SOVREMENNAYA PEDIATRIYA.2018.3(91):86-91; doi 10.15574/SP.2018.91.86

Nedelska S. N., Zhylenko I. A., Lyutikova G. V
Zaporizhzhia State Medical University, Ukraine
CI «Zaporizhzhia City Multi–field Children's Hospital No.5», Ukraine

Objective: to introduce to physicians the orphan congenital syndromes that can lead to life threatening arrhythmias (torsade-de-pointes or ventricular fibrillations) and can promote sudden death syndrome, suggest treatment algorithm and preventive care to avoid fatal outcomes in these patients. This article deals with the orphan genetic pathology from the group of «channelopathy» — Jerwell–Lange–Nielsen syndrome, which is manifested as a long QT syndrome and sensorineural hearing loss. Clinical observation of this syndrome in a child is given. Other types of inherited long QT syndrome with mechanisms of their realizing, genetic features of peculiar syndromes, clinics and ECG signs, diagnostic criteria and «alarming» symptoms that require complete patient examining are highlighted in the article. Recommendations for urgent therapy and prevention of fatal outcome are proposed as well.

Key words: long QT syndrome, Jerwell–Lange–Nielsen syndrome, channelopathy, sudden death syndrome.

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