Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation

Anders G Holst, Bo Liang, Thomas Jespersen, Henning Bundgaard, Stig Haunso, Jesper Hastrup Svendsen, Jacob Tfelt-Hansen

    19 Citations (Scopus)

    Abstract

    Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.
    Original languageEnglish
    JournalCardiology
    Volume115
    Issue number4
    Pages (from-to)311-6
    Number of pages6
    ISSN0008-6312
    DOIs
    Publication statusPublished - 1 Jan 2010

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