title: Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response.
abstract: Intrauterine and neonatal manifestations of congenital long QT syndrome are associated with a high cardiac risk, particularly when atrioventricular block and excessive QT prolongation (> 600 ms(1/2)) are present. In a female newborn with these features, treatment with propranolol and mexiletine led to complete reduction of arrhythmia that was maintained 1.5 years later. High throughput genetic analysis found a sodium channel gene (LQT3) mutation. Disappearance of the 2:1 atrioventricular block and QTc shortening (from 740 ms(1/2) to 480 ms(1/2)), however, was achieved when mexiletine was added to propranolol. This effect was considered to be possibly genotype related. Early onset forms of long QT syndrome may benefit from advanced genotyping.
authors.affiliation: Department of Cardiology and Angiology, Hospital of the University of Münster, D-48129 Münster, Germany. heart@uni-muenster.de
authors.forename: E
authors.initials: E
authors.lastname: Schulze-Bahr
authors.forename: H
authors.initials: H
authors.lastname: Fenge
authors.forename: D
authors.initials: D
authors.lastname: Etzrodt
authors.forename: W
authors.initials: W
authors.lastname: Haverkamp
authors.forename: G
authors.initials: G
authors.lastname: Mönnig
authors.forename: H
authors.initials: H
authors.lastname: Wedekind
authors.forename: G
authors.initials: G
authors.lastname: Breithardt
authors.forename: H-G
authors.initials: HG
authors.lastname: Kehl
mesh_terms: D004562:Electrocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016896:Treatment Outcome