Long-QT Trafficking Map.

The editorial in Circulation discusses the genetic basis of long-QT syndrome, focusing on the KCNH2 gene mutations that cause the condition. Genetic testing is recommended for patients with long-QT syndrome to guide treatment decisions, but challenges remain in interpreting the significance of genetic variants. A recent study by O'Neil and colleagues used a high-throughput assay to assess the effects of thousands of KCNH2 gene variants on channel trafficking, shedding light on the pathogenicity of previously uncertain variants. The findings have important clinical implications for the management of long-QT syndrome and highlight the potential of genetic testing in personalized medicine. [Extracted from the article]