title: Long QT syndrome genotyping by electrocardiography: fact, fiction, or something in between?
abstract: Diagnosis of long QT syndrome (LQTS) is difficult. A prolonged QT interval is easily overlooked, and in 10% of all patients with LQTS, the QT interval is normal. Genotyping is unfortunately not able to detect all patients and healthy subjects correctly. Although QT prolongation is the most used risk parameter, there is no clear correlation between the prolonged QT interval and the risk of arrhythmias in drug-induced LQTS. Quantification of T-wave morphology is a promising method that is able to provide more information about repolarization than QT prolongation alone. It is a fact that ECG evaluation can serve as a guide for genotyping and can reduce the costs by suggesting which gene to start sequencing, but it is fiction that the ECG can replace genotyping.
authors.affiliation: Laboratory of Experimental Cardiology, Department of Medical Physiology, University of Copenhagen, DK2200 Copenhagen N, Denmark. jkanters@mfi.ku.dk
authors.forename: Jørgen K
authors.initials: JK
authors.lastname: Kanters
authors.forename: Claus
authors.initials: C
authors.lastname: Graff
authors.forename: Mads P
authors.initials: MP
authors.lastname: Andersen
authors.forename: Thomas
authors.initials: T
authors.lastname: Hardahl
authors.forename: Egon
authors.initials: E
authors.lastname: Toft
authors.forename: Michael
authors.initials: M
authors.lastname: Christiansen
authors.forename: Poul Erik
authors.initials: PE
authors.lastname: Bloch Thomsen
authors.forename: Johannes J
authors.initials: JJ
authors.lastname: Struijk
mesh_terms: D015220:Calcium Channels / Q000235:genetics*; D002986:Clinical Trials as Topic; D004562:Electrocardiography / Q000379:methods*; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D012680:Sensitivity and Specificity
chemical_list: D015220:Calcium Channels