemistry

    Background:

    • Inherited cardiomyopathies, including hypertrophic and dilated forms, and those associated with Ehlers-Danlos Syndrome, affect children.
    • Assessing systemic effects like hypoxia is crucial for understanding disease progression.

    Purpose of the Study:

    • To identify key indicators of hematic and tissue hypoxia in children with various inherited cardiopathies.
    • To investigate the biochemical and cellular alterations associated with these conditions.

    Main Methods:

    • Examination of children (n=85 hypertrophic, n=10 dilated, n=70 Ehlers-Danlos Syndrome) with inherited heart disease.
    • Analysis of blood and saliva for pCO2, lactate, pyruvate, macro-ergic compounds, and uric acid.
    • Assessment of dental health (caries, enamel hypoplasia), urinary calcium/phosphate excretion, and lymphocyte mutations.
    • Evaluation of peroxide oxidation, skeletal muscle morphology (RRF), and mitochondrial alterations.

    Main Results:

    • Typical signs included decreased blood pCO2, increased lactate/pyruvate, multiple caries, and enamel hypoplasia.
    • Decreased blood macro-ergic compounds (ATP, ADP, AMP) correlated with increased urinary calcium and phosphate excretion.
    • Increased hypoxanthine guanine phosphoribosyltransferase mutations were linked to elevated uric acid levels.
    • Elevated peroxide oxidation, skeletal muscle alterations (RRF), and mitochondrial damage (calcium/lipid accumulation) were observed.

    Conclusions:

    • Children with inherited cardiopathies exhibit distinct biochemical and cellular markers of hypoxia.
    • These markers, including metabolic disturbances and dental abnormalities, offer insights into the systemic impact of inherited heart conditions.
    • The findings suggest a link between inherited cardiopathies, hypoxia, and cellular damage, warranting further investigation.

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