Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome
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The authors present a unique case of torsades de pointes in a β-thalassemia patient with early iron overload in the absence of any structural abnormalities as seen in hemochromatosis. Genetic testing showed a novel KCNQ1 gene mutation 1591C>T [Gln531Ter(X)]. Testing of the gene mutation in Xenopus laevis oocytes showed loss of function of the IKs current. The authors hypothesize that iron overload combined with the KCNQ1 gene mutation leads to prolongation of QTc and torsades de pointes.
|Journal||Cardiac Electrophysiology Clinics|
|Number of pages||10|
|Publication status||Published - Mar 2016|