Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family
Mari IchikawaSeiko OhnoYusuke FujiiJunichi OzawaKeiko SonodaMegumi FukuyamaKoichi KatoHiromi KimuraHideki ItohHideki HayashiMinoru Horie
Author information
JOURNALS OPEN ACCESS

2016 Volume 55 Issue 3 Pages 259-262

Details
Abstract

Congenital long QT syndrome (LQTS) is an important cause of sudden cardiac death in young people without any other structural disease. Mutations in the genes encoding the cardiac ion channels or associated proteins have been shown to result in ion channel dysfunction and thereby causing LQTS. We investigated a Japanese family with LQTS for four generations, with the female family members showing severe symptoms. We performed genetic tests for LQTS-related genes and identified a heterozygous KCNH2 mutation (p.K638del). In the family, the KCNH2 mutation had a very high multigenerational inheritance, and female genotype positives showed more severe phenotypes.

Information related to the author
© 2016 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top