Abstract
Aim. To summarize the currently available information on the pathophysiological mechanisms, clinical management, diagnosis and therapeutic approaches in congenital long QT syndrome. Key points. Congenital long QT syndrome is a hereditary disease characterized by an increased ventricles repolarization time, and, consequently, a lengthening of the QT interval on the electrocardiogram. It is accompanied by fatal cardiac arrhythmias, episodes of syncope and cases of sudden cardiac death. Sixteen genes associated with hereditary long QT syndrome have been described, and genetic testing has become an integral part of the diagnosis of this pathology and risk stratification. Conclusion. New knowledge about the structure of these proteins contributes to a deeper understanding of the problem of channelopathy, in particular, long QT syndrome, which is the most well-studied of this group of diseases. In addition, continued progress in understanding the genetic basis and mechanisms of development of long QT syndrome leads to the emergence of more effective, targeted, individualized treatment strategies for the syndrome. Keywords: congenital long QT syndrome, еlectrocardiography, long QT interval, torsades de pointes, ion channels, ventricular tachycardiа.
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