Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Original languageEnglish
JournalCardiac Electrophysiology Clinics
Issue number1
Pages (from-to)247-256
Number of pages10
Publication statusPublished - Mar 2016

ID: 160457339