Abstract：
Molecular autopsy has recently been gaining attention as a means of postmortem diagnosis; however, it is usually performed using the victim\'s blood sample at the time of death. Here, we report the first case of a deceased infant with Brugada syndrome whose diagnosis was made with banked cord blood. A seemingly healthy 1-year-old male infant collapsed while having a fever; this collapse was witnessed by his mother. Despite cardiopulmonary resuscitation, he died of ventricular fibrillation. No abnormalities of cardiac structure were identified on autopsy. Genomic samples were not stored at the time because of a lack of suspicion for familial arrhythmia. Five years later, his sister showed Brugada electrocardiogram pattern while febrile from Kawasaki disease. Their father showed a spontaneous type 1 Brugada electrocardiogram pattern. A heterozygous SCN5A p.R893C variant was found by genetic testing in the proband\'s father and sister. Furthermore, the proband\'s genetic testing was performed using his banked cord blood, which identified the same variant. Family history of Brugada syndrome with an SCN5A-R893C variant and clinical evidence led to a postmortem diagnosis of Brugada syndrome in the proband. Identification of this variant in this case later contributed to verifying SCN5A-R893C as a pathogenic variant through data accumulation. Banked cord blood may prove useful for conducting molecular autopsies in previously undiagnosed cases of sudden death in which genomic samples were not stored.
摘要：
分子尸检作为验尸诊断的一种手段，最近受到了人们的关注；然而，通常在死亡时使用受害者的血液样本进行。这里,我们报告了首例Brugada综合征死亡婴儿,其诊断为脐带血.一名看似健康的1岁男婴在发烧时晕倒；他的母亲目睹了这种崩溃。尽管进行了心肺复苏,他死于心室纤颤.尸检未发现心脏结构异常。由于缺乏对家族性心律失常的怀疑，当时未存储基因组样本。五年后,他的妹妹在川崎病发热时显示Brugada心电图模式。他们的父亲表现出自发的1型Brugada心电图模式。通过基因检测，在先证者的父亲和姐妹中发现了一个杂合的SCN5Ap.R893C变体。此外，先证者的基因检测是用他储存的脐带血进行的，鉴定出相同的变体。具有SCN5A-R893C变体的Brugada综合征的家族史和临床证据导致先证者对Brugada综合征的死后诊断。在这种情况下，对该变体的鉴定后来有助于通过数据积累验证SCN5A-R893C为致病性变体。在以前未诊断的猝死病例中，脐带血可能可用于进行分子尸检，其中基因组样本未存储。
