Long QT Vulnerability in Sudden Infant Death Syndrome

Lay Summary: Our project “Long QT Vulnerability in Sudden Infant Death Syndrome (SIDs)” investigates whether gene mutations identified in cases of SIDs might have contributed to the infant’s death. We have investigated almost 300 SIDs cases and identified more than a dozen different mutations in several genes previously linked to the congenital long QT syndrome, a disease that increases the risk for deadly ventricular arrhythmias. The Saving tiny Hearts Society research grant enabled us to analyze the functional impact for several of the SIDS-associated mutations, and the data suggest that some of the mutations likely increase the risk for a lethal arrhythmia. We are now testing whether clinically approved drugs can counterbalance the negative impact of the mutation. This work will identify novel therapeutic approaches to treat infants, children, and adults who harbor mutations in long QT susceptibility genes.