AI Summary & Key Takeaways
AI InsightWe describe a 9-year-old Turkish boy witha family history of sudden cardiac death, who presented with chest pain andfever-induced expression of the Brugada syndrome phenotype that might beassociated with a mutation in SCN5A gene.
📌 3 Key Takeaways
Özet
Brugada syndrome, an arrhythmogenic disease, occurs due to mutationsinvolving cardiac sodium channels. It is characterized by persistent or transientST-segment elevation in the right precordial electrocardiogram leads that couldbe unmasked by several circumstances, with fever particularly. Molecular andcellular mechanisms leading to Brugada syndrome have not been completelyelucidated. Mutations of the SCN5A gene encoding the pore-forming α-subunitof the cardiac sodium channel protein have been attributed in the moleculardiagnosis. Although this syndrome is well-known in adults, it is less frequentlyreported in infants and children. We describe a 9-year-old Turkish boy witha family history of sudden cardiac death, who presented with chest pain andfever-induced expression of the Brugada syndrome phenotype that might beassociated with a mutation in SCN5A gene.