Key result
Mutations related to voltage-gated sodium channels in children and adolescents most frequently presented as Brugada Syndrome with syncope or sudden cardiac death, or Long QT Syndrome with a mild phenotype.
Why the study?
Few studies address the physiological effects of cardiac channelopathies related to voltage-gated sodium channel mutations in children and adolescents.
Systematic Review (n=4)
In children and adolescents, Brugada Syndrome presents with severe manifestations like syncope or sudden cardiac death, whereas Long QT Syndrome typically has a milder phenotype requiring electrolyte monitoring.
Answers are grounded in this paper and cite their sources.
Prompts early genetic evaluation and syncope monitoring in symptomatic youth; confirms distinct Brugada versus Long QT phenotypes in sodium channel mutations.
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.
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Ferreira et al. (2020) conducted a systematic review in Cardiac channelopathies (Brugada Syndrome and Long QT Syndrome) (n=4). Mutations related to voltage-gated sodium channels was evaluated on Mutation phenotype and clinical manifestations. Mutations related to voltage-gated sodium channels in children and adolescents most frequently presented as Brugada Syndrome with syncope or sudden cardiac death, or Long QT Syndrome with a mild phenotype.
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