Double SCN5A mutation underlying asymptomatic Brugada syndrome

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概要

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• 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.

• Heart Rhythm Society Published by Elsevier Inc.の論文

著者

• Yoshida H

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Yokoshiki Hisashi

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Takagi Yasuhiro

  Division of Cardiology, Department of Medicine, Nihon University School of Medicine

• Makita Naomasa

  Japanese Brugada Multicenter Registry By The Minister Of Health Labour And Welfare National Cardiova

• Makita Naomasa

  Deaprtment Of Cardiovascular Medicine Hokaido University Graduate School Of Medicine

• Tashiro Misako

  The First Department Of Internal Medicine Niigata University School Of Medicine

• Maruo Takeshi

  Division Of Cardiology Department Of Internal Medicine National Cardiovascular Center

• Makiyama Takeru

  Department Of Cardiovascular Medicine Graduate School Of Medicine Kyoto University

• Tamura Yasuo

  Division Of Cardiology Department Of Medicine Nihon University School Of Medicine

• Matsuyama Takaaki

  Division Of Pathology National Cardiovascular Center

• Sasaki Koji

  Sohen Central Hospital

• Sasaki Kohji

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Tsutsui Hiroyuki

  Department Of Cardiovascular Medicine Kyushu University Graduate School Of Medical Sciences

• Okumura Yasuo

  Division Of Cardiology Department Of Medicine Nihon University School Of Medicine

• Nakazawa Makoto

  Pediatric And Lifelong Congenital Cardiology Institute Southern Tohoku General Hospital

• Tsutsui Hiroyuki

  Department Of Cardiovasucular Medicine Graduate School Of Medical Sciences Kyushu University

• Yokoi Hisataka

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Matsuyama Takaaki

  Department Of Pathology National Cardiovascular Center

• Takagi Yasuhiro

  The Second Department Of Medicine Nihon University Shool Of Medicine

• Yasugi Tadao

  Division Of Cardiology Department Of Medicine Nihon University School Of Medicine

• Takagi Yasuhiro

  Division Of Cardiology Department Of Medicine Nihon University School Of Medicine

• Makita Naomasa

  Department Of Cadiovascular Medicine Hokkaido University Graduate School Fo Medicine

• Tsutsui Hiroyuki

  Departments Of Cardiovascular Medicine Graduate School Of Medical Sciences Kyushu University:japanese Coronary Intervention Study (jcis) Group

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