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Kardiologie up2date 2016; 12(01): 63-75
DOI: 10.1055/s-0042-102278
Herzrhythmusstörungen
© Georg Thieme Verlag KG Stuttgart · New York

Genetische Arrhythmiesyndrome ohne strukturelle Herzerkrankung

Britt-Maria Beckmann
,
Stefan Kääb
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Publication History

Publication Date:
08 March 2016 (online)

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Abstract

Correct diagnosis of primary arrhythmia syndromes and initiation of adequate therapies are determinants of decreasing the incidence of sudden cardiac death in the young. Currently, well-established prophylactic and therapeutic precautions exist particularly for the majority of the otherwise healthy patients affected by arrhythmia syndromes without structural cardiac changes. Genetic diagnostics plays an important part in the confirmation of diagnosis and – where appropriate – in genotype-specific therapy and primarily in implementing systematic family screening and thus the early identification of asymptomatic relatives with an increased risk for arrhythmias.

In light of increasing ease of availability, genetic testing should continue to be pre-planned carefully with respect to therapeutic consequences and results never be viewed in isolation from clinical findings.

Kernaussagen

  • Die korrekte Diagnosestellung eines primären Arrhythmiesyndroms und die Einleitung einer adäquaten Therapie sind entscheidend zur Senkung der Häufigkeit des plötzlichen Herztodes in jungen Jahren.

  • Gerade für die meist sonst gesunden Patienten mit einem Arrhythmiesyndrom ohne strukturelle Veränderungen des Herzens gibt es gut etablierte prophylaktische und therapeutische Maßnahmen.

  • Die genetische Diagnostik spielt eine wichtige Rolle zur Bestätigung der Diagnose, ggf. für die genotypspezifische Therapie und vor allem zur frühzeitigen Erkennung von asymptomatischen Angehörigen mit einem erhöhten Arrhythmierisiko.

  • Die genetische Untersuchung sollte jedoch auch bei zunehmend leichterer Verfügbarkeit umsichtig im Hinblick auf die therapeutischen Konsequenzen geplant werden und das Ergebnis nie isoliert von den klinischen Befunden interpretiert werden.

 

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