Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation

Mira Kharbanda; Amanda Hunter; Stephen Tennant; Stephanie L Curtis; Jules C Hancox; Victoria Murday

doi:10.1016/j.ejmg.2017.02.003

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation

Mira Kharbanda
, Amanda Hunter
, Stephen Tennant
, Stephanie L Curtis
, Jules C Hancox
, Victoria Murday

Research output: Contribution to journal › Article (Academic Journal) › peer-review

15 Citations (Scopus)

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Abstract

The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.

Original language	English
Pages (from-to)	233-238
Number of pages	6
Journal	European Journal of Medical Genetics
Volume	60
Issue number	5
Early online date	27 Feb 2017
DOIs	https://doi.org/10.1016/j.ejmg.2017.02.003
Publication status	Published - 1 May 2017

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This is the author accepted manuscript (AAM). The final published version (version of record) is available online via Elsevier at http://www.sciencedirect.com/science/article/pii/S1769721216302968?via%3Dihub#!. Please refer to any applicable terms of use of the publisher.
Accepted author manuscript, 2.18 MBLicence: CC BY-NC-ND

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abstract = "The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.",

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AU - Kharbanda, Mira

AU - Hunter, Amanda

AU - Tennant, Stephen

AU - Curtis, Stephanie L

AU - Hancox, Jules C

AU - Murday, Victoria

PY - 2017/5/1

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N2 - The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.

AB - The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.

KW - Journal Article

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M3 - Article (Academic Journal)

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JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 5

ER -

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation

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