title: Genetic testing of patients with long QT syndrome.
abstract: Congenital long QT syndrome is mainly caused by mutations in the KCNQ1, KCNH2 and SCN5A genes. The aim of this study was to investigate the prevalence of mutations in these three genes in patients with long QT syndrome or idiopathic ventricular fibrillation seen at our center. The study included nine patients with long QT syndrome and four with idiopathic ventricular fibrillation. The first-degree relatives of genotype-positive probands were also investigated. Missense mutations were found in seven patients with long QT syndrome and two with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in KCNH2 and 28.6% were in SCN5A. No mutations in KCNQ1 were found. Only two mutations had been previously observed. Mutations were also found in six of the 19 relatives studied. In conclusion, our initial experience shows that genetic testing had a high sensitivity for diagnosing long QT syndrome. Mutations were found most frequently in the KCNH2 gene.
authors.affiliation: Unidad de Arritmias, Servicio de Cardiología, Hospital Universitario Virgen de las Nieves, Granada, Spain. jimenez.jaimez@gmail.com
authors.forename: Juan
authors.initials: J
authors.lastname: Jiménez-Jáimez
authors.forename: Luis
authors.initials: L
authors.lastname: Tercedor-Sánchez
authors.forename: Miguel
authors.initials: M
authors.lastname: Alvarez-López
authors.forename: Esther
authors.initials: E
authors.lastname: Martínez-Espín
authors.forename: Ricardo
authors.initials: R
authors.lastname: Sebastián Galdeano
authors.forename: Isabel
authors.initials: I
authors.lastname: Almansa-Valencia
authors.forename: José A
authors.initials: JA
authors.lastname: Lorente
authors.forename: Rafael
authors.initials: R
authors.lastname: Melgares-Moreno
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult