The ECG of a 6-year-old girl.

A 12-channel ECG and the ECG patterb from Holter monitoring of a 6-year-girl are presented.

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.

Brugada syndrome (BrS) is an inherited cardiac arrhythmia characterized by ST-elevation, negative T-wave, and a high risk of sudden cardiac death (SCD) due to ventricular tachycardia. It is associated with mutations in over 20 genes but only is recommended for routine genetic screening. This study was performed to estimate diagnostic yield and pathogenicity assessment of rare genetic variants in the genes encoding Nav1.

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.

Background: The gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects.

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of : A Potential Source of Misinterpretation.

Primary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is still challenging. We report an accurate multistage assessment of a rare genetic variant in the gene using next-generation sequencing (NGS) techniques and Sanger sequencing.

[Cardiovascular Risks Associated with the use of Performance-Enhancing Stimulants].

The number of people involved in regular exercise and sports is increasing. Not infrequently, this is associated with intake of sports biologically active food supplements (BAS) and stimulators of physical ability. Data has been reported on the frequency of use of physical ability stimulators among professional athletes and on the use of the most popular food supplements among young people.