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Congenital long QT syndrome. Clinical picture, molecular-genetic variants in symptomatic children

Authors: Kondrykinskiy E.L., Zakirov M.M., Kondrat’eva I.V., Kulakova E.N., Kovalev S.A., Khomarova E.V., Zhidkov M.L., Lesovaya E.E., Lesovoy V.V.

Company: 1Voronezh Regional Children's Clinical Hospital No. 1, Voronezh, Russian Federation
2 Burdenko Voronezh State Medical University, Russian Federation

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Type:  Original articles


DOI: https://doi.org/10.24022/1997-3187-2021-15-2-207-225

For citation: Kondrykinskiy E.L., Zakirov M.M., Kondrat'eva I.V., Kulakova E.N., Kovalev S.A., Khomarova E.V., Zhidkov M.L., Lesovaya E.E., Lesovoy V.V. Congenital long QT syndrome. Creative Cardiology. 2021; 15 (2): 207–25 (in Russ.). DOI: 10.24022/1997-3187-2021-15-2-207-225

Received / Accepted:  05.06.2021 / 24.06.2021

Keywords: cardiac arrest cardiac arrhythmia children canalopathy congenital long QT syndrome cardiomyocyte ion channel sudden cardiac death

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Abstract

Introduction. The congenital long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocar-diogram (ECG) that can lead to sчЇymptomatic ventricular arrhythmias and an increased risk of sudden cardiac death (SCD). These LQTS-triggered symptoms stem from a characteristic life-threatening cardiac arrhythmia known as torsades de pointes or «twisting of the points». LQTS can be congenital or acquired. Objective. The paper aims at studying the circumstances of the diagnosis of congenital LQT syndrome in children of the Voronezh Region, analyzing the age and clinical pecu-liarities of the disease manifestations, as well as ECG parameters and subtypes of the syndrome in children with congenital long QT.

Material and methods. The article presents the results of a retrospective analysis of the circumstances of the disease detection; family history; clinical presentation; results of ECG, echocardiographic (EchoCG) and Holter monitoring findings (HM); survival of children with LQTS according to medical histories and outpatient records of Voronezh Regional Children's Clinical Hospital No. 1. The study included 13 children with con-genital long QT syndrome. The patients were divided into 2 groups: 1st – symptomatic children, 2nd – asymptomatic.

Results. All children of the 1st group were treated with beta-blockers. Two children di-agnosed with Jervell and Lange-Nielson (JLNS) and with 1 molecular genetic variant of the RomanoμWard long QT syndrome were implanted with cardioverter defibrillators. Not a single child died during the observation period from 2013 to 2020.

Conclusions. The congenital long QT syndrome in children is a rare hereditary cardiac disease characterized by an increased risk of sudden cardiac death. There is an obvious need for a thorough analysis of outpatient ECGs in compliance with the methodology for determining the QT interval.

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About Authors

  • Egor L. Kondrykinskiy, Cand. Med. Sci., Pediatric Cardiologist; ORCID
  • Marat M. Zakirov, Head of Department, Pediatric Cardiologist; ORCID
  • Inna V. Kondrat'eva, Cand. Med. Sci., Associate Professor; ORCID
  • Elena N. Kulakova, Cand. Med. Sci., Associate Professor; ORCID
  • Sergey A. Kovalev, Dr. Med. Sci., Professor, Head of Department, Head of the Cardiac Surgery Center; ORCID
  • Elena V. Khomarova, Pediatric Cardiologist; ORCID
  • Mikhail L. Zhidkov, Chief Physician; ORCID
  • Ekaterina E. Lesovaya, Resident Physician; ORCID
  • Vyacheslav V. Lesovoy, Resident Physician; ORCID

Chief Editor

Leo A. Bockeria, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, President of Bakoulev National Medical Research Center for Cardiovascular Surgery


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