PDF(Pubmed)
Abstract：
Sudden cardiac death (SCD) is defined as unexpected death due to a cardiac cause that occurs rapidly. Despite the identification of prevention strategies, SCD remains a serious public health problem worldwide, accounting for 15-20% of all deaths, and is therefore a challenge for modern medicine, especially when it affects young people. Sudden cardiac death in young people affects the population aged ≤ 35 years, including athletes and non-athletes, and it is due to various hereditary and non-hereditary causes. After an autopsy, if the cause remains unknown, it is called sudden unexplained death, often attributable to genetic causes. In these cases, molecular autopsy-post-mortem genetic testing-is essential to facilitate diagnostic and therapeutic pathways and/or the monitoring of family members of the cases. This review aims to elaborate on cardiac disorders marked by genetic mutations, necessitating the post-mortem genetic investigation of the deceased for an accurate diagnosis in order to facilitate informed genetic counseling and to implement preventive strategies for family members of the cases.
摘要：
心源性猝死（SCD）被定义为由于快速发生的心脏原因而导致的意外死亡。尽管确定了预防策略，SCD仍然是全球范围内严重的公共卫生问题。占所有死亡人数的15-20%,因此对现代医学来说是一个挑战，尤其是当它影响到年轻人的时候。年轻人心源性猝死影响年龄≤35岁的人群，包括运动员和非运动员，这是由于各种遗传和非遗传原因。验尸后,如果原因不明,它被称为不明原因的突然死亡，通常归因于遗传原因。在这些情况下,分子尸检-验尸基因检测-对于促进诊断和治疗途径和/或监测病例的家庭成员至关重要。这篇综述旨在详细阐述以基因突变为标志的心脏疾病，有必要对死者进行验尸基因调查，以进行准确的诊断，以促进知情的遗传咨询并为案件的家庭成员实施预防策略。
