Abstract：
Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking. The 5-year result (2017-2021) of molecular autopsy services provided for victims of SCDY (age 1-40 years) was reviewed. The outcome of family cascade genetic screening and clinical evaluation was reviewed. A literature review of case series reporting results of molecular autopsy on SCDY in 2016-2023 was conducted. Among the 41 decedents, 11 were found to carry 13 sudden cardiac death (SCD)-causative genetic variants. Likely pathogenic (LP) variants were identified in the DSP, TPM1, TTN, and SCN5A genes. Cascade genetic testing identified four family members with LP variants. One family member with familial TPM1 variant was found to have hypertrophic cardiomyopathy upon clinical evaluation. This study provided insight into the genetic profile of molecular autopsy in a Chinese cohort of SCDY. The detection of important SCD-causative variants through molecular autopsy has facilitated family cascade screening by targeted genetic testing and clinical evaluation of at-risk family members. A literature review of the current landscape of molecular autopsy in the investigation of SCDY was conducted.
摘要：
遗传性心血管疾病是年轻人心脏猝死（SCDY）的重要原因，使他们的调查使用分子尸检和预防公共卫生的优先事项。然而,缺乏中国人群的分子尸检数据。回顾了为SCDY受害者（1-40岁）提供的分子尸检服务的5年结果（2017-2021年）。回顾了家族级联遗传筛查和临床评估的结果。对2016-2023年SCDY分子尸检病例系列报告结果进行文献综述。在41名死者中，11人被发现携带13种心源性猝死（SCD）遗传变异。在DSP中鉴定了可能的致病性（LP）变体，TPM1,TTN,和SCN5A基因。级联基因测试确定了四个具有LP变体的家族成员。在临床评估中发现一个具有家族性TPM1变体的家族成员患有肥厚型心肌病。这项研究提供了对中国SCDY队列中分子尸检的遗传概况的见解。通过分子尸检检测重要的SCD致病变异，通过有针对性的基因检测和有风险的家庭成员的临床评估，促进了家庭级联筛选。对SCDY调查中分子尸检的现状进行了文献综述。
