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 journalArticle (Academic Journal)

4 Citations (Scopus)
245 Downloads (Pure)

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 languageEnglish
Pages (from-to)233-238
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume60
Issue number5
Early online date27 Feb 2017
DOIs
Publication statusPublished - 1 May 2017

Keywords

  • Journal Article

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