title: High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
abstract: BACKGROUND
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatric Cardiology, Okinawa Children's Medical Center.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Takahashi
authors.forename: Wataru
authors.initials: W
authors.lastname: Shimizu
authors.forename: Akira
authors.initials: A
authors.lastname: Miyake
authors.forename: Taisuke
authors.initials: T
authors.lastname: Nabeshima
authors.forename: Mami
authors.initials: M
authors.lastname: Nakayashiro
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ganaha
mesh_terms: D000293:Adolescent; D044466:Asian People; D002648:Child; D004562:Electrocardiography; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008133:Long QT Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D015995:Prevalence; D012189:Retrospective Studies
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human