Sudden Death in Marfan Syndrome

Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow‐up of such persons suffering from Marfan syndrome and upon death will be certified by the treating physician. Thus, an autopsy surgeon rarely comes across such deaths. One such case of sudden death due to cardiac tamponade consequent upon rupture of dissecting aortic aneurysm in a 33‐year‐old male who complained of throbbing pains in the chest, radiating to back, became breathless, cyanotic and died on the way to hospital is being presented here.     

Cardiovascular Conditions and the Evaluation of the Heart in Pregnancy‐Associated Autopsies

Abstract: Pregnancy‐associated death is defined as the death of a woman from any cause during pregnancy or in the year after delivery. This review concentrates on cardiac conditions that may result in pregnancy‐associated death including, but not limited to, acute myocardial infarction, endocarditis, peripartum cardiomyopathy, and prolonged QT syndrome. Lethal vascular conditions may also occur involving arterial dissection and thromboembolism, on occasion exacerbated by hypercoagulability, and altered hormonal and physiologic states. The autopsy evaluation of these patients includes a careful assessment of the medical history particularly for prior pregnancy‐related conditions, fetal loss, and episodes of unexplained collapse. A family history of sudden death at an early age may be significant. At autopsy, evaluation for underlying syndromes such as Marfan, or evidence of intravenous narcotism should be undertaken. Autopsy examination involves careful dissection of the heart and vessels with consideration of conduction tract studies and possible genetic evaluation for prolonged QT syndrome.     

Marfan综合征研究进展

Marfan综合征是一种潜在的致命性结缔组织疾病,呈显性遗传,人群发病率约2～3人/万,主要累及骨、心血管及眼组织。遗传学检查证实系编码微纤维蛋白-1(fibrillin-1)的基因(FBN1)突变所致。部分病例除有骨骼、眼和心血管系统的病理改变外,还有不同程度的皮肤、被膜、肺及肌组织的改变。部分病例由于伴有严重的心血管系统改变而发生猝死。     

Three unusual neuropathologic-related causes of sudden death

We discuss the autopsy findings of three medico-legal cases of sudden death associated with uncommon neuropathologic findings of which the general forensic pathologist may not be familiar. Case 1 was a 43-year-old man who died of a seizure due to malignant melanoma of the temporal lobe associated with neurocutaneous melanosis (NCM). Case 2 was a 57-year-old woman with a history of mental retardation and incoordination because of chronic lead poisoning, who died of a pulmonary thromboembolism due to deep venous thrombosis status post left leg fracture after a fall down a staircase. Autopsy revealed atrophy and gliosis of her cerebellum as a result of childhood lead poisoning. The third patient was a 75-year-old woman who died as a result of acute bacterial leptomeningitis at the cervico-medullary junction with acute inflammation of the connective tissue of her upper cervical spinal column associated with subluxation of her atlantoaxial (AA) joint, also known as Grisel's syndrome.     

Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Loeys–Dietz syndrome is a recently described autosomal dominant disorder with underlying vasculopathy characterized by aortic and other vascular aneurysmal dissection/rupture. A 61‐year‐old man is reported who died suddenly and unexpectedly and at autopsy was found to have a ruptured abdominal aortic aneurysm. Additional findings included dolichostenomelia, high‐arched palate, and pectus excavatum. There was a strong family history of Loeys–Dietz syndrome, although the decedent had never been tested. Death was, therefore, due to a ruptured abdominal aortic aneurysm in a case of probable Loeys–Dietz syndrome. Although Loeys–Dietz syndrome shares common characteristics with Marfan and other connective tissue syndromes, it is a distinct entity with a much more aggressive clinical course. Lethal events may not occur until later adult life; however, the identification of the syndrome and differentiation from other connective tissue disorders at autopsy is important so that genetic investigation of close relatives can be undertaken with prophylactic surgical treatment if necessary.     

Marfan syndrome presenting as aortic rupture in a young athlete: sudden unexpected death?

A 20-year-old man had a spontaneous rupture of the ascending aorta while exercising. The diagnosis of Marfan syndrome, established by the gross and microscopic autopsy findings, was further supported by review of the autopsy report of the father, who had died at age 26 of a nearly identical aortic rupture. To avoid occurrences such as the above, the responsibility of the forensic pathologist should extend beyond the autopsy to appropriate counseling of families in instances where medically treatable hereditary conditions may be present in the survivors.     

Incidental myocardial infarction in Ehlers-Danlos syndrome type IV?

Ehlers-Danlos Syndrome Type IV is an illness that often leads to premature death due to arterial rupture or dissection and is characterized by very fragile connective tissue. This report documents the death of a 30-year-old man with Ehlers-Danlos Syndrome Type IV from myocardial rupture and cardiac tamponade following a myocardial infarction. We believe that Ehlers-Danlos Syndrome Type IV contributed to the coronary atherosclerosis and myocardial rupture in this young man and that this disease led indirectly to his death by myocardial infarction, an unusual cause of death in this syndrome.     

Numerous cortical tubers and rhabdomyomas in a case of sudden unexpected infant death

Sudden infant death syndrome is the leading cause of death in infants between the ages of 1 month to 1 year. Sudden infant death syndrome, a diagnosis of exclusion, can only be made after other explanations for unexpected death have been ruled out. Tuberous sclerosis complex is occasionally the findings in these patients with unexpected infant death. Here, we present a case of an unexpected infant death during sleep with multiple factors that confound the cause of death. We discuss these factors and attempt to delineate their contributions to arrive at a cause and mechanism of death.     

Sudden death from hyponatremia and hypokalemia in a woman with Gardner syndrome.

The authors present the case of a 39-year-old woman with Gardner syndrome who died from marked hyponatremia and hypokalemia. Gardner syndrome is a rare variant of the familial adenomatous polyposis syndrome in which the affected individual develops thousands of polyps within the gastrointestinal tract, with a 100% risk of eventual malignant change. Individuals with Gardner syndrome also develop a variety of extra gastrointestinal abnormalities. In the case presented, a woman with a clinical history of Gardner syndrome who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, fever, diarrhea, and abdominal pain. The symptoms were considered clinically to be due to a viral gastroenteritis. She was admitted to the hospital, where she had episodes of collapse believed to be vasovagal in origin. She suffered a cardiorespiratory arrest and died 24 hours after admission. After her death, electrolyte estimation performed on blood taken shortly before death revealed severe hyponatremia and hypokalemia. Postmortem examination showed the gastric mucosa to be virtually covered by innumerable adenomatous and hyperplastic polyps. Fewer polyps were seen within the small bowel. There was no evidence of malignancy. The features were consistent with Gardner syndrome. Hyponatremia and hypokalemia have been described in patients with villous adenomas and in familial adenomatous polyposis syndromes associated with numerous colonic polyps. The cause of death in this case was considered to be hyponatremia and hypokalemia associated with florid gastric polyps in a woman with Gardner syndrome. Viral gastroenteritis contributed to the death by causing further electrolyte depletion. To the best of the authors' knowledge, death in Gardner syndrome has not been described as attributable to such metabolic disturbance, in particular in those who have only gastric, small bowel, and rectal polyps remaining after total colectomy.     

A comparison of respiratory symptoms and inflammation in sudden infant death syndrome and in accidental or inflicted infant death

Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.     

Fatal hypokalemic thyrotoxic periodic paralysis presenting as the sudden, unexplained death of a Cambodian refugee.

For the last decade, death investigators have been aware of an unexplained syndrome of sudden death occurring among young adult Southeast Asian refugees. Presented here is a rare instance of fatal hypokalemic periodic paralysis associated with thyrotoxicosis masquerading as the sudden, unexplained death of a Cambodian refugee. The usual features of this syndrome were present, including relatively occult thyrotoxicosis, paralysis upon awakening following a high-carbohydrate meal, and hypokalemia. This case illustrates the value of thorough background death investigation and also illustrates the potential of misinterpreting traditional folk medicine coin rubbing (Cao Gio) as signs of physical abuse.     

The psychodynamics of the presidential assassin and an examination of the theme/graphic variables of his threatening correspondence

A case of fatal Reye's syndrome presenting as the second sudden infant death in a family is described. The increasing interest in fatty change in the liver in cases of sudden infant death syndrome is noted and it is suggested that standardised interpretation of findings is essential if its significance is to be correctly evaluated.     

阴性解剖中的心脏性猝死

综述了近年来有关心脏性猝死的分子生物学和电生理学的研究进展,着重讨论了心震荡、先天性长QT间期综合征和Brugada综合征,可能诱发致死性心律失常,发生心脏性猝死。这些功能性病症死亡常可导致病理解剖时无明显客观器质性病理改变。提示法医和病理工作者在遇到阴性解剖猝死时,应注意了解猝死的诱因、继往病史和家族病史,注意排除可能存在的这些病症。     

婴幼儿猝死综合征神经病理学的研究进展

婴幼儿猝死综合征(SIDS)是指发生于1岁以内婴儿无明显病因的突然死亡,其死亡原因及鉴别诊断标准迄今仍不明确。本文参考了近年来采用免疫组化方法对SIDS神经系统病理变化的研究文献,提出SIDS致命的病理生理机制是与睡眠相关的呼吸循环失控或衰竭,即SIDS的主要病因存在于中枢神经系统,但不是单一病因。     

Cardiac rhabdomyoma presenting as sudden infant death syndrome

A case of cardiac rhabdomyoma presenting as sudden infant death in a four-and-one-half month-old infant is reported. The child was the product of an essentially uncomplicated pregnancy and enjoyed good health before his unexpected, sudden death. Autopsy examination revealed the presence of multiple cardiac lesions which histologically were diagnosed as rhabdomyomas. Death was attributed to fatal cardiac arrhythmia caused by the tumor. To the authors' knowledge this represents the first reported case in the forensic science literature of death as a result of cardiac rhabdomyoma presenting as sudden infant death syndrome (SIDS).     

Reye's syndrome in a child on long-term salicylate medication

A case of Reye's syndrome in a four-year-old child on long-term salicylate medication for rheumatoid arthritis is reported. Severe fatty changes of the liver, lipid vacuolation in the renal proximal tubules, and severe brain oedema were the prominent postmortem findings. Symptoms of a trivial infection and vomiting just before death added to the resemblance of this case to Reye's syndrome.     

Simultaneous sudden infant death syndrome: a proposed definition and worldwide review of cases.

Epidemiologic studies of sudden infant death syndrome (SIDS), the leading cause of death of infants during the postperinatal period (7-365 days), have mainly focused on the deaths of single infants. Simultaneous sudden infant death syndrome (SSIDS), the death of a pair of twins occurring at the same time, has received limited attention within the medical community. To the authors' knowledge, this article is the first to describe the 41 SSIDS cases cited in the world literature from 1900 to 1998 by the location of death, a summary of the circumstances surrounding the deaths, and evaluation of these cases in terms of a proposed definition of SSIDS. This evaluation critiques whether the 41 pairs of SSIDS cases adhere to a newly proposed definition of SSIDS. Twin infant deaths must meet all three criteria to be considered SSIDS. The study found that only 12 pairs of twins met all three criteria (29.2%), nine pairs met two criteria (21.9%), alternative cause of death was offered in five pairs of twins (12.1%) and in the remaining 15 pairs (36.6%), only limited information was available; therefore, no conclusions could be reached.     

Nonnatural death masquerading as SIDS (sudden infant death syndrome)

This article relates our experiences with accidental and homicidal deaths in reported sudden infant death syndrome (SIDS) cases. Our intent is to alert personnel in medical and health-related professions as well as death investigators (coroners, law enforcement officials, etc.) that a thorough scene investigation and history need to be obtained when a child's death has been reported, since this may modify the type of autopsy to be performed. It should not be assumed that all children less than 1 year of age who die suddenly die from SIDS.     

Sudden infant death due to neurofibromatosis type I

Sudden infant death syndrome (SIDS) is the unexpected death of an infant under the age of 1 year, where a complete autopsy, including scene investigation, fails to reveal a cause of death. Although the frequency of SIDS has decreased almost 50% over the past 10 years, it remains the leading cause of death in infants aged 1 to 6 months. SIDS is a diagnosis of exclusion and requires the elimination of a wide range of possible causes, including asphyxia, poisoning, abuse, occult heart disease, and other natural disease processes. In this report, we describe the case of an infant death initially suspected to be a SIDS death in which autopsy revealed an optic pathway glioma (optic glioma or hypothalamic glioma) and other stigmata of neurofibromatosis type I.     

Autoerotic asphyxiation in a female

Autoerotic asphyxiation is an unusual but increasingly more frequently occurring phenomenon, with >1000 fatalities in the United States per year. Understanding of this manner of death is likewise increasing, as noted by the growing number of cases reported in the literature. However, this form of accidental death is much less frequently seen in females (male:female ratio >50:1), and there is correspondingly less literature on female victims of autoerotic asphyxiation. The authors present the case of a 31-year-old woman who died of an autoerotic ligature strangulation and review the current literature on the subject. The forensic examiner must be able to discern this syndrome from similar forms of accidental and suicidal death, and from homicidal hanging/strangulation.