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

TY - JOUR

T1 - Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome

AU - Refaat, Marwan M

AU - El Hage, Lea

AU - Steffensen, Annette Buur

AU - Hotait, Mostafa

AU - Schmitt, Nicole

AU - Scheinman, Melvin

AU - Badhwar, Nitish

N1 - Copyright © 2016 Elsevier Inc. All rights reserved.

PY - 2016/3/1

Y1 - 2016/3/1

N2 - The authors present a unique case of torsades de pointes in a b-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.

AB - The authors present a unique case of torsades de pointes in a b-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.

U2 - 10.1016/j.ccep.2015.10.037

DO - 10.1016/j.ccep.2015.10.037

M3 - Journal article

C2 - 26920202

SN - 1877-9182

VL - 8

SP - 247

EP - 256

JO - Cardiac Electrophysiology Clinics

JF - Cardiac Electrophysiology Clinics

IS - 1

ER -