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Ionenkanalerkrankungen bei Kindern

Ion channel diseases in children

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Zusammenfassung

Unter dem Begriff Ionenkanalerkrankung werden verschiedene Ursachen für brady- und tachykarde supraventrikuläre Arrhythmien, ventrikuläre Arrhythmien, Synkopen und den plötzlichen Herztod zusammengefasst. In der vorliegenden Arbeit soll auf die häufigsten Ursachen eingegangen werden. Hierzu gehört u. a. das Long-QT-Syndrom, Brugada-Syndrom sowie die catecholaminerge polymorphe ventrikuläre Tachykardie und das Andersen-Tawil-Syndrom. Im Prinzip werden die Erkrankungen nach ihrem EKG-Phänotyp benannt. Für die meisten dieser EKG-Phänotypen sind verschiedene Ionenkanäle bzw. genetische Mutationen, die zu einer Fehlfunktion der Ionenströme führen, identifiziert worden. Dies bedeutet z. B., dass für das Brugada-Syndrom und das Long-QT-Syndrom viele verschiedene Mutationen beschrieben wurden, die für mehrere defekte Ionenströme verantwortlich sind. Allen gemeinsam sind die Gefahren der Arrhythmieentstehung und in den meisten Fällen auch sichtbare EKG-Veränderungen, die häufig nur transient sein können. Der Zeitpunkt der Erstmanifestation ist für die verschiedenen Erkrankungen unterschiedlich und wichtig für die Initiierung der Primärdiagnostik. Ebenfalls ist die Therapie der diversen Erkrankungen nicht uniform und die Entscheidung bleibt oft individuell.

Abstract

Ion channel diseases are responsible for the occurrence of supraventricular bradycardia and tachycardia, ventricular tachycardia, syncope and sudden death. In the present paper the specific considerations for diagnostic pathways and therapeutic decision making will be focused on for the largest clinical entities, such as the long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and Andersen-Tawil syndrome. All diseases are characterized by a specific pathognomic electrocardiographic (ECG) alteration. For most of the diseases a variety of mutations have been identified that code for different ion channel proteins. All have a high potential of arrhythmogenicity in common. It is important to know that the ECG alterations are often only transient, which makes repetitive recordings and sometimes provocation maneuvers necessary. The time of onset of disease varies so that the initiation of diagnostics starts at different ages. Therapy often remains an individual choice and is influenced by a number of factors, such as a family history of sudden death.

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Einhaltung ethischer Richtlinien

Interessenkonflikt

C. Wolpert, U. Parade, C. Herrera-Siklody, C. Strotmann und N. Rüb geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Klinik für Innere Medizin, Kardiologie, Nephrologie und internistische Intensivmedizin, Klinikum Ludwigsburg, Posilipostraße 4, 71640, Ludwigsburg, Deutschland

    Christian Wolpert, Ulli Parade, Claudia Herrera-Siklody, Christian Strotmann & Norman Rüb

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  1. Christian Wolpert
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  2. Ulli Parade
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  3. Claudia Herrera-Siklody
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  4. Christian Strotmann
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Correspondence to Christian Wolpert.

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Wolpert, C., Parade, U., Herrera-Siklody, C. et al. Ionenkanalerkrankungen bei Kindern. Herzschr Elektrophys 25, 148–157 (2014). https://doi.org/10.1007/s00399-014-0325-7

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  • DOI: https://doi.org/10.1007/s00399-014-0325-7

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