title: Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
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.
authors.affiliation: West of Scotland Clinical Genetics Service, Level 2A Laboratory Medicine Building, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow, G51 4TF, UK. Electronic address: mira.kharbanda@nhs.net.
authors.forename: Mira
authors.initials: M
authors.lastname: Kharbanda
authors.affiliation: Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, UK.
authors.forename: Amanda
authors.initials: A
authors.lastname: Hunter
authors.affiliation: Department of Medical Genetics, Ashgrove House, Foresterhill, Aberdeen, AB25 2ZA, UK.
authors.forename: Stephen
authors.initials: S
authors.lastname: Tennant
authors.affiliation: Molecular Genetics, David Brock Building, Western General Hospital, Edinburgh, EH4 2XU, UK.
authors.forename: David
authors.initials: D
authors.lastname: Moore
authors.affiliation: University Hospitals Bristol NHS Foundation Trust, Marlborough Street, Bristol, BS2 8HW, UK.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Curtis
authors.affiliation: School of Physiology, Pharmacology and Neuroscience, Biomedical Sciences Building, University Walk, Bristol, BS8 1TD, UK.
authors.forename: Jules C
authors.initials: JC
authors.lastname: Hancox
authors.affiliation: West of Scotland Clinical Genetics Service, Level 2A Laboratory Medicine Building, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow, G51 4TF, UK.
authors.forename: Victoria
authors.initials: V
authors.lastname: Murday
mesh_terms: D004452:Echocardiography; D005260:Female; D006352:Heart Ventricles / Q000503:physiopathology*; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human
keywords: Arrhythmias; Cardiomyopathy; Genetics