Langt QT-syndrom--gener, mekanismer og risici. Indikation for genetisk familieudredning?

Henning Bundgaard, Ole Havndrup, Michael Christiansen, Paal Skytt Andersen, Henrik Kjaerulff Jensen, Jesper Hastrup Svendsen, Keld P Kjeldsen

    Abstract

    Inherited long QT syndrome (LQTS) is a cardiac disease characterised by episodes of ventricular tachyarrhythmia, presenting as syncope or sudden death. Untreated, the annual mortality rate is 1-2%. Sudden death has been reported as the first manifestation of the disease in some cases. Therefore, early (pre-symptomatic) diagnosis and management may save lives. However, clinically false negative relatives are also at risk of sudden death. On this basis we conclude assessment of relatives should be extended with genetic testing.

    Bidragets oversatte titelLong QT syndrome--genes, mechanisms and risks. Indication for genetic family screening?
    OriginalsprogDansk
    TidsskriftUgeskrift for Laeger
    Vol/bind168
    Udgave nummer26-32
    Sider (fra-til)2537-42
    Antal sider6
    ISSN0041-5782
    StatusUdgivet - 26 jun. 2006

    Emneord

    • Death, Sudden, Cardiac
    • Genetic Predisposition to Disease
    • Genetic Testing
    • Humans
    • Ion Channels
    • Long QT Syndrome
    • Risk Factors
    • Syncope

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