Zusammenfassung
Die Charakterisierung krankheitsverursachender Gendefekte hat in den vergangenen Jahre wichtige Einblicke in die molekulare Pathogenese von Herzrhythmusstörungen ermöglicht. Für die primär elektrischen Erkrankungen des Herzens, die in erster Linie das lange und kurze QT-Syndrom, das Brugada-Syndrom und katecholaminerge polymorphe Kammertachykardien umfassen, konnten Mutationen in Genen nachgewiesen werden, die unterschiedlichste kardiale Ionenkanäle kodieren. Die resultierenden elektrophysiologischen Veränderungen spielen eine kritische Rolle bei der Entstehung und Aufrechterhaltung teilweise lebensbedrohlicher Herzrhythmusstörungen. Die Möglichkeit, ihre genetische Grundlage zu ermitteln, eröffnet für die Praxis zum einen die Möglichkeit einer genauen Diagnosestellung, zum anderen ist im Einzelfall auch eine Risikostratifizierung bezüglich eines plötzlichen Herztodes möglich. Im Hinblick auf den therapeutischen Nutzen einer genetischen Diagnostik müssen die einzelnen primär elektrischen Erkrankungen differenziert werden.
Abstract
The characterization of gene disorders has provided important insights into the pathophysiological understanding of cardiac arrhythmias. Primary electrical disorders including the long and short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia have been associated with mutations in various ion channel genes. These mutations play a critical role in the initiation as well as maintenance of life-threatening arrhythmias. The option of exploring the genetic background has given the opportunity of diagnosing a familiar disorder and in individual cases significantly contributes to risk stratification. The therapeutic benefit of genetic testing is still limited but plays an increasing role in part of the primary electrical diseases.
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Eckardt, L., Haverkamp, W. Ionenkanalerkrankung: vom EKG bis zur genetischen Diagnostik. Kardiologe 1, 283–296 (2007). https://doi.org/10.1007/s12181-007-0033-1
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DOI: https://doi.org/10.1007/s12181-007-0033-1