Low penetrance in the long-QT syndrome: clinical impact.

  title={Low penetrance in the long-QT syndrome: clinical impact.},
  author={Silvia G. Priori and Carlo Napolitano and Peter J. Schwartz},
  volume={99 4},
BACKGROUND It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or clinical symptoms. This is reflected by the assumption in linkage studies of a penetrance of 90%. We had previously suggested that a larger-than-anticipated number of LQTS patients might be affected without showing clinical signs. We have now exploited the availability of molecular diagnosis to test this hypothesis. METHODS AND RESULTS We identified 9 families with… CONTINUE READING
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