Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.

Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially diagnosed with hypercholesterinemia. Next-generation sequencing (NGS) revealed homozygous (p.

[The Brugada Syndrome as a Cause of Sudden Death. Diagnostics and Clinical Manifestations in Children].

The Brugada syndrome is a hereditary potentially arrhythmogenic disease related to the category of channelopathies. It is manifested as syncopal states and sudden death in young people in the absence of structural cardiac disease. The basis of the disease is genetically determined abnormality of function of ionic channels of cardiomyocytes (sodium, potassium, calcium) phenotypically manifesting as sustained or transitory segment-ST elevation and high risk of polymorphic ventricular tachycardia, fibrillation, and sudden death.

[The Brugada Syndrome in a Teenager].

The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD.

[Normal values of temporal parameters of ECG in children according to results of clinico-epidemiological study ECG-screening of children and adolescents in Russian federation].

In order to obtain reliable information about time-domain ECG parameters in Russian children and to analyse their links with physiological changes the Project "ECG screening of children and adolescents of the Russian Federation" was carried out in 2003-2008. Time domain ECG parameters were studied in the representative sample of 5387 healthy individuals aged 0 to 18 years. In each age group, lower and upper limits of the norm for heart rate (HR), P wave, PQ and QRS intervals were defined as 2nd and 98th percentiles of their distribution.

[Remote catamnesis of paroxysmal supraventricular arrhythmias which debuted in childhood].

This article deals with the 23-years assessment of natural history of 57 patients with paroxysmal supraventricular tachycardia debuted in childhood. Variants of clinical course of disease are described: cardiac, syncopal, abdominal, asymptomatic. In absence of treatment majority of paroxysmal tachycardias were characterized by wavy change of their clinical manifestations with periods of pronouncedly increased and decreased activity lasting from 3 to 5 years.