Genetic-based risk of sudden arrhythmic death in the Brugada syndrome

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591086
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Circulatory organs internal medicine
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: AIBA Takeshi 独立行政法人国立循環器病研究センター, 病院, 医長 (40574348)
• Co-Investigator(Kenkyū-buntansha): SHIMIZU Wataru 日本医科大学, 循環器内科, 教授 (50399606) ; TAKAKI Hiroshi 国立循環器病研究センター, 研究所循環動態制御部, 室長 (80197053) ; MATSUURA Hiroshi 滋賀医科大学, 医学部・細胞機能生理学, 教授 (60238962)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: Brugada syndrome / genetics / sudden death / electrophysiology / Na channels / ventricular fibrillation

Outline of Final Research Achievements

We reported that common variants at SCN5A-SCN10A and HEY2 are associated with a high risk of sudden cardiac death (SCD) in Brugada syndrome, and a nonsynonymous polymorphism in semaphorin 3A as a risk factor for SCD due to VF. The genetic defects in a His-Purkinje system transcription factor, IRX3, are associated with lethal cardiac arrhythmias in conjunction with Na channel defect. These findings suggest that Brugada or related sudden arrhythmic death syndrome are not a monogenic disease but associated with multiple mechanisms.
We also non-invasively evaluated risk of sudden arrhythmic death in the Brugada or J-wave syndrome using standard 12-lead ECG and multi-channel magnetocardiography (MCG).

Free Research Field

循環器内科学