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?     

Splenectomy and sudden death.

Four cases of fatal fulminant Streptococcus pneumoniae septicemia in asplenic individuals have been presented, demonstrating the relative lack of specificity of the symptoms and rapidity of the clinical course. Vigorous specific therapy was without apparent effect in two of the cases. No apparent reticuloendothelial deficiency prior to splenectomy was detected in two cases, and theoretically rather than clinically present in the others. Individual was hyposplenic secondary to splenic atrophy. The rapidity of the course and unexpected death will often bring such cases under the jurisdiction of the coroner or medical examiner, and medicolegal investigators should be alert for this syndrome.     

Increase of pulmonary density of macrophages in sudden infant death syndrome

A 1996 cytodensitometric study found increased cellular density in the pulmonary parenchyma of infants who died of sudden infant death syndrome (SIDS). The present study clarifies these results in quantifying the density of immunohistochemical subtyped inflammatory cells. Histomorphometry was used to compare the density of macrophages, granulocytes and T and B lymphocytes in the lungs of two groups of infants. From the post-mortem records of infant deaths between 1983 and 1995, 29 (mean age = 5 months) were randomly selected including 16 cases of SIDS and 13 who died of other non-pulmonary causes. Densities of immunoreactive cells were measured under blind conditions in the parenchyma. The mean density of macrophages was significantly higher in cases of SIDS compared with the controls (P = 0.0318), but there were no differences for the lymphocytes and the granulocytes. These morphometrical results must be interpreted within the methodological limits of this study, especially the non-uniform level of lung inflation between selected subjects. However, the differences in level of inflation are not sufficient to explain the observed increase of macrophage density. Indeed, the mean values of alveolar surface area, which represent an indirect measure of lung inflation, are not significantly different between the two groups. Increase of pulmonary macrophage density in SIDS agrees with three non-exclusive hypotheses: (1) an abnormal inflammatory reaction by expression of Th1 helper cell phenotype activation; (2) consequence of passive smoking; and (3) post-agonal mechanisms. Bacterial superantigens produced by toxigenic bacteria in the respiratory tract could play a role as a trigger factor that initiates a fatal cascade with overproduction of cytokines leading to death. The significant increase of pulmonary macrophage density would be the morphological expression of this potential mechanism of death.     

肺动脉栓塞猝死的法医病理学检验

对５０例肺动脉栓塞猝死案例分析,结果显示：引起肺动脉栓塞猝死的主要原因为创伤（４２％）,心脏疾病（３２％）,外科手术（２０％）等。血栓栓子多来源于下肢静脉（８０％）;其次为心腔内附壁血栓（２０％）。发生猝死高峰季节为１０～１２月;低峰季节为４～６月。猝死场所多见于医院内。最后提出了该病的法医学鉴定注意事项     

Oronasal blood in sudden infant death.

Oronasal secretions are observed frequently in sudden infant death syndrome (SIDS), but overt blood is uncommonly reported. The literature on oronasal blood in sudden infant death is limited. The goal of this study was to determine the frequency of oronasal blood in sudden infant deaths and to examine possible causative factors. Oronasal blood was described in 28 (7%) of 406 cases of sudden infant death. Oronasal blood could not be attributed to cardiopulmonary resuscitation in 14 cases, including 10 (3%) of 300 cases of SIDS, 2 (14%) of 14 accidental suffocation cases, and 2 (15%) of 13 undetermined cases. Eight of the 10 infants in cases of sudden infant death were bedsharing: 5 with both parents, 2 between both parents. The infant in 1 SIDS case was from a family that had had three referrals to Child Protective Services. Oronasal blood not attributable to cardiopulmonary resuscitation occurs rarely in SIDS when the infant is sleeping supine in a safe environment. Bedsharing may place infants at risk of suffocation from overlaying. Oronasal blood observed before cardiopulmonary resuscitation is given is probably of oronasal skin or mucous membrane origin and may be a sign of accidental or inflicted suffocation. Sanguineous secretions that are mucoid or frothy are likely of remote origin, such as lung alveoli. The use of an otoscope to establish the origin of oronasal blood in cases of sudden infant death is recommended.     

Unexpected sudden death from coronary sinus thrombosis. An unusual complication of central venous catheterization

Coronary sinus thrombosis is an unusual but potentially serious complication of the use of central venous devices. We report a fatal case of coronary sinus thrombosis in relation to a malpositioned central venous catheter. The death occurred very soon following the beginning of symptoms and the cause could not be suspected. Direct trauma of the catheter on the coronary sinus endothelium seems the most probable cause of the thrombosis.     

Tumours and sudden death

A series of 27 sudden deaths caused by tumours, amounting to 1.2‰ of all deaths in the 5-year period studied, is found to include 9 cases where the death had also been unexpected, since the fatal tumour had gone undiagnosed. Four of these cases had had no preceding symptoms. Males were predominant (19 males vs. 8 females), and all the sudden unexpected deaths were males. The age range was 24 – 86 years for the males and 45 – 83 years for the females.The most common tumour was bronchial epidermoid carcinoma, which caused sudden death by massive haemorrhage into the lungs or externally. In the latter case the scene of death at home resembled a violent death. Other tumours found were mostly gastric or oesophageal epidermoid carcinomas and adenocarcinomas of the kidney, pancreas, ovary and colon.     

Histologic findings in the esophagus in infancy. A contribution to the question of gastroesophageal reflux in sudden infant death

In 53 mortalities (1 stillbirth, 2 neonates, 7 cases up to 5 years of age and 43 SIDS cases), systematic histological investigations were carried out on the esophagus. The results comprised a topography of epithelial defects and inflammatory wall changes. In the SIDS cases, focal epithelial defects could be detected in 14% and fresh inflammatory infiltrates in 7% without preferential localization. There were also lymphocytic reactions of varying extent (62%), but mainly in the upper one-third of the esophagus. Similar findings were found in the 10 non-SIDS cases. The results pattern is discussed with regard to its pathological relevance. It appears to be doubtful that the inflammatory changes are the result of reflux, as reflected in morphological terms.     

Human herpesvirus-6 and sudden death in infancy: report of a case and review of the literature

Investigation of sudden death in infancy is a vital function of the medical examiner's office. Surveillance of these cases may lead to recognition of new diseases or new manifestations of previously described diseases. Human herpesvirus-6 (HHV-6) is a relatively newly described virus that has been recognized as a cause of acute febrile illness in early childhood. While most cases are apparently self-limited, seven fatal cases have been reported. We present a case of a seven-month-old Latin American male with recent otitis media and vomiting who was found dead in bed. Autopsy revealed interstitial pneumonitis with an atypical polymorphous lymphocytic infiltrate in the liver, kidney, heart, spleen, lymph nodes, and bone marrow, associated with erythrophagocytosis. Polymerase chain reaction (PCR) analysis of formalin-fixed paraffin-embedded tissue was positive for HHV-6 and negative for Epstein-Barr virus (EBV) and cytomegalovirus (CMV). HHV-6 was also detected in the atypical lymphoid infiltrate by in-situ hybridization.     

Tuberculosis and sudden death in Baghdad

Tuberculosis deaths represent a recognizable proportion of all medicolegal statistics in and around Baghdad. Out of the total number of autopsies performed at the Medicolegal Institute at Baghdad, Iraq, in the years, 1948, 1953, 1958, 1963, 1968, 1973, and 1978, 168 sudden deaths were attributed to tuberculosis. Bilateral pulmonary tuberculosis was the principle lesion in the majority of the victims. Tuberculosis cavitation was the major finding in 126 cases, followed by advanced pulmonary TB without cavitation in 25. There was no gross abnormality, except for a histological basis of pulmonary TB associated with miliary TB involving hepatic, renal, meningeal, and mesenteric organs in the remaining 17 autopsies. The abrupt and suspicious deaths in older people, especially during cold months, is more likely due to TB. Autopsy should be performed in all cases of sudden and suspicious deaths. Histological study of different body organs, whether death is attributed by the investigative authority or not related to TB, should be required in all medicolegal autopsies, in order to obtain a true picture of TB as a natural cause of death.     

Activated protein C resistance is uncommon in sudden death due to pulmonary embolism

Activated protein C resistance (APC-R) is the most common inherited defect of the coagulation system known to date, affecting 3-5% of Americans. It is an autosomal dominant disorder associated with an increased risk of venous thrombosis and is reportedly found in 21% of individuals with deep venous thrombosis. Medical examiners are in a unique position to make the diagnosis since a fatal pulmonary embolism may be the first manifestation of the disorder. This study examines the prevalence of APC-R in individuals who die suddenly of pulmonary embolism to help medical examiners decide if routine testing is indicated. We examined 66 cases of sudden death due to pulmonary embolism seen at the Bexar County Forensic Science Center in San Antonio, Texas, from 1993-1997. The median age was 46 years with a range of 14 to 93 years. Fifty-three percent were Caucasian, 24% were African-American, and 23% were Hispanic. Twenty-seven percent had no known risk factors for pulmonary embolism. Whole blood was tested for the factor V codon 506Q mutation responsible for APC-R using polymerase chain reaction. The prevalence of APC-R was 4.5%, which is similar to the prevalence of APC-R in the general American population. These data imply that individuals with APC-R are not in increased risk for sudden death due to pulmonary embolism, or, conversely, that most fatal pulmonary emboli seen in the medical examiner setting are not induced by APC-R. Routine postmortem testing for the factor V 506Q mutation does not appear indicated at this time, given the low prevalence and high cost of testing.     

Occurrence of myocarditis in sudden death in children.

This study suggests that the prevalence of "silent" myocarditis may be higher in the pediatric population than is generally suspected and may contribute to a significant number of sudden and unexpected deaths in children, particularly those older than one year of age. The incidence of histologic myocarditis in children dying a violent death is similar to that reported as an incidental finding in adults.     

Adrenal hypofunction and sudden death

Adrenal insufficiency is an infrequent and easily overlooked cause of sudden death, often occurring in individuals being treated for other serious disease processes. Three cases are presented to demonstrate some of the clinical presentations encountered, and the symptoms and signs are discussed.     

Toxicology and sudden infant death

One hundred thirty cases of sudden infant death occurring in Wayne County, Michigan, (population 2.7 million) were analyzed for possible drugs. The toxicological protocol has been outlined. Six cases were found to be positive, and in five of these the drugs found had been prescribed for a variety of illnesses. In one case methadone was found in the blood of an infant whose mother was undergoing methadone treatment for drug addiction, the drug being transmitted through breast milk. In none of the 102 cases of sudden infant death syndrome (SIDS) included in the study did the toxicological results affect the diagnosis. In our study, toxicological analyses never contradicted an initial diagnosis of SIDS, and, therefore, we feel that this diagnosis should be made promptly based on investigative and autopsy findings.     

Malignant hyperpyrexia and sudden death

Two teenage boys, brothers, died suddenly within 2 months of each other. No clear cause of death could be identified in either case. Because of previous reports of the association between malignant hyperpyrexia and sudden death in otherwise healthy young men, we examined the parents. The father was found to be malignant hyperpyrexia-susceptible.     

Pseudoxanthoma elasticum and sudden death

Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers within arteries, eyes, and skin. Characteristic features include yellow-orange papular skin lesions, angioid streaks radiating out from the optic discs, and arterial calcification. The prevalence in the general population varies widely from 1/70,000 to 1/160,000. PXE has an autosomal recessive inheritance pattern and results from mutations in the ATP-binding cassette transporter C6 (ABCC6) that has been mapped to 16p13.1. Over 300 loss-of-function mutations have been identified. Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and cerebral ischemia or hemorrhage. Because of the heritable nature of the disease, family counseling and screening are in order when previously unsuspected cases are encountered at autopsy.     

Massive ovarian cyst and sudden death

ABSTRACT: Massive enlargement of an ovarian cyst is an uncommon cause of morbidity and a rare cause of mortality due in large to part to noninvasive imaging techniques that usually permit early detection. When an ovarian cyst reaches giant proportions, it produces abdominal enlargement often with a fluid wave resulting in a condition that mimics ascites, called pseudoascites. Despite their impressive appearances, such cysts often are operable for cure. We describe a case of a middle-aged woman who presented 3 years before her death with symptoms from an undiagnosed giant cyst and given a diagnosis of ascites of undetermined etiology. She subsequently died at home unexpectedly, and at autopsy, she was found to have a massively enlarged but otherwise benign mucinous cystadenoma.     

Evaluation of sudden death in epilepsy

Records of the Office of the Chief Medical Examiner of the State of Maryland were reviewed for all cases of natural deaths due to epilepsy occurring in 1981 and 1982. Cases involving unclear seizure history, alcoholism, or other superimposed disorders were excluded. Twenty-nine cases were accepted and analyzed with respect to age, race, sex, circumstances of death, neuropathology, and anticonvulsant therapy. Most cases involved black males, the median age at death was 26 years, and the vast majority died in bed or in the bedroom. Less than half of these individuals had neuropathological lesions. Most had detectable levels of anticonvulsants in post-mortem blood; more than half the decedents with detectable levels of phenobarbital showed therapeutic levels of this drug.     

Femoral artery pseudoaneurysm and sudden death

Pseudoaneurysm formation may be a late complication of vascular grafting. A case of sudden death in an 83-year-old woman with a previous aortobifemoral bypass graft is reported that was due to spontaneous hemorrhage from a pseudoaneurysm of the graft site that had eroded through the overlying skin and subcutaneous tissues. Pseudoaneuryms do not have to be of a particularly large size for rupture to occur. Social isolation and age-related cognitive impairment may delay treatment in older individuals resulting in a lethal outcome. The elderly are also more vulnerable to serious morbidity and death under these circumstances owing to significant underlying cardiovascular and respiratory disease and/or anticoagulant medication. Rarer conditions that may cause pseudoaneurysms include tumors and vasculidites. The possibility of an infectious contribution to the pseudoaneurysm should be considered and microbiological sampling undertaken.     

Papillary hyperplasia of the lingual tonsil and sudden death in epilepsy.

Papillary hyperplasia of the lingual tonsils is a rare entity not previously reported at autopsy. We report a case that occurred in a 19-year-old man who died suddenly from his epilepsy, associated with aspiration of gastric contents. We describe the pathological features of this unusual condition, discuss the possible significance in this case and stress the importance of routine examination of the tongue and pharynx in every autopsy.