title: Challenges of diagnosis of long-QT syndrome in children.
abstract: We describe the clinical and genetic characteristics of the family, in which the diagnosis of LQT1 had been made. The electrocardiogram (ECG) characteristics of this patient indicated the likelihood of LQTS1. Polymorphic ventricular extrasystolies and episodes of polymorphic non-sustained ventricular tachycardia were confirmed by Holter ECG monitoring. On the exertional electrocardiogram polymorphic ventricular tachycardia (torsade de pointes) was recorded. Direct sequencing of both DNA strands revealed the absence of mutations or polymorphisms in the KCNQ1, HERG, and SCN5A genes.
authors.affiliation: Department of Biochemistry, Medical University of Silesia, Narcyzów, Poland. ejaniszewska@slam.katowice.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Moric-Janiszewska
authors.forename: Grazyna
authors.initials: G
authors.lastname: Markiewicz-Łoskot
authors.forename: Maria
authors.initials: M
authors.lastname: Łoskot
authors.forename: Ludmiła
authors.initials: L
authors.lastname: Weglarz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Hollek
authors.forename: Lesław
authors.initials: L
authors.lastname: Szydłowski
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D004562:Electrocardiography / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*