Genetic Basis of Sudden Cardiac Death in the Young

心源性猝死是多种心血管疾病的毁灭性并发症。在年轻人中，心脏性猝死可由心脏结构异常（如心肌病）和心脏电异常（如家族性长QT综合征）引起。在大多数年轻的心脏猝死中，这些心血管疾病是由潜在的基因异常引起的，这些基因异常使个体面临更高的猝死风险。该项目的目的是了解年轻人心脏性猝死的遗传基础。特别是，该研究将确定和鉴定导致心脏性猝死的特定基因，以及关于单个基因缺陷如何导致这种破坏性临床结果的潜在机制。了解导致猝死的各种心血管疾病，临床筛查高危人群，加上启动适当的治疗和预防策略，如植入心脏复律器，将最有可能减少我们社区年轻人心脏猝死的发生率。阐明导致许多这些心脏疾病的潜在遗传缺陷将大大提高诊断准确性，对于遗传筛查风险个体将是非常宝贵的，并且通过在生命早期进行诊断，将创造更大的治疗窗口，以允许开始治疗以预防疾病并发症，包括猝死。

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.