Childhood Brugada Syndrome in Two Korean Families

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, an...

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Detalles Bibliográficos
Autores principales: Lee, Yun Sik, Baek, Jae Suk, Kim, So Yeon, Seo, Sang Won, Kwon, Bo Sang, Kim, Gi Beom, Bae, Eun Jung, Park, Sung Sup, Noh, Chung Il
Formato: Texto
Lenguaje:English
Publicado: The Korean Society of Cardiology 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844982/
https://www.ncbi.nlm.nih.gov/pubmed/20339501
http://dx.doi.org/10.4070/kcj.2010.40.3.143
Descripción
Sumario: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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