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2014 Fiscal Year Final Research Report

Investigation of the correlation between genetic background and clinical phenotype in congenital long QT syndrome diagnosed in fetal and neonatal life

Research Project

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Project/Area Number 24591599
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Embryonic/Neonatal medicine
Research InstitutionUniversity of Tsukuba

Principal Investigator

HORIGOME Hitoshi  筑波大学, 医学医療系, 教授 (50241823)

Project Period (FY) 2012-04-01 – 2015-03-31
Keywords遺伝性不整脈 / 先天性QT延長症候群 / 致死性不整脈 / 胎児・新生児 / 胎児徐脈 / イオンチャネル / 遺伝子検査
Outline of Final Research Achievements

Nationwide survey was conducted on early-onset congenital long QT syndrome (LQTS), and revealed that patients who showed malignant clinical course with life-threatening ventricular tachycardia or atrioventricular block (AVB) were mostly those with LQTS type 2, 3, and 8. Functional 2:1 AVB was considered characteristic sign of malignant forms of early-onset LQTS. To save the lives of these patients, multiple-pharmacotherapy, including beta-blocker, sodium channel blocker (mexiletine) and magnesium, combined with pacemaker implantation is recommended.
We also analyzed the T-wave morphology on ECG by the newly-developed independent component analysis (ICA) as well as principal component analysis (PCA). Additional components which constitute the T wave were detected by ICA and a high PCA ratio (second/first eigenvector ratio) was obtained in patients with LQTS, indicating usefulness of ICA and PCA for diagnosis of LQTS.

Free Research Field

小児科学、小児循環器病学、胎児・新生児学

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Published: 2016-06-03  

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