Unbound MEDLINE

Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.

Abstract

Cardiovascular disease is emerging as a cardinal trait of Turner syndrome, being responsible for half of the 3-fold excess mortality. Turner syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general population inadequately identify the subset of females with Turner syndrome who will suffer events. A high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. Mounting knowledge about the prevalence and interplay of cardiovascular and endocrine disease in Turner syndrome is paralleled by improved understanding of the genetics of the X-chromosome in both normal health and disease. At present in Turner syndrome, this is most advanced for the SHOX gene, which partly explains the growth deficit. This review provides an up-to-date condensation of current state-of-the-art knowledge in Turner syndrome, the main focus being cardiovascular morbidity and mortality. The aim is to provide insight into pathogenesis of Turner syndrome with perspectives to advances in the understanding of genetics of the X-chromosome. The review also incorporates important endocrine features, in order to comprehensively explain the cardiovascular phenotype and to highlight how raised attention to endocrinology and genetics is important in the identification and modification of cardiovascular risk.

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  • Publisher Full Text

    • Authors

    Mortensen KH, Andersen NH, Gravholt CH

    Institution

    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000 Aarhus, Denmark.

    Source

    Endocrine reviews 33:5 2012 Oct pg 677-714

    MeSH

    Cardiovascular Diseases
    Female
    Genetic Association Studies
    Heart Defects, Congenital
    Hormones
    Humans
    Risk Factors
    Turner Syndrome

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't
    Review

    Language

    eng

    PubMed ID

    22707402