Korean Circ J.  2010 Mar;40(3):143-147. 10.4070/kcj.2010.40.3.143.

Childhood Brugada Syndrome in Two Korean Families

• Lee YS
• Baek JS
• Kim SY
• Seo SW
• Kwon BS
• Kim GB
• Bae EJ
• Park SS
• Noh CI

• KMID: 2094076
• DOI: http://doi.org/10.4070/kcj.2010.40.3.143

Abstract

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.

Keyword

Brugada syndrome; Tachycardia, ventricular

MeSH Terms

Adult
Brugada Syndrome
Death, Sudden, Cardiac
Electrocardiography
Humans
Korea
Sodium Channels
Tachycardia, Ventricular
Sodium Channels

Figure

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  Fig. 1 Serial change of ECG with age in case 1. A: ECG obtained at 1 month of age. Normal sinus rhythm with right axis deviation and possible RBBB pattern are observed. B: ECG at 4 months of age. Significant QRS widening in right precordial leads with saddle back ST elevation in the V3 lead is observed (arrow). C: ECG at 6 months. Definitive ST elevation with T wave inversion of Brugada type 1 pattern is observed (arrows). ECG: electrocardiogram, RBBB: right bundle branch block.

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  Fig. 2 Parental ECG changes in case 1 on flecainide challenge tests. A: baseline ECG record of the father in case 1. No definite abnormality, but suspicious ST elevation is observed. B: ECG of the father in case 1 obtained after flecainide challenge. Equivocal coved ST-segment elevation followed by T wave inversion (type 1 Brugada pattern) is observed (arrow). C: baseline ECG record of the mother in case 1. Normal sinus rhythm without ST-segment elevation is observed. D: ECG of the mother in case 1 obtained after flecainide challenge. Considerable QRS widening with coved ST-segment elevation followed by T wave inversion (type 1 Brugada pattern) is observed in V1 and V2 leads (arrows). ECG: electrocardiogram.

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  Fig. 3 DNA sequencing analysis for the cardiac sodium channel (SCN5A). A: study of normal control individual. B: genetic study of case 1 revealed a novel mutation comprised of a G to T base substitution at nucleotide position 4035 that led to replacement of tryptophan by cysteine at codon 1345. C: DNA sequencing analysis of the mother in case 1. The same SCN1A gene mutation as in case 1 was found in the genetic study of the mother. DNA: deoxyribonucleic acid.

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  Fig. 4 ECG changes of patients in case 2 after the flecainide challenge test. A: ECG of a 12 year old boy after the flecainide challenge test. Typical coved ST-segment elevation followed by T wave inversion is observed on V1 and V2 leads. B: ECG of a 10 year old girl after the flecainide challenge test. Note the typical Brugada pattern ST-segment elevation on V1 and V2 leads. ECG: electrocardiogram.

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