title: Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy.
abstract: Inherited long QT syndrome (LQTS) is characterized by a prolonged ventricular repolarization (QTc interval) and symptoms (syncope, sudden cardiac arrest) due to polymorphic ventricular arrhythmias. As of today, 13 different cardiac ion channel genes have been associated with congenital LQTS. The most common ones are due to KCNQ1 (LQT-1), KCNH2 (LQT-2), and SCN5A (LQT-3) gene mutations and account for up to 75 % of cases. Typical clinical findings are an increased QT interval on the surface electrocardiogram, specifically altered T wave morphologies, polymorphic ventricular arrhythmias, or an indicative family history. Recently, in the HRS/EHRA expert consensus statement, comprehensive genetic testing of major LQTS genes was recommended for index patients for whom there is a strong clinical suspicion of LQTS. Overall, antiadrenergic therapy, in particular β-receptor blockers, has been the mainstay of therapy and has significantly reduced cardiac events. For high-risk patients, an implantable cardioverter defibrillator (ICD) is recommended. Importantly, lifestyle modification and avoidance of arrhythmia triggers are additional important approaches.
authors.affiliation: Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Albert-Schweitzer-Campus 1, Gebäude D3, 48149, Münster, Germany. Sven.Zumhagen@ukmuenster.de
authors.forename: Sven
authors.initials: S
authors.lastname: Zumhagen
authors.forename: Birgit
authors.initials: B
authors.lastname: Stallmeyer
authors.forename: Corinna
authors.initials: C
authors.lastname: Friedrich
authors.forename: Lars
authors.initials: L
authors.lastname: Eckardt
authors.forename: Guiscard
authors.initials: G
authors.lastname: Seebohm
authors.forename: Eric
authors.initials: E
authors.lastname: Schulze-Bahr
mesh_terms: D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005858:Germany / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy*; D012307:Risk Factors; D016019:Survival Analysis; D015996:Survival Rate