Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia; Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Heart Lung Circ. 2020 Apr;29(4):498-504. doi: 10.1016/j.hlc.2019.11.007. Epub 2019 Dec 12.
Sudden cardiac death (SCD) of a young person is a devastating and tragic ultimate outcome of a collection of cardiac disorders. The death often occurs in people who were thought to be well, by definition is sudden, can occur without prior warning symptoms, and is often the first presentation of an underlying genetic heart disease. Many of the genetic heart diseases are caused by single genetic variants that have a one-in-two chance of being inherited by each first-degree relative. Therefore, the surviving family not only have to deal with the sudden loss of a young family member but are also left with the compounding uncertainty as to whether SCD could strike again in another family member. In recent years, our ability to identify the causes of SCD in the young has improved. Finding a precise genetic cause of death allows cascade genetic testing of family members to identify those who are at risk and facilitate early intervention to prevent another sudden death. Thus, investigations to define the precise cause of SCD of a young person not only bring a level of closure for the family but are also of vital clinical relevance.
年轻人的心脏性猝死 (SCD) 是一系列心脏疾病的灾难性和悲惨的最终结果。这种死亡通常发生在那些被认为身体状况良好的人身上，根据定义是突然发生的，可能没有事先警告症状，并且通常是潜在遗传性心脏病的首次表现。许多遗传性心脏病是由单一基因突变引起的，每个一级亲属有二分之一的机会遗传这些突变。因此，幸存的家庭不仅要应对年轻家庭成员的突然离世，还要面对另一名家庭成员是否会再次发生 SCD 的不确定因素。近年来，我们识别年轻人 SCD 病因的能力有所提高。确定死亡的精确遗传原因可以对家庭成员进行级联基因检测，以识别出有风险的人群，并促进早期干预以预防另一次猝死。因此，调查年轻人 SCD 的精确病因不仅为家庭带来了一定程度的了结，而且具有至关重要的临床意义。
