PHENOTYPES OF MUTATIONS RELATED TO DEPENDENT SODIUM VOLTAGE 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 English in the last 5 years,
so articles published between January 2014 and January 2019 were
included. Among 2196 studies identified through a systematic literature
review, thirty studies related to the theme were identified for complete
review and after applying exclusion criteria 4 articles were included in
the results of this research. 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.