Pediatria. Journal named after G.N. Speransky | VOL. 101


Publication Date Jun 17, 2022


Primary electrical heart diseases (PEHDs) are hereditary orphan life-threatening conditions leading to a sudden cardiac death in young adults in the absence of structural heart disease. Among the most common and studied diseases of this group are: long QT syndrome (LQTS), catecholaminergic ventricular tachycardia, Brugada syndrome, short QT syndrome, early ventricular repolarization syndrome. Also, this group of diseases includes congenital sick sinus syndrome, progressive cardiac conduction defect, idiopathic ventricular fibrillation, familial atrial fibrillation and a number of cases (from 5 to 10%) of the sudden cardiac death syndrome in infants. The total prevalence of PEHDs in the pediatric population is quite high and is about 1:2000, mainly due to long QT syndrome. PEHDs are poorly identified by the standard clinical approach, at the same time a delay in diagnosing and prescribing specific therapy may lead to fatal consequences and sudden cardiac death of the child at the first-ever syncope. The vast majority of PEHDs genes identified to date encode subunits of cardiac ion channels or proteins, which interact with ion channels and regulate their functions. The advent of the next generation sequencing led to a shift in most DNA diagnostics laboratories from screening single genes or small gene panels to examining of whole exome or whole genome data. These diseases, especially LQTS, have become unique cardiological models for clinical and genetic studies, analysis of genotype-phenotype correlations and the development o...


Cardiac Death In Young Adults Progressive Cardiac Conduction Defect Long QT Syndrome Absence Of Structural Heart Disease QT Syndrome Analysis Of Genotype-phenotype Correlations Prevention Of Sudden Cardiac Death Basics Of Diagnostics Short QT Standard Clinical Approach

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