Three Generations of Hereditary Long-QT Syndrome with Complete Penetrance Caused by the p.G316E KCNQ1 Mutation

• Published in: Pediatric cardiology Vol. 32; no. 1; pp. 102 - 104
• Main Authors: Viadero, M. Teresa, Rubín, Esther, Amigo, Teresa, González-Lamuño, Domingo
• Format: Journal Article
• Language: English
• Published: New York Springer-Verlag 2011; Springer
• Subjects: Cardiac Surgery; Cardiology; Case Report; Causes of; Diagnosis; Female; Gene mutations; Genetic aspects; Genetic Predisposition to Disease; Health aspects; Humans; KCNQ1 Potassium Channel; Long QT syndrome; Male; Medicine; Medicine & Public Health; Mutation, Missense; Pedigree; Romano-Ward Syndrome - genetics; Vascular Surgery; Spain; Genetic mutation; Long-QT syndrome; KCNQ1 channel

This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight survivi...