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
| Project/Area Number |
24591599
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| 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 |
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| 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.
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| Free Research Field |
小児科学、小児循環器病学、胎児・新生児学
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