Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family

作者：Ichikawa Mari; Ohno Seiko; Fujii Yusuke; Ozawa Junichi; Sonoda Keiko; Fukuyama Megumi; Kato Koichi; Kimura Hiromi; Itoh Hideki; Hayashi Hideki; Horie Minoru^*

来源：Internal Medicine, 2016, 55(3): 259-262.

DOI：10.2169/internalmedicine.55.6014

• long QT syndrome
• multigenerational inheritance
• KCNH2
• sex hormones

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.

• 出版日期2016