长QT综合征引起的心脏性猝死

Jiayi Wu, Wei-jie Tang, Kai Zhang, Kai Li, Jianwen Wang, Youjia Yu, Feng Chen
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摘要

用结构正常的心脏鉴定心脏性猝死(SCD)仍然是法医病理学中的一个重要挑战。长QT综合征(LQTS)是一种遗传性或获得性通道病,其特征是QT间期延长,可能导致年轻人SCD。在这种情况下,LQTS患者的心脏在解剖学或组织学上没有发现特定的病理变化。因此,死后LQTS的诊断主要基于临床表现和基因检测。在这里,我们报道了一名26岁的妇女,她被发现死于家中,有不明原因的晕厥史。她的临床记录和在她去世前3个月获得的心电图显示QTc间期为539ms,这意味着LQTS的诊断。尽管尸检和病理检查结果缺乏特异性,但我们注意到心肌细胞中脂褐素积累增加,这可能与LQTS有关。在排除潜在疾病和损伤后,我们根据心电图、临床病史和法医尸检结果,将尸检诊断为LQTS。总之,我们提供了一例LQTS引起的SCD病例的临床和病理特征,这可能丰富对非结构性心脏病法医尸检SCD诊断的理解。
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Sudden cardiac death due to long QT syndrome
Identification of sudden cardiac death (SCD) with a structurally normal heart remains an important challenge in forensic pathology. Long QT syndrome (LQTS) is known as an inherited or acquired channelopathy, which is characterized with prolonged QT interval, and is likely to cause SCD in young adults. In this circumstance, no specific pathological change in the heart can be found anatomically or histologically in the LQTS victims. Thus, postmortem LQTS diagnosis is mainly based on clinical manifestations and genetic testing. Here, we reported a 26-year-old woman who was found dead at home with a history of unexplained syncope. Her clinical records and an electrocardiograph (ECG) obtained 3 months before her death showed a QTc interval of 539 ms which implicates the diagnosis of LQTS. Although the autopsy and pathological examination findings lacked specificity, we noticed enhanced lipofuscin accumulation in cardiomyocytes, which might be related to LQTS. After excluding potential diseases and injuries, we made the postmortem diagnosis as LQTS according to ECG, clinical history, and forensic postmortem findings. In conclusion, we provided clinical and pathological features of an SCD case due to LQTS, which might enrich the understanding of forensic postmortem SCD diagnosis with nonstructural cardiac diseases.
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来源期刊
CiteScore
0.40
自引率
0.00%
发文量
6
审稿时长
39 weeks
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