Genetic Basis of Sudden Cardiac Death in the Young

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Sudden cardiac death is a devastating complication of a variety of cardiovascular disorders. In the young, sudden cardiac death can be caused by both structural abnormalities of the heart, e.g. cardiomyopathies, and electrical abnormalities of the heart, such as familial long QT syndrome. In most young sudden cardiac deaths, these cardiovascular disorders are caused by underlying gene abnormalities which place individuals at a higher risk of sudden death. The aim of this project is to understanding the genetic basis of sudden cardiac deaths in the young. In particular, the study will identify and characterise the specific genes which cause sudden cardiac death, and what the underlying mechanism is regarding how a single gene defect can lead to such a devastating clinical outcome. Understanding the various cardiovascular diseases that cause sudden death, clinically screening at-risk individuals, coupled with the initiation of appropriate therapeutic and preventative strategies such as implantation of cardioverter defibrillators will most likely reduce the incidence of sudden cardiac death in the young of our community. Elucidation of the underlying genetic defects which cause many of these cardiac disorders will substantially improve diagnostic accuracy, will be invaluable for genetically screening at-risk individuals and by making the diagnosis earlier in life, will create a larger therapeutic window to allow initiation of therapies to prevent complications of disease, including sudden death.