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PubMed 24871449


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Automatically associated channels: KCNQ1 , Kv7.1 , Nav1.5



Title: High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

Authors: Kazuhiro Takahashi, Wataru Shimizu, Akira Miyake, Taisuke Nabeshima, Mami Nakayashiro, Hitoshi Ganaha

Journal, date & volume: Circ. J., 2014 , 78, 1974-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24871449


Abstract
Genetic testing for long QT syndrome (LQTS) is now in clinical practice. We conducted molecular genetic analyses to definitively diagnose LQTS and to determine its subtypes for gene-specific treatment. We conducted a retrospective study to determine the characteristics of schoolchildren with LQTS living on the Okinawa Islands.The study population included children identified in a school-based electrocardiographic (ECG) screening program for cardiovascular diseases who were referred to Okinawa Children's Medical Center between 2007 and 2012; 23 children met the diagnostic criteria for LQTS. Of them, 17 were genotype-positive and 14 were found to harbor theSCN5AE1784K mutation exclusively among the LQTS genotype-positive children. The children were divided into genotype-positive and -negative groups. Clinical characteristics and ECG data were analyzed and compared. The median Schwartz score was 3. The median QT interval was 521 ms.The major finding is that the prevalent subtype of LQTS in Okinawa is discordant with other cohorts living in other regions of Japan or overseas. We cannot exclude the possibility of the presence of a specific founder mutation in this geographically clustered population, particularly considering that the hospital is the only tertiary heart center for children in Okinawa. However, this uniquely high prevalence of theSCN5AE1784K mutation serves as a compelling justification to conduct a larger study.