Effective diagnosis and establishment of the therapy for catecholaminergic polymorphic ventricular tachycardia

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09689
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Cardiovascular Center Research Institute (2017); Shiga University of Medical Science (2015-2016)
• Principal Investigator: Ohno Seiko 国立研究開発法人国立循環器病研究センター, 研究所, 部長 (20610025)
• Co-Investigator(Kenkyū-buntansha): 堀江 稔 滋賀医科大学, 医学部, 教授 (90183938)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 家族性突然死症候群 / カテコラミン誘発性多形性心室頻拍 / 不整脈

Outline of Final Research Achievements

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease causing sudden cardiac death due to polymorphic ventricular tachycardia leading to VF in young patients. The major cause of CPVT is mutations in RYR2 with 105 exons, therefore the genetic analysis of CPVT has been difficult. However, we employed target gene sequencing and next generation sequencing system, and now, we can identify genetic mutations effectively.
Long QT syndrome (LQTS) is an inherited disease similar to CPVT, especially, CPVT is sometimes misdiagnosed as LQT type 1 (LQT1). We compared the results of exercise stress test in patient with LQT1 or CPVT and found that the QT shortenings were prominent in CPVT patients. We construct a system for differentiation between CPVT and LQT1.

Free Research Field

循環器内科