title: Identification and genotype related classification of children with long QT-syndrome using 24 h Holter recordings.
abstract: The long QT syndrome (LQTS) belongs to the family of hereditary diseases and can cause life-threatening arrhythmias and leads to sudden cardiac death. Mutations on six genes are responsible for changes in the electrophysiological properties of myocardial cells that are involved in the repolarization phase. In the surface ecg this is expressed by a prolonged QT interval and genotypespecific shapes for the T-Wave. The aim of the study was to find parameters that quantify properties of the repolarization phase which can be used in addition to the established Schwartz score in the process of diagnosing LQTS. Furthermore, ecg features were evaluated for the separation of the LQT subtypes LQT1, LQT2 and LQT3. The combination of the features PtA50 and QTc yielded with 93% sensitivity and 100% specificity the best results in the field of patient identification. Despite the small dataset consisting of 14 patients that was available for the second aim, the achieved results for the morphology indices motivate further research in this field.
authors.affiliation: Department of Medical Informatics, Heidelberg University, Germany. mbauch@hs-heilbronn.de
authors.forename: Matthias
authors.initials: M
authors.lastname: Bauch
authors.forename: Annamaria
authors.initials: A
authors.lastname: Siegler
authors.forename: Markus
authors.initials: M
authors.lastname: Khalil
authors.forename: Jörg
authors.initials: J
authors.lastname: Zehelein
authors.forename: Herbert E
authors.initials: HE
authors.lastname: Ulmer
authors.forename: Hartmut
authors.initials: H
authors.lastname: Dickhaus
mesh_terms: D016022:Case-Control Studies; D002648:Child; D015716:Electrocardiography, Ambulatory / Q000379:methods; D005260:Female; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D012680:Sensitivity and Specificity