Journal
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 1, Pages 51-55Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2015.74
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Funding
- Ministry of Health, Labour and Welfare, Japan [H24-033, H26-040]
- Nippon Medical School
- JSPS KAKENHI Grant [26461130]
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Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible prevalence of sudden cardiac death. The genetic testing plays an important role in the diagnosis of LQTS. A total of 15 genes have been reported for autosomal-dominant forms of Romano-Ward-type congenital LQTS and 2 genes for autosomal-recessive forms of the Jervell and Lange-Nielsen syndrome. In this review, we summarize the recent advances in genetics of LQTS and briefly describe forward perspectives of LQTS investigation.
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