Investigating a genetic cause of left ventricular outflow tract obstruction.

先天性心脏病是最常见的先天性畸形之一，与死亡率和发病率密切相关。尤其是心脏左侧的异常是常见的。这些缺陷的原因尚不清楚，但已确定有很强的遗传因素。这项研究的目的是识别导致左侧心脏损害的基因并研究其功能。三名患者已被确认患有左侧心脏异常，以及导致某一基因区域中断的异常染色体配置。这为哪些基因可能导致心脏问题提供了线索。该项目将通过对人类、小鼠和鱼类胚胎的研究来评估可能的基因。当一个特定的基因被认为可能是心脏损害的原因时，将研究它在其他患者样本中的错误。只有知道哪些基因会导致这种心脏损害，我们才能开始有针对性地治疗以预防它们，或限制它们的影响程度。由于先天性心脏病相对常见，来自该项目的信息的潜在应用可能会在未来影响到许多人。

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.