두 가계에서 진단된 소아 Brugada 증후군

두 가계에서 진단된 소아 Brugada 증후군

Childhood Brugada Syndrome in Two Korean Families

(포스터):
Release Date : 2009. 10. 23(금)
Yun Sik Lee, MD¹, Jae Suk Baek, MD¹, So Yeon Kim, MD², Sang Won Seo, MT³, Bo Sang Kwon, MD¹, Gi Beom Kim, MD¹, Eun Jung Bae, MD,PhD¹, Sung Sup Park, MD, PhD², Chung Il Noh, MD,PhD¹
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea¹, Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea², Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea³
이윤식¹, 백재숙¹, 김소연², 서상원³, 권보상¹, 김기범¹, 배은정¹, 박성섭², 노정일¹
서울대학교 의과대학 소아청소년과학교실¹, 서울대학교 의과대학 진단검사의학과학교실², 서울대학교병원 진단검사의학과³

Abstract

Since Brugada described patients with typical electrocardiogram (ECG) pattern and sudden cardiac death as a new clinical entity, Brugada syndrome has been diagnosed increasingly. This syndrome is known as an inherited disease via an autosomal dominant trait, and SCN5A mutation have been found in 20~25% of Brugada syndrome. Because Brugada syndrome primarily manifests in adulthood, only a little information is available about Brugada syndrome during childhood. Although there are several reports on adult Brugada syndrome in Korea, pediatric Brugada syndrome has not been reported. Herein, we report childhood Brugada syndrome in two families. One infantile Brugada syndrome patient and his family had SCN5A novel mutation (c.4035G>T, p.W1345C, heterozygote) in the domain III of the sodium channel.

Keywords: Brugada syndrome, childhood, tachycarida, ventricular