Investigating a genetic cause of left ventricular outflow tract obstruction.

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Congenital heart defects are one of the commonest congenital malformations and have very significant associated mortality and morbidity. In particular abnormalities of the left side of the heart are common. The cause for these defects is not known but a strong genetic component is established. The aim of this study is to identify genes that cause left sided cardiac lesions and to investigate their function.Three patients have been identified with a left sided heart abnormality, as well as an unusual chromosome configuration that leads to disruption of an area of genes. This gives clues as to which genes may cause the heart problem. The project will assess the possible genes by using human, mouse and fish embryo studies. When a particular gene is thought likely to be the cause of the heart lesions, it will be studied for mistakes in samples from other patients. It is only by knowing which genes cause such cardiac lesions that we can begin to target therapy to prevent them, or limit the extent of their effect. Since congenital heart disease is relatively common, the potential applications of the information from this project may affect numerous individuals in the future.