Double SCN5A mutation underlying asymptomatic Brugada syndrome

Yokoi, Hisataka; Makita, Naomasa; Sasaki, Koji; Takagi, Yasuhiro; Okumura, Yasuo; Nishino, Tetsuo; Makiyama, Takeru; Kitabatake, Akira; Horie, Minoru; Watanabe, Ichiro; Tsutsui, Hiroyuki

Double SCN5A mutation underlying asymptomatic Brugada syndrome

Yokoi, Hisataka; Makita, Naomasa; Sasaki, Koji et al.

Heart Rhythm, 2005, 2(3), 285-292

Permalink : https://hdl.handle.net/2115/16957

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アクセス権	open access
URI	https://hdl.handle.net/2115/16957
タイトル	Double SCN5A mutation underlying asymptomatic Brugada syndrome
著者	Yokoi, Hisataka ; Makita, Naomasa ; Sasaki, Koji ; Takagi, Yasuhiro ; Okumura, Yasuo ; Nishino, Tetsuo ; Makiyama, Takeru ; Kitabatake, Akira ; Horie, Minoru ; Watanabe, Ichiro ; Tsutsui, Hiroyuki
著者名 Yokoi, Hisataka
著者名 Makita, Naomasa
著者名 Sasaki, Koji
著者名 Takagi, Yasuhiro
著者名 Okumura, Yasuo
著者名 Nishino, Tetsuo
著者名 Makiyama, Takeru
著者名 Kitabatake, Akira
著者名 Horie, Minoru
著者名 Watanabe, Ichiro
e-Rad_Researcher 70264017 著者名 Tsutsui, Hiroyuki
言語	英語
キーワード	Brugada syndrome
	Asymptomatic mutation carrier
	Patch clamp
	Sodium channel
	Genetics
	Slow inactivation
	SCN5A
	Ventricular fibrillation
発行日	2005-03
出版者	Heart Rhythm Society Published by Elsevier Inc.
収録物名	Heart Rhythm
巻(号)	2(3)
ページ	285-292
抄録	Objectives: The purpose of this study was to identify risk markers in patients with Brugada syndrome. Background: Patients with Brugada syndrome who experience syncope or aborted sudden death are at high risk for recurrent lethal arrhythmias. The prognosis and therapeutic approaches in asymptomatic individuals with a Brugada-type ECG (asymptomatic Brugada syndrome) are controversial. Methods: We genetically screened 30 asymptomatic probands (29 men and 1 woman; mean age 47.1 years) exhibiting a spontaneous Brugada-type ECG. Family members of patients with Brugada syndrome were excluded from the study. Results: Twenty-nine of 30 patients (96.7%) remained symptom-free for at least 3 years. One patient (case 1) with a family history of sudden death died suddenly during sleep. Ventricular fibrillation was induced by programmed electrical stimulation in 14 of 18 subjects (78%), but none of these 18 subjects developed spontaneous ventricular arrhythmias. Genetic screening failed to identify SCN5A mutations in most cases but demonstrated a novel double missense mutation (K1527R and A1569P) located on the same allele in another asymptomatic subject (case 2). Heterologously expressed mutant Na channels exhibited a negative shift of steady-state inactivation (9.2 mV) and enhanced slow inactivation, suggesting this individual harbors a subclinical channel dysfunction compatible with symptomatic Brugada syndrome. Conclusions: Asymptomatic individuals with a Brugada-type ECG generally have a better prognosis than their symptomatic counterparts, but a subgroup of these individuals may have a poor prognosis. Severe Na channel dysfunction as a result of SCN5A mutations may not be sufficient to cause symptoms or arrhythmias in patients with Brugada syndrome, suggesting unknown factors or modifier genes influence arrhythmogenesis.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
PISSN	1547-5271
関連情報	PMID 15851320
関連情報	URI http://www.sciencedirect.com/science/journal/15475271
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.hrthm.2004.11.022