The risk of long QT syndrome in the pediatric population

Advances in understanding the biophysical underpinnings of long QT syndrome have provided growing insight into the risk of this syndrome in the pediatric population. This review focuses on developments in this area as reflected in the recent literature.

QT interval prolongation on the surface ECG is the hallmark of long QT syndrome. This prolongation reflects protracted ventricular repolarization, primarily due to mutations in genes coding for cardiac ion channels. To date, 12 different genes have been implicated, and current genetic testing methods can provide a specific diagnosis in approximately 70% of patients. Clinical indicators, including age, sex, corrected QT duration, and prior syncope are the most powerful predictors of future life-threatening cardiac events. However, diagnosis, risk assessment, and therapeutic strategies are being guided by genetic analysis to an increasing degree.

Impressive advancements have been made in understanding the genetic and clinical determinants of this heterogeneous syndrome. As genetic testing techniques become more robust, the ability to assess risk in affected individuals and tailor therapy will improve.