Sudden Cardiac Deaths in Adults with Congenital Heart Disease with Structural Abnormalities: A Retrospective Review of Cases in the Cook County Medical Examiner's Office

Sudden cardiac death is a significant cause of mortality in adults with congenital heart disease (CHD). The Cook County Medical Examiner's Office database was queried for cases of CHD as a cause of death in the period between July 2008 and April 2019. Twenty-two cases were identified, including 11 decedents with simple defects and 10 decedents with complex defects. All of the subjects were in apparent good health at the time of death. In the absence of other obvious causes of death, simple defects were considered cases of sudden cardiac death. Significant cardiac morphological changes were common in complex defects. While 16 cases had known, diagnosed/treated CHD, 5 cases had no diagnosis prior to autopsy. In these cases, the ability to recognize CHD (sometimes subtle) helped in determining the causes of death. Therefore, forensic pathologists must be able to properly recognize various forms of CHD and request consultations, when needed.     

Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis

Familial hypercholesterolemia (FH) is a genetic disorder that may lead to premature coronary heart disease (CHD) and sudden cardiac death (SCD). Mutations in the LDLR or APOB genes cause FH. We have screened the LDLR and the ligand-binding region of APOB genes in 52 cases of SCD. Deceased patients were younger than 40 years of age and were suspected of having FH. The LDLR and APOB genes were examined via PCR, high-resolution melting, and DNA sequencing. Therein, it was observed that 7.7% of the screened patients exhibited a rare sequence variant in the LDLR gene, with 5.7% suspected of being pathogenic mutations. Lipid profiles and genetic testing for FH could be considered when autopsy reveals significant atherosclerosis of the coronary arteries in young adults. First-degree family members are advised to seek medical advice and testing to determine their own risks of atherosclerosis to prevent premature CHD and SCD.     

36例脑血管畸形猝死案例及法医病理学分析

目的探讨脑血管畸形猝死的法医病理学特点和检查方法。方法对1997年至2006年10月四川华西鉴定中心所做36例脑血管畸形猝死病例进行分析。结果脑血管畸形猝死以10~49岁男性为主,有25例(69.44%)。18例(50%)发病前有明显诱因。18例(50%)在发病后1h内迅速死亡。脑血管畸形猝死的病理类型以脑动静脉畸形最为常见,有33例(91.67%)。24例(66.67%)发生于脑底部、桥脑和小脑。破裂出血是脑血管畸形猝死的直接死因,出血类型以蛛网膜下腔出血最为常见,有22例(61.11%)。脑血管畸形部位和形态复杂多变,常规检查方法不能满足鉴定的需要。结论脑血管畸形猝死的鉴定百分之百准确比较困难,熟悉其法医病理学特点,掌握多种检查方法,才能做出客观、全面、准确的鉴定结论。     

Sudden Death Caused by Anomalous Origin of the Coronary Artery During Exercise

Anomalous origin of the coronary artery (AOCA) is a rare, but important cause of sudden cardiac death among young athletes. Nine autopsy cases (8 male, 1 female; mean age, 17.9 years; age range, 11–31 years) of sudden death during or just after exercise caused by AOCA were reviewed. The exercises performed at the time of death were running (4 cases), soccer (2 cases), and baseball, swimming and kendo (Japanese swordsmanship) (1 case each). In 6 cases, the left coronary artery arose from the right sinus of Valsalva, and in 3, the right coronary artery from the left sinus. The coronary arteries passed between the pulmonary artery and the aorta with an acute angle takeoff from the orifice. Three cases had cardiovascular manifestations prior to death. In cases with cardiovascular manifestations, novel imaging methods should be considered to prevent sudden death.     

A retrospective analysis of cardiovascular deaths: A 5-year autopsy study of 1045 cases in Antalya,Turkey

This study aims to identify the macroscopic and microscopic changes that occur in the heart in different causes of cardiovascular death and sudden cardiac death in autopsy cases and evaluate the difficulties that a forensic practitioner may encounter during autopsies. All forensic autopsy cases in the Morgue Department of the Council of Forensic Medicine, Antalya Group Administration between January 1, 2015, and December 31, 2019, were examined, retrospectively. The cases were chosen according to inclusion and exclusion criteria, and their autopsy reports were examined in detail. It was determined that 1045 cases met the study criteria, 735 of which were also met the sudden cardiac death criteria. The top three common causes of death were ischemic heart disease (n = 719, 68.8%), left ventricular hypertrophy (n = 105, 10%), and aortic dissection (n = 58, 5.5%). The frequency of myocardial interstitial fibrosis was significantly higher in deaths due to left ventricular hypertrophy than in deaths due to ischemic heart disease and other causes (χ²(2) = 33.365, p < 0.001). Despite detailed autopsy and histopathological examinations, some heart diseases that cause sudden death may still not be detected.     

Brain arteriovenous malformation and its implication in forensic pathology

Despite the fact that brain arteriovenous malformations (BAVMs) are a possible cause of sudden and unexplained death, very few papers have discussed their importance in the forensic context. BAVMs consist of tangled masses of tortuous arteries and veins devoid of intervening capillaries that frequently extend from brain parenchyma into the subarachnoid space. Apart from BAVMs, three major groups of vascular malformations of the brain are known: cavernous hemangioma, venous angioma, and capillary telangiectasia. BAVMs and cavernous hemangioma often cause hemorrhages, while venous angioma and capillary telangiectasia are typically asymptomatic. Presented here is the case of a 14-year-old girl who died from a ruptured BAVM. The present case is a reminder that the forensic pathologist should be able to recognize BAVMs and to differentiate it from other types of vascular malformations. Although rare, it is a cause of sudden death not to be overlooked, especially in children.     

Left Ventricular Aneurysm: Sudden Unexpected Deaths in a 29‐Year‐Old Man

Left ventricular aneurysm (LVA) is an abnormal dilated heart structure, either congenital or acquired. LVA is a rare cardiac condition with no symptoms in most cases, thus occasionally diagnosed during investigations of other diseases. Its association with certain cardiac complications and sudden cardiac deaths has been reported. However, its role as a cause of sudden unexpected death is rare. The author reported a sudden cardiac death in a 29‐year‐old man with LVA. Without a significant coronary artery disease and known etiologies of LVA, such an abnormal heart structure in the present case was considered congenital LVA. As no other possible mechanisms of death could be identified other than LVA with its associated pathologic lesions, mural thrombi, and dilated cardiomegaly, his death was attributable to fatal cardiac arrhythmia (most commonly ventricular tachycardia) secondary to LVA.     

178例心源性猝死法医组织病理学诊断分析

目的探讨心源性猝死(SCD)的病理特点与鉴别要点。方法对四川华西法医学鉴定中心2000—2005年尸检出的178例SCD死亡案例进行回顾性分析,主要对其病因、年龄、诱因及病理改变进行分析。结果本组资料显示冠心病、心传导系统病变、心肌炎、心肌病等在SCD中占有较大比例。冠心病猝死是中老年人SCD的最主要原因,青壮年人SCD的病因以非冠心病为主。如传导系统病变、心肌炎、心肌病。在儿童的SCD中先天性心脏病、传导系统病变及心肌炎占主导地位。结论不同的病因,其病理特点不同,其病理变化是法医学鉴定的主要依据。     

Aortic Dissection and Sudden Unexpected Deaths: A Retrospective Study of 31 Forensic Autopsy Cases

Acute aortic dissection (AAD) is the most common cause of sudden unexpected death related to aortic diseases. A retrospective study of 31 sudden unexpected deaths caused by AAD was conducted at Xi'an Jiaotong University Forensic Center from 2001 to 2012. We summarized the forensic characteristics of AAD and assessed the clinically diagnostic accuracy of AAD. The characteristics of sudden unexpected death due to AAD were male predominant (male: female = 6.7:1), relatively young with the mean age of 44, and predominance of type A dissection (77.4%). Cardiac tamponade was the most frequent cause of sudden death (87.1%). Of the 31 cases, 26 (83.9%) patients were not recognized clinically and were misdiagnosed with acute myocardial infarction, coronary artery disease, cholecystitis, acute gastroenteritis, renal/urinary lithiasis, or acute pancreatitis. In summary, AAD can be difficult to recognize, diagnosis is therefore sometimes delayed or missed. The medicolegal death investigation can help physicians have a better understanding of AAD.     

Sudden Unexplained Nocturnal Death Syndrome: Epidemiological and Morphological Characteristics in Thai Autopsy Cases

With limited knowledge on epidemiological and morphological characteristics of sudden unexplained nocturnal death syndrome (SUNDS), this study was aimed to identify such data in Thai SUNDS autopsy cases. All the cases were men and nondrug abusers aged 20–49 years old. Most cases were originated in the Northeastern region of Thailand. Half of them were found dead from midnight to 6 a.m., with a peak time at 2 a.m. The death rate was relatively higher in May and June. Most SUNDS cases were blue‐collar workers (93.2%) and nonsmokers (60%), with a normal BMI (72.1%). Approximately one‐fifth of the cases had detectable blood alcohol concentrations. Symptoms before death were respiratory difficulty, seizures, and urinary incontinence. Their mean heart weight was 329.8 ± 35.1 g. Their lungs (88.6%) had some degree of congestion. Acute pancreatitis was not found in these SUNDS cases, and approximately half (40.9%) of the cases had their gastric content <100 mL.     

心脏性猝死心肌组织N-Cadherin、Bax表达变化及评价

目的观察心脏性猝死者(SCD)心肌组织的神经性钙粘附蛋白(N-Cadherin)和Bax的表达变化,探讨其法医学意义。方法分别选取心脏性猝死和排除心脏疾病死因的尸检案例心肌组织标本各33例、29为SCD组和对照组。光镜下观察心肌组织病理学改变,检测N-Cadherin和Bax在心肌组织中的表达变化,并进行统计学分析。结果 N-Cadherin在SCD组心肌中表达呈弱阳性,排列紊乱,显著低于正常心肌,正常心肌组织中N-Cadherin呈强阳性表达,细胞间界限明显,排列整齐。Bax在SCD组表达呈阳性,显著高于正常心肌。结论 N-Cadherin和Bax的变化表达对心脏性猝死鉴定有意义。     

Sudden infant death with anomalous origin of the left coronary artery.

Autopsy of a 3-month-old girl, an apparent case of sudden infant death syndrome, revealed anomalous origin of the left coronary artery from the right aortic sinus. Acute angulation of the left coronary artery along the aortic root, as well as a focal intramyocardial course within the ventricular septum, may have contributed to episodic luminal narrowing. Anomalous coronary origins of similar type have been associated with sudden death in children, teenagers, and young adults, but have not necessarily been associated with sudden death in older adults. Somewhat similar malformations have been reported in sudden infant death; two cases involved the left coronary artery and six involved the right.     

Use of Cardiac Injury Markers in the Postmortem Diagnosis of Sudden Cardiac Death

In the daily practice of forensic pathology, sudden cardiac death (SCD) is a diagnostic challenge. Our aim was to determine the usefulness of blood biomarkers [creatine kinase CK‐MB, myoglobin, troponins I and T (cTn‐I and T), and lactate dehydrogenase] measured by immunoassay technique, in the postmortem diagnosis of SCD. Two groups were compared, 20 corpses with SCD and 8 controls. Statistical significance was determined by variance analysis procedures, with a post hoc Tukey multiple range test for comparison of means (p < 0.05). SCD cases showed significantly higher levels (p < 0.05) of cTn‐T and cTn‐I compared to the control group. Although only cases within the first 8 h of postmortem interval were included, and the control group consisted mainly of violent death cases, our results suggest that blood troponin levels may be useful to support a diagnosis of SCD.     

Sudden Death Due to Primary Intraventricular Hemorrhage: Report of Two Cases

Primary intraventricular hemorrhage (PIVH) is a rare type of stroke defined as bleeding within the ventricles of the brain without any associated parenchymal hemorrhage. Here, we reported two cases of sudden death due to PIVH. One of the patients was found dead under a highway bridge without witnesses, and the other patient was hospitalized with hemorrhage in the ventricular system, as revealed by a head computed tomography scan. In these two patients, autopsy and macroscopic examination only showed hemorrhages in the ventricular system without any traumatic brain injury or other intraparenchymal hemorrhage. The sources of bleeding for both patients were ultimately confirmed as ruptured brain arteriovenous malformations located in the subventricular zone. We reported these cases to broaden our understanding of sudden death associated with PIVH, especially when caused by brain arteriovenous malformation. We also summarized the essential details of the diagnoses and available technical methods for PIVH cases.     

118例心源性猝死分析

心源性猝死(sudden cardiac death,SCD)在成人猝死的死因中占首位,本文对1998-2005年陕西地区发生的118例SCD案例进行统计分析,结果显示男性是女性的5.9倍,其中冠心病占55.1%,心肌炎占17.8%,心肌病占9.3%,先天性心脏病、瓣膜病、主动脉夹层瘤破裂各占2.5%,其他疾病占4.5%。说明SCD多发于男性,冠心病仍是SCD的主要基础疾病,心肌炎是青少年SCD的主要原因,心肌病是青壮年SCD的危险因素,无结构异常的心脏病也同样严重威胁生命健康。     

病毒性心肌炎猝死心肌MCP-1表达及其法医学意义

目的探讨单核细胞趋化蛋白1（monocyte chemoattractant protein-1,MCP-1）在病毒性心肌炎（viral myocarditis,VMC）所致猝死者心肌组织中的表达及其意义。方法运用改良的免疫组织化学方法,观察VMC猝死组和对照组心肌组织中MCP-1的表达情况,应用统计学处理,比较两组间的表达差异。结果20例VMC猝死组中有17例MCP-1染色阳性;而20例非VMC猝死对照组仅4例局部散在MCP-1弱阳性表达,其余均阴性。VMC组MCP-1阳性表达率明显高于对照组（P〈0.01）。结论MCP-1的免疫组织化学检测可作为法医病理学诊断VMC所致猝死较为客观的病理形态学指标之一。     

窦房结中央动脉狭窄与心源性猝死

近年来国内外学者相继报道由单纯窦房结中央动脉狭窄引起的猝死。本文就窦房结中央动脉的解剖、组织学特点、病变特点进行综述,探讨窦房结动脉狭窄引起猝死的机制,以期为相关法医病理学死因鉴定提供理论基础。     

Pericardial Cyst: Cause of Sudden Cardiac Death?

Cardiovascular disease is the leading cause of sudden death in the world. The etiology of sudden cardiac death involves a wide range of diseases, but seldom pericardial cysts. A pericardial cyst is an uncommon cyst usually located in the middle mediastinum and rarely in the posterior part. They are usually harmless and asymptomatic. Here, we present a case of a 63‐year‐old woman who presented with dyspnea and hoarseness, but died suddenly after a CT scan was attempted. The detailed forensic pathologic and histologic examination revealed a pericardial cyst located in the posterior mediastinum. Toxicology and biochemistry tests, including tryptase, found no competing cause of death.     

Differentiating cause-of-death terminology for deaths coded as sudden infant death syndrome, accidental suffocation, and unknown cause: an investigation using US death certificates, 2003-2004

We compared written text on infant death certificates for deaths coded as sudden infant death syndrome (R95), unknown cause (R99), and accidental suffocation (W75). Using US mortality files supplemented with the death certifiers' written text for all infant deaths with International Classification of Diseases (ICD)-10 assigned codes R95, R99, and W75, we formed cause-of-death subcategories from common themes identified from the written text. Among all infant deaths in 2003-2004, the underlying cause of death was listed as R99 for 2128 deaths, R95 for 4408 deaths, and W75 for 931 deaths. Among the postneonatal deaths, the differences in subcategories varied between assigned ICD-10 codes: for R99-coded deaths, 45.8% were categorized as "Unknown" and 48.6% as "Pending"; for R95-coded deaths, 67.7% were categorized as "sudden infant death syndrome (SIDS)"; and for W75-coded deaths, 76.4% were categorized as "Suffocation." Examination of the written text on the death certificates demonstrates variability in the assigned ICD-10 codes which could have an important effect on the estimates of SIDS cases in the United States.     

Cardiovascular malformations and sudden death in infancy

BACKGROUND: We survey the postmortem findings of cardiovascular malformations in infants under the age of 1 year who died suddenly and unexpectedly, in a way that mimicked sudden infant death syndrome (SIDS), and evaluate the importance of the malformation for the fatal outcome. METHODS: Four hundred fifty-seven infants under the age of 1 year, who died between 1982 and 2001, were investigated at the Department of Forensic Medicine in Stockholm, Sweden. RESULTS: Cardiovascular malformations were found in 18 infants (3.9%). Only 6 of 18 malformations, mostly severe, were clinically diagnosed before death. In the other 12 infants, cardiovascular malformations were found, such as atrial or ventricular septal defects, coarctation of aorta, stenosis of the aortic or pulmonary artery orifice, and aneurysm of the membranous portion of the interventricular septum. In all instances, the heart weight was increased. CONCLUSIONS: The observation of undiagnosed cardiovascular malformations as the only explanation for the cause of sudden and unexpected death in apparently healthy infants may advocate more examinations of the infant during early life. It is also important to enlarge the debate of the cause of death in infants with cardiovascular malformations. Should they be included in borderline SIDS?