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Long and short QT syndrome

Langes und Kurzes QT-Syndrom

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Zusammenfassung

In der letzten Dekade ist es durch molekulargenetische Analysen zu erheblichen Fortschritten in unserem Verständnis über primär elektrische Herzerkrankungen gekommen. Das angeborene Long-QT-Syndrom (LQTS) und das kürzlich beschriebene Short-QTSyndrom (SQTS) werden durch eine Dysfunktion kardialer Ionenkanäle hervorgerufen. Die daraus resultierenden Repolarisationsstörungen führen zu einer abnormalen Verlängerung oder Verkürzung der QTc-Zeit im EKG. Diese Ionenkanalerkrankungen zeigen ein hohes Maß an genetischer Heterogenität, welche sich durch eine enorme Variabilität der Genotyp-Phänotyp Relation äußert. Im Folgenden haben wir einen kurzen, klinisch gewichteten Überblick über den aktuellen Wissensstand der molekularen Grundlagen des LQTS und SQTS zusammengestellt.

Summary

In the past decade molecular genetic analysis has greatly expanded our knowledge about inherited arrhythmogenic syndromes. The congenital long QT syndrome (LQTS) and the recently described short QT syndrome (SQTS), with the defining characteristic of abnormal prolongation or shortening of the QTc interval on the surface electrocardiogram, are caused by cardiac ion channel dysfunctions. These “channelopathies” show a high degree of genetic heterogeneity of the molecular pathways in terms of the relationships between genetic defects and phenotypic expression. In this brief review we summarize the current understanding of the molecular basis of long and short QT syndrome with focus on the impact of molecular genetics on the clinical management of these diseases.

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Authors and Affiliations

  1. Städtisches Klinikum Bielefeld Mitte, Abteilung für Kardiologie und internistische Intensivmedizin, Teutoburger Str. 50, 33604, Bielefeld, Germany

    B. Borchert, T. Lawrenz &  C. Stellbrink

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  1. B. Borchert
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  2. T. Lawrenz
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  3. C. Stellbrink
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Correspondence to C. Stellbrink.

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Borchert, B., Lawrenz, T. & Stellbrink, C. Long and short QT syndrome. Herzschr. Elektrophys. 17, 205–210 (2006). https://doi.org/10.1007/s00399-006-0534-9

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  • DOI: https://doi.org/10.1007/s00399-006-0534-9

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