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Related Experiment Videos

Cardiovascular involvement in osteogenesis imperfecta.

J Hortop, P Tsipouras, J A Hanley

    Circulation
    |January 1, 1986
    PubMed
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    Osteogenesis imperfecta (OI) patients show mild aortic root dilatation in about 12% of cases, a nonprogressive trait. Valvular dysfunction is rare, suggesting distinct cardiovascular involvement in OI.

    Area of Science:

    • Cardiovascular Medicine
    • Genetics
    • Rare Diseases

    Background:

    • Osteogenesis imperfecta (OI) is associated with aortic root dilatation and valvular dysfunction.
    • The full spectrum of cardiovascular involvement in OI remains unclear.

    Purpose of the Study:

    • To delineate the nature and extent of cardiovascular abnormalities in individuals with osteogenesis imperfecta.
    • To investigate the prevalence and characteristics of aortic root dilatation and valvular dysfunction in OI.

    Main Methods:

    • A clinical and echocardiographic survey was conducted on 109 individuals with nonlethal OI syndromes from 66 families.
    • A subset of 66 individuals, with one member per family, was analyzed for aortic root dimensions and valvular function.

    Main Results:

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    • Clinically significant valvular dysfunction was rare (4/109 individuals).
    • Aortic root dilatation was identified in 12.1% (8/66) of the subset, with mild and nonprogressive findings.
    • Dilatation occurred across OI syndromes but segregated within families (p < .001).
    • Mitral valve prolapse in individuals aged ≥15 years (6.9%) did not differ from the general population.

    Conclusions:

    • Aortic root dilatation is a distinct, nonprogressive phenotypic trait in approximately 12% of OI patients.
    • Valvular dysfunction is infrequent in OI.
    • Further research is needed to determine if mitral valve prolapse is part of the OI cardiovascular phenotype or an independent genetic trait.