Kardiale Ionenkanalerkrankungen („Kanalopathien“): aktuelle Daten

Zusammenfassung

Kardiale Ionenkanalerkrankungen gehören zu den seltenen Erkrankungen und sind durch eine Vielzahl von verschiedenen Genotypen geprägt. Für die Diagnose sind molekulargenetische Untersuchungen bedeutsam, da sie eine genauere Klassifizierung erlauben. Im vorliegenden Übersichtsartikel werden aktuelle Ergebnisse von Studien zusammengefasst, die einerseits die Bedeutung von molekulargenetischen Analysen, andererseits die Notwendigkeit von klinischen Langzeitstudien im Bereich der Ionenkanalerkrankungen aufzeigen: Long- und Short-QT-Syndrom (LQTS und SQTS), Brugada-Syndrom (BrS), stressinduzierte, polymorphe Kammertachykardien (CPVT), idiopathisches Kammerflimmern (IVF).

Abstract

Cardiac ion channel diseases are rare diseases and are influenced by a variety of different genotypes. For the diagnosis molecular genetic studies are important because they allow a more precise classification. In the present review recent results of studies are summarized, illustrating the importance of molecular genetic analyses, and the necessity of long-term clinical studies in the field of ion channel diseases: long QT and short QT syndrome (LQTS and SQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and finally idiopathic ventricular fibrillation.

Schlüsselwörter

Ionenkanalerkrankungen - Brugada-Syndrom - Long-QT-Syndrom - Short-QT-Syndrom - stressinduzierte polymorphe Kammertachykardien - idiopathisches Kammerflimmern

Key words

ion channel diseases - Brugada syndrome - long QT syndrome - short QT syndrome - catecholaminergic polymorphic ventricular tachycardia - idiopathic ventricular fibrillation

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