In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'IKr' channels. This mutation could modify clinical phenotypes for this patient.
- Brugada syndrome
- Short QT syndrome
- Sudden death
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine