Article
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
European journal of medical genetics - 1 May 2017
Kharbanda Mira, Hunter Amanda, Tennant Stephen, Moore David, Curtis Stephanie, Hancox Jules C, Murday Victoria
Abstract excerpt
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...
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