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Kardiale Ionenkanalerkrankungen

Von der Pathophysiologie bis zur Risikostratifizierung

Cardiac channelopathies

From pathophysiology to risk stratification

  • Interventionelle Elektrophysiologie
  • Published:
Der Kardiologe Aims and scope

Zusammenfassung

Kardiale Ionenkanalerkrankungen beruhen auf Mutationen von Ionenkanälen und anderen Funktionsproteinen. Ohne strukturelle Veränderungen des Herzens hervorzurufen, können sie durch Störung der zellulären Repolarisation den plötzlichen Herztod hervorrufen. Ionenkanalerkrankungen lassen sich pathophysiologisch anhand der Funktion der mutierten Proteine einteilen. Für den klinischen Alltag ist die Einteilung nach klinischen und EKG-Kriterien wichtiger. Zu den häufigsten Ionenkanalerkrankungen gehören die verschiedenen QT-Syndrome, das Brugada-Syndrom und die katecholaminergen polymorphen ventrikulären Tachykardien. Therapieoptionen bestehen aus einer medikamentösen Therapie und/oder einer ICD-Implantation. Nur ein Teil der Patienten mit entsprechenden Mutation oder dem jeweils charakteristischen EKG-Bild ist symptomatisch, sodass eine Indikation zur ICD-Implantation angesichts der zahlreichen Komplikationsmöglichkeiten mit Vorsicht gestellt werden muss. Generell besteht eine Empfehlung zur ICD-Therapie bei Zustand nach überlebtem plötzlichem Herztod. Die Entscheidung zur primär-prophylaktischen Implantation ist schwieriger und sollte auf einer gründlichen Risikostratifizierung beruhen.

Abstract

Cardiac channelopathies are caused by mutations of ion channels and other functional proteins. Without causing structural heart disease, they can cause sudden cardiac death by disturbing cellular repolarization. Channelopathies can be distinguished by the proteins carrying the specific mutation. More relevant for clinical practice is a nomenclature based on ECG and clinical criteria. Frequent channelopathies are the different QT syndromes, the Brugada syndrome and catecholaminergic polymorphic tachycardia. Therapy options consist of pharmacological and/or ICD therapy. Only part of the patient population with the specific mutation or characteristic ECG pattern is symptomatic; therefore and because of possible complications, ICD therapy has to be considered with caution. Generally, ICD therapy is indicated after survival of sudden cardiac death. The decision to implant an ICD for primary prevention is more difficult and should be based on a thorough risk stratification.

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Authors and Affiliations

  1. Medizinische Klinik C – Kardiologie und Angiologie, Universitätsklinikum Münster, Albert-Schweitzer Str. 33, 48149, Münster, Deutschland

    C. Pott, D.G. Dechering, A. Muszynski, J. Köbe, P. Milberg, K. Wasmer, G. Mönnig & L. Eckardt

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  1. C. Pott
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  2. D.G. Dechering
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  7. G. Mönnig
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  8. L. Eckardt
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Correspondence to C. Pott.

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___Unterstützung_____

L. Eckardt ist der Inhaber der Peter-Osypka-Stiftungsprofessur für Experimentelle und Klinische Elektrophysiologie. C. Pott wird durch ein Rückkehrer-Stipendium der Deutschen Forschungsgesellschaft (Po 1004-1/2) und Drittmittel des Instituts für Innovative Klinische Forschung der Universität Münster (IMF Po 12 06 07) unterstützt.

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Pott, C., Dechering, D., Muszynski, A. et al. Kardiale Ionenkanalerkrankungen. Kardiologe 4, 295–305 (2010). https://doi.org/10.1007/s12181-010-0268-0

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