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Herzschrittmachertherapie + Elektrophysiologie

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01.09.2012 | Schwerpunkt

Inherited long QT syndrome

Clinical manifestation, genetic diagnostics, and therapy

verfasst von: Dr. med. Sven Zumhagen, M.D., Birgit Stallmeyer, Ph.D., Corinna Friedrich, Ph.D., Lars Eckardt, M.D., Guiscard Seebohm, Ph.D., Eric Schulze-Bahr, M.D.

Erschienen in: Herzschrittmachertherapie + Elektrophysiologie | Ausgabe 3/2012

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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.

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Titel: Inherited long QT syndrome
Clinical manifestation, genetic diagnostics, and therapy
verfasst von: Dr. med. Sven Zumhagen, M.D.
Birgit Stallmeyer, Ph.D.
Corinna Friedrich, Ph.D.
Lars Eckardt, M.D.
Guiscard Seebohm, Ph.D.
Eric Schulze-Bahr, M.D.
Publikationsdatum: 01.09.2012
Verlag: Springer-Verlag
Erschienen in: Herzschrittmachertherapie + Elektrophysiologie / Ausgabe 3/2012
Print ISSN: 0938-7412
Elektronische ISSN: 1435-1544
DOI: https://doi.org/10.1007/s00399-012-0232-8

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