Grant: Operating Grant

30,000 Canadians die suddenly every year. Some of these deaths are in young and seemingly healthy individuals, who have inherited a condition that causes irregular heart rhythms. The most common condition is Long QT Syndrome (LQTS), named for the abnormally long pause as the heart muscle prepares to contract, which can be seen on an electrocardiogram (EKG). LQTS can cause fainting and sudden unexpected death (SUD), but may not be identified with routine cardiac testing, as patients' EKGs are not always abnormal. Accurately diagnosing LQTS and screening potentially affected family members is crucial to preventing SUD. This project hopes to discover better methods of detecting LQTS by studying the relationship of LQTS to the entire human genetic code, developing teaching tools for healthcare professionals, and improving public awareness. An anonymous computerized database of LQTS patient information (including EKGs, test results, genetic screening and family history) will be created. The data will help identify which tests are most useful in diagnosing LQTS and which treatments are best suited for the condition. Blood samples for genetic research will also be collected and analyzed. The applicant has researched genetic heart rhythm conditions for 15 years and is a national leader in the field. He has previously established a national network of inherited heart rhythm experts, whose work has been recognized at scientific meetings nationally and internationally. This study will be unique for its national collaboration and ability to gather a large quantity of quality information all in one database about this rare and complex condition. Often the first signs of LQTS are fainting or SUD, and this project will combine healthcare with human genetic code information to improve healthcare provider's ability to recognize LQTS in individuals and families, and provide treatment that will save lives.