Herzschrittmachertherapie + Elektrophysiologie

, Volume 23, Issue 3, pp 211–219 | Cite as

Inherited long QT syndrome

Clinical manifestation, genetic diagnostics, and therapy
  • Sven Zumhagen
  • Birgit Stallmeyer
  • Corinna Friedrich
  • Lars Eckardt
  • Guiscard Seebohm
  • Eric Schulze-Bahr
Schwerpunkt

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.

Keywords

Long QT syndrome Genetic Mutation Phenotype Risk stratification 

Angeborenes Langes QT-Syndrom

Klinische Manifestation, genetische Diagnostik und Therapie

Zusammenfassung

Das angeborene lange QT-Syndrom (LQTS) ist charakterisiert durch eine verlängerte Repolarisation und ein erhöhtes Risiko für das Auftreten eines plötzlichen Herztods. Bislang sind 13 Krankheitsgene bekannt, die für das angeborene LQTS verantwortlich sind; die Ionenkanalgene KCNQ1 (LQT-1), KCNH2 (LQT-2) und SCN5A (LQT-3) sind die häufigsten und für ca. 75 % der Fälle verantwortlich. Typische klinische Zeichen sind neben dem verlängerten QT-Intervall spezifische T-Wellen-Morphologien, polymorphe, ventrikuläre Rhythmusstörungen oder eine hinweisende Familienanamnese. Kürzlich wurde eine internationale Expertenmeinung (HRS/EHRA) verfasst, die bei allen Patienten, bei denen ein hochgradiger, klinischer Verdacht auf ein LQTS besteht, eine genetische Testung empfiehlt. In therapeutischer Hinsicht ist die β-Rezeptor-Blocker-Therapie Mittel der ersten Wahl, da diese signifikant das Auftreten von kardialen Ereignissen verringert. Bei LQTS-Patienten mit einem hohen, kardialen Risiko, besteht die Indikation für einen implantierbaren Kardioverter-Defibrillator (ICD). Unabhängig hiervon haben die Anpassung des Lebensstils und das Vermeiden von Arrhythmietriggern einen wichtigen Stellenwert in der Behandlung der Patienten.

Schlüsselwörter

Langes QT-Syndrom Genetik Mutation Phänotyp Risikostratifizierung 

Notes

Conflict of interest

On behalf of all authors, the corresponding author states that there are no conflicts of interest.

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Sven Zumhagen
    • 1
  • Birgit Stallmeyer
    • 1
  • Corinna Friedrich
    • 1
  • Lars Eckardt
    • 2
  • Guiscard Seebohm
    • 1
  • Eric Schulze-Bahr
    • 1
  1. 1.Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular MedicineUniversity Hospital MünsterMünsterGermany
  2. 2.Division of Experimental and Clinical Electrophysiology, Department of Cardiovascular MedicineUniversity Hospital MünsterMünsterGermany

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