title: Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood.
abstract: Long-QT syndromes (LQTSs) have been described in all ages and are a significant cause of cardiovascular mortality, especially in structurally normal hearts. Abnormalities in transmembrane ion conduction channels and structural proteins produce these clinical syndromes, labeled LQT1-LQT12; however, genotype-positive patients still represent only about 70% of LQTSs. Future research will determine the etiology of the remaining cases, further risk-stratify the known genetic defects, improve current treatment options for these syndromes, and uncover novel therapies.
authors.affiliation: Department of Cardiology, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Gregory
authors.initials: G
authors.lastname: Webster
authors.forename: Charles I
authors.initials: CI
authors.lastname: Berul
mesh_terms: D000328:Adult; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D002880:Chromosomes, Human, Pair 11; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics; D019317:Evidence-Based Medicine; D005838:Genotype; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D011379:Prognosis; D012307:Risk Factors; D015222:Sodium Channels / Q000235:genetics
chemical_list: D000889:Anti-Arrhythmia Agents; D051638:Ether-A-Go-Go Potassium Channels; C109967:KCNG1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D015222:Sodium Channels