Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.
Heart Rhythm. 2012 Jan;9(1):145-50. doi: 10.1016/j.hrthm.2011.07.034. Epub 2011 Aug 2.
Sudden Cardiac Death (SCD) is a major and tragic complication of a number of cardiovascular diseases. While in the older populations, SCD is most frequently caused by underlying coronary artery disease and heart failure, in those aged under 40 years, the causes of SCD commonly include genetic disorders, such as inherited cardiomyopathies and primary arrhythmogenic diseases. As part of the evaluation of families in which SCD has occurred, the role of genetic testing has evolved as an important feature in both establishing an underlying diagnosis and in screening at-risk family relatives. Specifically, in cases where no definitive cause is identified at postmortem, i.e. Sudden Unexpected Death (SUD), the "molecular autopsy" has emerged as a key process in the investigation of the cause of death. The combination of clinical and genetic evaluation of families in which SUD has occurred provides a platform for early initiation of therapeutic and prevention strategies, with the ultimate goal to reduce sudden death among the young in our communities.
心源性猝死 (SCD) 是多种心血管疾病的主要且严重的并发症。虽然在老年人群中，SCD 最常由潜在的冠状动脉疾病和心力衰竭引起，但在 40 岁以下人群中，SCD 的常见病因包括遗传疾病，如遗传性心肌病和原发性心律失常性疾病。作为对 SCD 发生的家族进行评估的一部分，基因检测的作用已经发展成为确定潜在诊断和筛查高危家族亲属的重要特征。具体来说，在死后即无法确定明确病因的情况下，例如“意外猝死”（SUD），“分子尸检”已成为调查死因的关键过程。对 SUD 发生的家族进行临床和遗传评估的结合，为早期启动治疗和预防策略提供了一个平台，最终目标是减少我们社区中年轻人的猝死。
