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  • Title: [From gene to disease; ion channel proteins and the long QT syndrome].
    Author: Wilde AA, van Langen IM.
    Journal: Ned Tijdschr Geneeskd; 2000 Nov 11; 144(46):2205-7. PubMed ID: 11103258.
    Abstract:
    The long QT syndrome is characterised by QT prolongation on the ECG, repeated syncope and sudden cardiac death. QT prolongation is the result of delayed repolarisation at the cellular level, secondary to dysfunctioning ion channels. Ventricular arrhythmias underlie syncope and death. At least six genes, all encoding (parts of) ion channels, are causally involved. A molecular diagnosis is often feasible and can be reached reasonably straightforwardly, based on the clinical (family) history and the ECG pattern.
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