A challenge for mutation specific risk stratification in long QT syndrome type 1.

Noriaki Yagi,Hideki Itoh,Takashi Hisamatsu,Yukinori Tomita,Hiromi Kimura,Yusuke Fujii,Takeru Makiyama,Minoru Horie,Seiko Ohno

Journal of Cardiology（2018）

引用 4|浏览11

暂无评分

摘要

•Correlations between mutation location and phenotype in long QT syndrome type 1 have been well reported.•Patients with V254M or S277L suffered severe cardiac symptoms.•Phenotypes of long QT syndrome patients were predicted by the mutation themselves.•Patients with KCNQ1 should be evaluated by their own mutations.

查看译文

关键词

Long QT syndrome,KCNQ1,Mutation location,Sudden death

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要