Phenotypes of mutations related to voltage‐dependent sodium channels on children and adolescents

Abstract

Cardiac channelopathies are a heterogeneous group of inherited cardiac diseases that are associated with mutations in the genes that encode the expression of cardiac ion channels. In view of this, it can be mentioned that the main hereditary arrhythmias in children and adolescents, caused by dysfunction of the ion channels, are Brugada Syndrome (BrS) and Long QT Syndrome (LQTS).However, few studies address the physiological effects of these conditions on children and adolescents. Thus, the aim of this study is to describe the mutation phenotype related to voltage-gated sodium channels in children and adolescents. A search was performed in the literature of PubMed, Scielo, and Google scholar. The search was limited to articles written in the last 5 years, so articles published between 2014 and 2019 were included. Among 2196 studies identified through a systematic literature review, 30 studies related to the theme were identified for a complete review and after applying exclusion criteria, 4 articles were included in the results of this study. As the most frequently observed channelopathy, BrS was also more identified in children and adolescents, characterized by episodes of syncope or sudden cardiac death. LQTS shows clinical manifestations with a mild phenotype and good prognosis, although it is necessary to monitor and correct serum electrolyte disturbances to prevent ventricular arrhythmias and, consequently, sudden death in patients with the pathology. The aim of this study is to find the general phenotypes related to genetic mutations of voltage-gated sodium channels, in a population aged from 7-to 14-year-old.

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

“…Channelopathies are a heterogenous group of cardiac diseases possibly responsible for the appearance of life‐threatening arrhythmias, leading sometimes to sudden death (Ferreira et al, 2022). Several channelopathies, such as Brugada syndrome (BrS), long QT syndrome (LQTS), short QT syndrome (SQTS), and J‐wave syndrome (JWS), catecholaminergic polymorphic ventricular tachycardia (CPVT), cardiac conduction disorder (CCD), and unexplained cardiac arrest (UCA) can be classified as acquired or inherited and the latter are mainly due to mutations in genes encoding cardiac ion channels (Chahine et al, 2022).…”