Sudden cardiac death represents a significant diagnostic challenge for forensic pathologists, particularly in inherited arrhythmia syndromes or cardiomyopathies resulting from genetic defects. Molecular autopsies can reveal the underlying molecular etiology in such cases. In this study, we investigated a family with a history of sudden cardiac death to elucidate the molecular basis responsible for sudden cardiac death. The proband underwent a comprehensive forensic examination. Family members received thorough clinical evaluations, including electrocardiogram, Holter monitoring, echocardiography, and cardiac magnetic imaging. Whole exome sequencing and genetic analysis were performed on the deceased and her parents. In addition, Western blotting and patch-clamp recordings were employed to evaluate the expression and function of the mutant protein in vitro. Forensic examination diagnosed arrhythmogenic right ventricular cardiomyopathy (ARVC) as the cause of sudden death. Genetic analysis identified a novel missense mutation in SCN5A (p.V1323L), which was assessed as likely pathogenic by the ACMG guideline. Another family member carrying the mutation manifested long QT syndrome and mild cardiac fibrosis. The cellular electrophysiological study demonstrated that the mutation resulted in an enhanced late sodium current, suggesting it was a gain-of-function mutation. This study characterizes a novel SCN5A mutation that putatively causes long QT syndrome and may contribute to the development of ARVC. Our work expands the pathogenic spectrum of SCN5A variants and underscores the importance of molecular autopsy in sudden death cases, especially in those with suspected genetic disorders.

Objective To analyze the research progress and hot topics in hypertrophic cardiomyopathy from 2018 to 2022.Methods The publications in the field of hypertrophic cardiomyopathy from January 1,2018 to December 31,2022 were retrieved from Web of Science core collection database and included for a bibliometric analysis.Results A total of 6355 publications were included,with an average citation frequency of 7 times.The year 2021 witnessed the most publications (1406).The analysis with VOSviewer showed that the research on sudden death related to hypertrophic cardiomyopathy,especially the predictive value of late gadolinium-enhanced cardiac MRI in sudden death,was a hot topic.In addition,gene detection and the new drug mavacamten became hot research topics.The United States was the country with the largest number of publications and the highest citation frequency in this field.Chinese scholars produced the second largest number of publications,which,however,included few high-quality research results.Conclusions Risk stratification and prevention of sudden death is still an important and hot research content in the field of hypertrophic cardiomyopathy.Chinese scholars should carry out multi-center cooperation in the future to improve the research results.
目的 分析2018至2022年肥厚型心肌病的研究进展和热点话题。方法 检索Web of Science核心合集数据库,纳入2018年1月1日至2022年12月31日发表的肥厚型心肌病相关文献,进行文献计量学分析。结果 共纳入6355篇文献,平均被引频次7次,2021年出版文献最多,为1406篇。VOSviewer软件分析显示,肥厚型心肌病相关的猝死研究,特别是磁共振心肌延迟强化对猝死的预测价值是目前的热点话题,此外基因检测和新药mavacamten研究也成为一大热点。美国是目前肥厚型心肌病发文量和文献被引频次最多的国家,中国学者发文量位居第2位,但高质量的研究成果较少。结论 猝死危险分层和预防仍是目前肥厚型心肌病领域重要和热点研究内容。国内学者应开展多中心合作,以提高研究成果的水平。.

OBJECTIVE: Premature ventricular contractions (PVC) and non-sustained ventricular tachycardia (NSVT) are commonly observed in light chain cardiac amyloidosis (AL-CA), but their association with prognosis is still unclear. We aimed to evaluate the prognostic value of PVCs and NSVT in patients with moderate-to-advanced AL-CA.
RESULTS: We retrospectively included patients with AL-CA at modified 2004 Mayo stages II-IIIb between February 2014 and December 2020. Twenty-four-hour Holter recordings were assessed on admission. The outcomes included (i) new onset of adverse ventricular arrhythmia (VA) or sudden cardiac death (SCD) and (ii) cardiac death during follow-up. Of the 143 patients studied (60.41 ± 11.06 years, male 64.34%), 132 (92.31%) had presence of PVC, and 50 (34.97%) had NSVT on Holter. Twelve (8.4%) patients died in hospital and 131 patients were followed up (median 24.4 months), among whom 71 patients had cardiac death, and 15 underwent adverse VA/SCD. NSVT [hazard ratio (HR): 13.57, 95% confidence interval (CI): 3.06-60.18, P < 0.001], log-transformed PVC counts (HR: 1.46, 95%CI: 1.15-1.86, P = 0.002) and PVC burden (HR: 1.43 95%CI:1.14-1.80, P = 0.002) were predictive of new onset of adverse VA/SCD. The highest tertile of PVC counts (HR: 2.33, 95%CI: 1.27-4.28, P = 0.006) and PVC burden (HR: 2.58, 95%CI: 1.42-4.69, P = 0.002), rather than NSVT (HR: 1.16, 95%CI: 0.67-1.98, P = 0.603), was associated with cardiac death. Higher PVC counts/burden provided incremental value on modified 2004 Mayo stage in predicting cardiac death, with C index increasing from 0.681 to 0.712 and 0.717, respectively (P values <0.05).
CONCLUSIONS: PVC count, burden, and NSVT significantly correlated with adverse VA/SCD during follow-up in patients with AL-CA. Higher PVC counts/burdens added incremental value for predicting cardiac death.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rare autosomal dominant genetic disorder that leads to severe arrhythmia and sudden cardiac death. Although previous studies in clinical, pathological and genetics of ARVC established consensus diagnostic criteria and expanded the spectrum of pathogenic genes, there is still a proportion of patients with unclear causative factors. Here, whole-exome sequencing was employed to investigate the genetic etiology of a 15-year-old sudden cardiac death female caused by ARVC. A novel variant of MYOF (NM_013451.3: c.4723G > C: p.D1575H) was identified, which is a member of the Ferlin family of proteins is associated with cardiomyopathy. And the bioinformatics analysis predicted the pathogenicity of this variant. We report the first variant of MYOF in ARVC, which imply a vital role of MYOF in cardiomyopathy.

OBJECTIVE: To diagnose coronary artery stenosis by using the postmortem computed tomography angiography (PMCTA), and to explore the diagnostic value of PMCTA in sudden cardiac death.
METHODS: Six death cases were selected, and the contrast medium iohexol was injected under high pressure through femoral artery approach with 5F pigtail catheter to obtain coronary image data and then the data was analyzed. The results of targeted coronary imaging and coronary artery calcium score (CaS) were compared with the results of conventional autopsy and histopathological examination.
RESULTS: The autopsy and histopathological examination of cases with coronary artery stenosis obtained similar results in targeted coronary angiography, with a diagnostic concordance rate of 83.3%. Targeted coronary angiography could effectively show coronary artery diseases, and the CaS was consistent with the results of conventional autopsy and histopathological examination.
CONCLUSIONS: Targeted coronary angiography can be used as an effective auxiliary method for conventional autopsy in cases of sudden cardiac death.
目的: 应用靶向心脏冠状动脉死后计算机体层成像血管造影（postmortem computed tomography angiography，PMCTA）方法对冠状动脉狭窄进行诊断，探索其对冠心病猝死的诊断价值。方法: 选用鉴定实践中的6例死亡案例，用5F猪尾型导管经股动脉入路高压注射对比剂碘海醇，获取冠状动脉影像学数据并处理分析，将冠状动脉靶向显影及冠状动脉钙化积分与常规尸体解剖、组织病理学检验结果进行比较。结果: 尸体解剖和组织病理学检验存在冠状动脉狭窄的病例在靶向心脏冠状动脉造影中均得到相似的结果，诊断吻合率达83.3%。靶向心脏冠状动脉造影方法可以有效显示心脏冠状动脉病变，冠状动脉钙化积分与常规尸体解剖、组织病理学检验结果具有一致性。结论: 靶向心脏冠状动脉造影技术在冠心病猝死案件中可以作为常规尸体检验的有效辅助手段。.

Acute aortic dissection (AAD) is the most common lethal disease affecting the aorta. Neurological symptoms have been linked to AAD in some patients. Although aortic dissection patients have previously been shown to present with neurological symptoms, AAD with forgetfulness as the first manifestation is extremely rare. To increase the awareness of AAD among clinicians, we report the first case of a male Chinese patient with AD presenting with forgetfulness as the initial symptom. A 53-year-old man presented to the emergency department with forgetfulness. Based on the concept that \"time is brain,\" stroke was initially considered in the differential diagnosis. The patient underwent emergency coronary angiography and was diagnosed with acute myocardial infarction. After contrast-enhanced computed tomography angiography, the patient was finally diagnosed with AAD. Because valuable time was lost in diagnosis rather than treatment, optimal timing for surgery missed. The patient died following an aortic dissection rupture while waiting for emergency surgery. When forgetfulness cannot be completely accounted for in patients presenting with acute myocardial infarction, AAD should be considered. We believe that this case report contains a worthwhile clinical lesson for clinicians.

Aleutian mink disease (AMD) is one of the most serious diseases in minks worldwide, it brings tremendous financial losses in mink farming. AMD virus (AMDV) has unusually high genetic diversity, its genomic structure remains unclear. In 2014, sudden death of breeding minks was occurred in northeast China. After clinical signs evaluation and virus isolation, AMDV was identified in all sudden death minks, we investigated the complete genomic sequence of AMDV-LM isolated from the sudden death case. The full-genome sequence of AMDV-LM was 7 nucleotides (nts) or 8 nts longer than isolates AMDV-BJ and AMDV-G. AMDV-LM contained two unique nucleotide changes in VP2 (G79T, T710C), which led to two amino acid changes G27W and L237S. For NS1, some unique point mutations, such as A374C, A428C, A463C, and T476A were found and resulted in four unique amino acid mutations at N24V, H125P, V143P, K155Q, and V159N, respectively. The predicted secondary structure of the 5\' terminal of AMDV-LM formed a large bubble formation near the 5\' end, which affected the stability of the U-shaped hairpin. Phylogenetic analysis demonstrated that AMDV-LM was closely related to Chinese isolates and confirmed that AMDV strains circulating in China had different origins of ancestors. This study was first to investigate the association of sudden death of adult breeding minks with AMDV infection. Our findings provide useful suggestions for evaluation of the pathogenic potential of AMDV, additional details on AMDV genome characterization were also presented. Future work should focus on the importance of AMDV-LM strain in mink infection.

BACKGROUND: Edaravone is a widely used treatment for patients with cerebral infarction and, in most cases, edaravone-induced side effects are mild. However, edaravone-related adverse reactions have been receiving increasing attention.
METHODS: We treated three patients with acute cerebral infarction who died following treatment with edaravone. Edaravone is a widely used treatment for patients with cerebral infarction and, in most cases, edaravone-induced side effects are mild. However, edaravone-related adverse reactions have been receiving increasing attention.
CONCLUSIONS: Our cases highlight the importance of educating clinicians regarding the new edaravone-induced clinical syndromes of cerebral infarction as potentially fatal adverse drug reactions. Considering that no laboratory or confirmatory test exists to diagnose edaravone-induced death from cerebral infarction, clinicians\' knowledge is the key element in recognizing this phenomenon.

The aim of this review is to examine the links among the different factors that determine harmful or even deadly events in professional and semiprofessional intensive Esports players. Cases of serious injuries or even death in young (<35 years old) male professional Esports players are reported every year. Fatalities and injuries in professional Esports players (PEGS) have only affected male players, and these events have mostly been concentrated in Asia. Studies in the literature have reported several causes and mechanisms of injuries. Links between injuries and previous comorbidities have emerged from the extant literature; obesity and/or metabolic disorders, seizures (associated with overstimulation of the eyes), heart malfunctions, high basal and abrupt increases in systolic blood pressure (SBP), prolonged stress, and poor posture have been associated with injuries. Several clinical signs have been identified and the question emerges whether or not self-regulation by Esports associations or public health authorities is necessary.

Objective: To investigate the epidemiological characteristics of sudden death on job among workers in the large oil field, and to provide scientific basis for dealing with such incidents. Methods: In April 2021, the medical records of employees who died in a large oilfield from 2014 to 2020, and the occupational health examination data in the first year of life were collected, and 85 employees who died suddenly on duty were included in the study. According to whether the employees are exposed to the occupational disease hazards, they are divided into the injured type of work (66 persons) and the non injured type of work (19 persons) . The characteristics of the clinical data of the sudden death employees are analyzed retrospectively. The gender, age, length of service, type of work, distribution of causes of sudden death of the cases are analyzed. The detection of abnormalities in various occupational health examination indicators is analyzed. The chi square test is used to analyze the distribution of the types of work, length of service and abnormal physical examination indicators. Results: Among the 85 employees who died suddenly on duty, the ratio of men and women was 16∶1. The proportion of sudden death among employees aged 40 to 50 years was the highest (54.12%, 46/85) , which was mainly the first-line workers in the affected departments (43.53%, 37/85) and those with 20-30 years of service (57.64%, 49/85) . The main cause of sudden death was cardiogenic sudden death (78.82%, 67/85) . There were statistically significant differences in abnormal rates of blood pressure and blood glucose among workers of different types of work (χ(2)=7.24, 24.22, P<0.05) , and there were statistically significant differences in abnormal rates of blood lipid and blood glucose among workers of different ages of service (χ(2)=12.37, 31.44, P<0.05) Conclusion: Higher risks of sudden death on job are male, older than 40 years old, front-line workers in disaster receiving departments, worked for more than 30 years, and have abnormal cardiovascular indicators. Workers with these high risks are the major target population for the prevention and treatment of sudden death on the job. It\'s necessary to supervise enterprises to implement protective measures against risk factors, and to strengthen health education and reduce the incidence of cardiovascular and cerebrovascular diseases, in order to reduce the occurrence rate of sudden death in oilfield workers.
目的： 了解某大型油田职工发生在岗猝死的流行病学特征，为此类事件的应对措施提供科学依据。 方法： 于2021年4月，收集某大型油田2014至2020年死亡职工的病历资料和生前1年内的职业健康检查资料，共纳入在岗猝死的85名职工为研究对象。按是否接触职业病危害因素，将职工分为接害工种（66人）与非接害工种（19人），回顾性分析猝死职工临床资料特点，分析病例的性别、年龄、工龄、工种、猝死原因分布情况，各项职业健康检查指标异常检出情况，采用χ(2)检验分析工种、工龄和体检异常指标的分布情况。 结果： 在岗猝死85名职工中，男女比例为16∶1，40~50岁职工猝死占比最高（54.12%，46/85），接害部门一线工种占43.53%（37/85）、工龄为20~30年职工占57.64%（49/85）。猝死原因以心源性猝死为主（78.82%，67/85）。不同工种职工的血压、血糖异常率差异均有统计学意义（χ(2)=7.24、24.22，P<0.05），不同工龄职工的血脂、血糖异常率差异均有统计学意义（χ(2)=12.37、31.435, P<0.05）。 结论： 油田企业应落实有害因素防护措施，加强健康宣教，降低心脑血管疾病的发生，从而降低油田职工在岗猝死事件的发生率。.