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Genetische Determinanten des EKG

Identifizierung proarrhythmogener genetischer Risikomarker

Genetic determinants of the ECG

Identification of proarrhythmogenic genetic risk markers


Schon bald nach der Erfindung des EKG wurden die hohen Heritabilitäten vieler EKG-Parameter erkannt. Seit etwa einer Dekade wird intensiv an der Aufklärung zugrunde liegender genetischer Varianten gearbeitet, mit der Einführung genomweiter Assoziationsstudien steht dafür nun auch eine adäquate Methode zur Verfügung. Die molekulare Identifizierung und Charakterisierung bisher unbekannter herzrhythmusassoziierter Gene und Genvarianten verspricht nicht nur eine Vertiefung unseres Verständnisses der kardialen Elektrophysiologie, sondern auch eine Option auf bessere therapeutische und präventive Strategien für Arrhythmien und den plötzlichen Herztod.


Soon after the introduction of the electrocardiogram (ECG), the high heritabilities of many ECG parameters were recognized. About a decade ago the identification of underlying genetic variants was initiated. With the advent of genome-wide association studies, an adequate method exists to comprehensively identify heart-rhythm-associated genes and gene variants. Their molecular characterization will not only enhance our level of understanding of cardiac electrophysiology but will also offer a future option for improving therapeutic and preventive strategies against arrhythmias and sudden cardiac death.

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Correspondence to A. Pfeufer .

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Pfeufer , A. Genetische Determinanten des EKG. medgen 19, 309–315 (2007).

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  • Elektrokardiographie
  • Assoziationsstudien
  • Herzrhythmusassoziierte Gene
  • Arrhythmien
  • Plötzlicher Herztod


  • Electrocardiography
  • Genome-wide association studies
  • Heart-rhythm-associated genes
  • Arrhythmias
  • Sudden cardiac death