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

Research output: Contribution to journal › Journal article › Research › peer-review

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Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome. / Refaat, Marwan M; El Hage, Lea; Steffensen, Annette Buur; Hotait, Mostafa; Schmitt, Nicole; Scheinman, Melvin; Badhwar, Nitish.

In: Cardiac Electrophysiology Clinics, Vol. 8, No. 1, 03.2016, p. 247-256.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Refaat, MM, El Hage, L, Steffensen, AB, Hotait, M, Schmitt, N, Scheinman, M & Badhwar, N 2016, 'Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome', Cardiac Electrophysiology Clinics, vol. 8, no. 1, pp. 247-256. https://doi.org/10.1016/j.ccep.2015.10.037

APA

Refaat, M. M., El Hage, L., Steffensen, A. B., Hotait, M., Schmitt, N., Scheinman, M., & Badhwar, N. (2016). Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome. Cardiac Electrophysiology Clinics, 8(1), 247-256. https://doi.org/10.1016/j.ccep.2015.10.037

Vancouver

Refaat MM, El Hage L, Steffensen AB, Hotait M, Schmitt N, Scheinman M et al. Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome. Cardiac Electrophysiology Clinics. 2016 Mar;8(1):247-256. https://doi.org/10.1016/j.ccep.2015.10.037

Author

Refaat, Marwan M ; El Hage, Lea ; Steffensen, Annette Buur ; Hotait, Mostafa ; Schmitt, Nicole ; Scheinman, Melvin ; Badhwar, Nitish. / Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome. In: Cardiac Electrophysiology Clinics. 2016 ; Vol. 8, No. 1. pp. 247-256.

Bibtex

@article{437b064e985045bc8e945003f94ae963,

title = "Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome",

abstract = "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.",

author = "Refaat, {Marwan M} and {El Hage}, Lea and Steffensen, {Annette Buur} and Mostafa Hotait and Nicole Schmitt and Melvin Scheinman and Nitish Badhwar",

year = "2016",

month = mar,

doi = "10.1016/j.ccep.2015.10.037",

language = "English",

volume = "8",

pages = "247--256",

journal = "Cardiac Electrophysiology Clinics",

issn = "1877-9182",

publisher = "W.B.Saunders Co.",

number = "1",

}

RIS

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

PY - 2016/3

Y1 - 2016/3

N2 - 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.

AB - 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.

U2 - 10.1016/j.ccep.2015.10.037

DO - 10.1016/j.ccep.2015.10.037

M3 - Journal article

C2 - 26920202

VL - 8

SP - 247

EP - 256

JO - Cardiac Electrophysiology Clinics

JF - Cardiac Electrophysiology Clinics

SN - 1877-9182

IS - 1

ER -

ID: 160457339