Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589010 | European Journal of Medical Genetics | 2017 | 6 Pages |
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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Authors
Mira Kharbanda, Amanda Hunter, Stephen Tennant, David Moore, Stephanie Curtis, Jules C. Hancox, Victoria Murday,