Key result
Childhood Brugada syndrome was diagnosed in two Korean families, revealing a novel SCN5A mutation (c.4035G>T, p.W1345C) in a one-month-old infant and typical ECG patterns unmasked by flecainide in others.
Case Report (n=3)
No
This report provides the first documented cases of pediatric Brugada syndrome in Korea, identifying a novel SCN5A mutation.
May warrant genetic evaluation in infants with suggestive ECGs; extends SCN5A spectrum in pediatric Brugada but remains hypothesis-generating.
Since the first descriptions of Brugada as a new clinical entity defined by sudden cardiac death in patients with typical electrocardiogram (ECG) patterns, Brugada syndrome (BS) has been increasingly diagnosed. This syndrome is known as a disease that is inherited via an autosomal dominant trait, and the SCN5A mutation has been found in 20-25% of BS patients. Because BS primarily manifests in adulthood, little information is available on BS during childhood. Although there have been several reports on adult BS in Korea, pediatric BS has not been reported. Herein, we report on childhood BS in two families. One infantile BS patient and his family had a novel SCN5A mutation (c.4035G>T, p.W1345C, heterozygote) in domain III of the sodium channel.
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Lee et al. (2010) conducted a case report in Childhood Brugada Syndrome (n=3). SCN5A mutation and flecainide challenge was evaluated on Electrocardiographic changes and genetic mutation identification. Childhood Brugada syndrome was diagnosed in two Korean families, revealing a novel SCN5A mutation (c.4035G>T, p.W1345C) in a one-month-old infant and typical ECG patterns unmasked by flecainide in others.
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