Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Korean Circ J. 2010 Mar;40(3):143-7. doi: 10.4070/kcj.2010.40.3.143. Epub 2010 Mar 24.
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.
自 Brugada 作为一种新的临床实体首次被描述以来，其特征为具有典型心电图（ECG）模式的患者发生心源性猝死，Brugada 综合征（BS）的诊断率不断上升。该综合征是一种通过常染色体显性遗传的疾病，在 20-25%的 BS 患者中发现了 SCN5A 突变。由于 BS 主要在成年期表现出来，因此关于儿童时期 BS 的信息很少。尽管韩国已经有几项关于成人 BS 的报告，但还没有关于儿科 BS 的报告。在这里，我们报告了两个家族的儿童 BS。一名婴儿 BS 患者及其家族在钠离子通道的 III 域中存在一种新的 SCN5A 突变（c.4035G>T，p.W1345C，杂合子）。
