Megaesophagus and Possible Mechanisms of Sudden Death

Abstract:  Achalasia is a neurodegenerative condition characterized by esophageal dysmotility and megaesophagus. Two cases are reported that demonstrate unexpected deaths associated with previously unsuspected achalasia. Case 1: A 66-year-old woman was found dead at her home. At autopsy significant stenosing coronary artery atherosclerosis was found with cardiac failure. In addition, a striking finding was narrowing of the distal esophagus with marked proximal dilatation. The esophagus was completely filled with a large amount of soft masticated food and was bulging anteriorly, compressing the left atrium. Death was attributed to ischemic heart disease complicated by previously unsuspected achalasia. Case 2: An 84-year-old man collapsed and suffered a respiratory arrest while eating. Internal examination revealed narrowing of the cardioesophageal junction with marked proximal dilatation of the esophagus that contained approximately 50 mL of soft semi-fluid masticated yellow food paste. Fragments of yellow masticated food remnants were present in upper and lower airways but not within the stomach. There was a history of dementia with symmetrical cerebral ventricular dilatation found at autopsy. Death was attributed to food asphyxia complicating previously unsuspected achalasia with dementia. Megaesophagus may, therefore, be a significant finding at autopsy that may either be a primary cause of unexpected death or else may exacerbate or compound the effects of pre-existing underlying disease.     

Ruptured cerebral artery aneurysm and bacterial meningitis in a man with osteogenesis imperfecta

This report describes a 38-year-old man with osteogenesis imperfecta who died of a ruptured cerebral artery aneurysm and bacterial meningitis. He had multiple long bone fractures in the past, and approximately 4 months before death, he had surgery to relieve symptoms of basilar impression. The surgery was complicated by a postoperative wound infection. For the next 4 months, he had intermittent headaches and vomiting. He was found dead in his bed at home. At autopsy, he had a ruptured anterior communicating artery aneurysm and bacterial meningitis. Cerebrospinal fluid and blood cultures had growth of Staphylococcus aureus. Osteogenesis imperfecta is a disorder of type I collagen. Type I collagen is present in many tissues, including blood vessels. The etiology of cerebral artery aneurysm formation is multifactorial. Some patients with cerebral artery aneurysms have been shown to have abnormalities in type III collagen. There has not been a reported relationship made between abnormalities in type I collagen and aneurysms. Meningitis can also result in cerebral artery aneurysms, but they are usually due to Aspergillus or Mycobacterium species. The case we report is unique; cerebral artery aneurysm formation may have been due to osteogenesis imperfecta and/or bacterial meningitis.     

Sudden Infant and Early Childhood Death and Sinus of Valsalva Pseudoaneurysms

Two cases of occult pseudoaneurysms of the sinus of Valsalva (SoV) are reported to demonstrate different etiologies and lethal mechanisms. A previously well 9‐month‐old boy who suffered an unexpected fatal cardiorespiratory arrest was found at autopsy to have a ruptured pseudoaneurysm of the left SoV resulting in lethal hemopericardium. A 13.5‐month‐old boy died soon after presenting with a 24‐h history of poor feeding and reduced urine output. At autopsy, destruction of the noncoronary cusp of the aortic valve by bacterial endocarditis was found with extension of the inflammation into a pseudoaneurysm of the SoV with surrounding abscess formation involving the atrioventricular node. Death was most likely due to an arrhythmia. Pseudoaneurysms of the SoV are exceedingly rare but may result in sudden/unexpected death in infancy and early childhood from rupture or involvement of the conduction system or myocardium. Detailed cardiac examination is essential in all unexpected deaths in early life.     

Papillary fibroelastoma of the aortic valve: a sudden death case of coronary embolism with myocardial infarction

Papillary fibroelastoma is a rare benign tumor, occasionally causing angina or sudden death. We report an autopsy case of an aortic valve papillary fibroelastoma with coronary artery embolism. The patient was a 68-year-old Japanese man who had collapsed suddenly in his house. He was a heavy drinker and had a history of liver disease but no notable cardiac event. The autopsy revealed extensive transmural infarction of the inferior wall of the left and right cardiac ventricles. The distal portion of the right coronary artery (segment 4, NYHA) was completely occluded by tumor emboli of the fibroelastoma. At the site of closure of the aortic non-coronary cusp, there was a typical papillary fibroelastoma, which was considered to have originated the coronary embolization.     

Sudden unexpected death due to papillary fibroma of the aortic valve. Report of a case and review of the literature

The case of the sudden unexpected death of a 21-year-old man due to embolization of segments of an aortic valve papillary fibroma to the left main and anterior descending coronary artery is presented. The literature regarding cardiac papillary fibroma is reviewed with particular reference to those cases associated with sudden death.     

Littre hernia--a rare cause of unexpected death in the elderly

A rare case of sudden and unexpected death is reported in an 87-year-old woman who was found dead at her home. At autopsy, the most striking finding was of a right-sided direct inguinal hernia containing a 20 mm infarcted Meckel diverticulum, with proximal small intestinal obstruction. Significant stenosing atherosclerosis was present in all three major epicardial coronary arteries, but with no histological evidence of acute or chronic ischemic myocardial damage. Death was attributed to small intestinal obstruction due to direct inguinal herniation (and infarction) of a Meckel diverticulum (a Littre hernia), complicating ischemic heart disease. Although Littre hernias are not a reported cause of sudden death in the elderly, congenital gastrointestinal anomalies may rarely play a significant role in terminal episodes well beyond childhood years. The autopsy assessment of sudden death at any age involves detailed examination of the entire length of the intestinal tract.     

Sudden death after release from police detention]

3 fatalities shortly after discharge from police custody are reported. Case 1: A 55-year old alcoholic was discharged from police custody after taking a blood sample under violent conditions and found dead in his flat 2 days later. Cause of death: arrhythmia due to acute coronary insufficiency or alcoholic cardiomyopathy. Case 2: A 27-year-old alcoholic was met highly intoxicated twice in the course of one day, was put in the family's care and was found dead the next morning. Cause of death: alcohol/drug intoxication with agonal aspiration. Case 3: A 32-year-old man known to be prone to seizures and to become aggressive under the influence of alcohol was left by the police in medical care confined to a litter in a "hog-tied" fashion with the help of 3 belts. Cause of death: cerebral hypoxia after respiratory and cardiac arrest of unknown reason. A causal relationship with positional restraint is discussed. The cases reported underline the duty of the police to examine prior to discharge from custody with the appropriate lot of care whether the person held in custody has recovered from the helpless state due to disease, injury or intoxication or if medical treatment is required.     

Sudden death in infancy due to bicuspid aortic valve

Symptoms of bicuspid aortic valve usually occur in the age group of 50-70 years, but rarely, it can also lead to sudden unexpected death in infancy and early childhood. The autopsy of a 2-month-old baby boy, found dead in his cot, revealed the heart weight as 25 g, and the macroscopic examination showed the circumference of the aortic valve consisting of two leaflets as 8 mm. The thickness of the left ventricle, right ventricle, and septum was measured as 8, 7, and 10 mm, respectively. Microscopically, the heart revealed hypertrophic changes of myocytes. Subendocardial areas displayed necrosis of myocytes, and severe and diffuse ischemic changes characterized by loss of myofibers and vacuolization. Interstitial pneumonia was identified in the lungs. Death occurred as a result of a congenital bicuspid aortic valve obstructing the left ventricular outflow tract complicated by lung infection. As there are only a few reported cases in infancy, and congenital bicuspid aortic valve can lead to sudden unexpected death, this case is presented to the forensic community.     

Mechanical failure of a mitral valve prosthesis: an unusual case of sudden unexpected death

Sudden unexpected death caused by the failure of a cardiac valve prosthesis is a rare occurrence. A 45-year-old female suddenly died three years following mitral valve replacement for rheumatic mitral stenosis. At autopsy, death was determined to be due to a metallic fatigue of the mitral valve prosthesis.     

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.     

Floppy aortic valve presenting as sudden death

A previously healthy 34-year-old Dutch immigrant to Australia died unexpectedly in his sleep. At autopsy the only significant finding was a floppy aortic valve (FAV). Histologic, histochemical and electron microscopic studies corroborated the macroscopic diagnosis. Previously described associations of the FAV include the floppy mitral valve, Marfan's syndrome, aortic root dilatation and aortic cystic medial necrosis. None of these features were found in the present case which is the first recorded example of isolated FAV presenting as sudden death. The mechanism of death is obscure, and while it is presumed to be dysrhythmic, a detailed histological examination of the cardiac conducting system revealed no anatomic abnormality.     

Sudden Cardiac Death in a Young Man with Migraine-associated Arrhythmia

A 31-year-old man with migraine-induced syncope and bradycardia with subsequent pacemaker implantation died unexpectedly. Clinically unsuspected cardiac anomalies were found at autopsy including myocardial bridging of the left anterior descending artery and shelf-like coronary artery ostia. Nortriptyline was identified by toxicologic analysis. A review of the autopsy findings, the historical information, and the effects of the possible arrhythmogenic circumstances is undertaken and the potential contributions to the death are discussed. Cardiac arrhythmias have been documented during migraines. Coronary artery bridging has been known to lead to ischemia and infarction, ventricular tachycardia, and sudden death; however, these are very rare sequelae. Congenital coronary artery anomalies have been linked to sudden cardiac death, but only rarely cause death in people younger than 31 years. Migraines and the autopsy findings described have been associated with cardiac arrhythmia and sudden death. Altogether, they led to the unexpected death of this young man.     

Delayed pericardial tamponade following a stab wound to a branch of the right coronary artery

A 45-year-old man was attacked with a knife and suffered multiple stab wounds to the chest and abdomen. After surgical treatment and hospitalization for 9 days he was discharged in a stable condition. The following day he was found dead in his apartment. The autopsy revealed a pericardial tamponade caused by acute bleeding from an injured branch of the right coronary artery. This case shows that life-threatening late complications in patients with penetrating cardiac wounds may occur despite an initially uneventful course.     

Fall from height--surprising autopsy diagnosis in primarily unclear initial situations

External post-mortem examination and first police assessments are often not consistent with subsequent autopsy results. This is all the more surprising the more serious the injuries found at autopsy are. Such discrepancies result especially from an absence of gross external injuries, as demonstrated by four examples. A 42-year-old, externally uninjured male was found at night time in a helpless condition in the street and died in spite of resuscitation. Autopsy showed severe polytrauma with traumatic brain injury and lesions of the thoracic and abdominal organs. A jump from the third floor was identified as the cause. At dawn, a twenty-year-old male was found dead on the grounds of the adjacent house. Because of the blood-covered head the police assumed a traumatic head injury by strike impact. The external examination revealed only abrasions on the forehead and to a minor extent on the back. At autopsy a midfacial fracture, a trauma of the thorax and abdomen and fractures of the spine and pelvis were detected. Afterwards investigations showed that the man, intoxicated by alcohol, had fallen from the flat roof of a multistoried house. A 77-year-old man was found unconscious on his terrace at day time; a cerebral seizure was assumed. He was transferred to emergency care where he died. The corpse was externally inconspicuous. Autopsy revealed serious traumatic injuries of the brain, thorax, abdomen and pelvis, which could be explained by a fall from the balcony. A 47-year-old homeless person without any external injuries was found dead in a barn. An alcohol intoxication was assumed. At autopsy severe injuries of the brain and cervical spine were found which were the result of a fall from a height of 5 m. Conclusion: On the basis of an external post-mortem examination alone gross blunt force trauma cannot be reliably excluded.     

Sudden death due to a paraganglioma of the organs of Zuckerkandl

A 20-year-old woman died suddenly in a hospital emergency room after presenting with nausea, vomiting, back pain, and hypertension. At autopsy, an extra-adrenal pheochromocytoma (paraganglioma) of the organs of Zuckerkandl was found, with microscopic focal myocardial necrosis similar to that described in death from adrenal pheochromocytomas. Tumors of the organs of Zuckerkandl are extremely rare; less than 100 such cases have been reported in the world's literature, and only six, including the present case, have presented as a sudden, unexpected death. The symptoms of catecholamine storm may mimic those of acute drug intoxications, leading to misdiagnosis by both clinical physicians and pathologists.     

Unexpected childhood death due to hemolytic uremic syndrome

Two cases of unexpected childhood death due to hemolytic uremic syndrome are reported. A 21-month-old girl who was discovered dead in bed following a short illness was found at autopsy to have overwhelming sepsis resulting from transmural colitis. Escherichia coli serotype 0157A was isolated from the intestine, and renal changes of hemolytic uremic syndrome were found. A 4-year-old girl died suddenly in hospital from intracranial hemorrhage while being treated for hemolytic uremic syndrome-related renal failure. Culture of urine and feces grew verocytotoxin producing E. coli. These cases demonstrate that hemolytic uremic syndrome may be a rare cause of unexpected childhood death and that the diagnosis may not be established prior to autopsy. Postmortem culture of tissues and fluids in cases of suspected sepsis in children may be essential in establishing this diagnosis, because histologic evaluation may be compromised by profound sepsis and tissue putrefaction. Accuracy in diagnosis may have significant public health and medicolegal consequences.     

Death due to baclofen and dipyrone ingestion.

A fatal suicidal intoxication with unusual drugs is reported. A 56-year-old man was found dead in his house; near by the corpse several empty drugs boxes were found. An autopsy was performed and the biological fluids were submitted to a full toxicological work-up.The analytical results supported the hypothesis of a death due to the acute baclofen (4-amino-3-(p-chlorophenyl)butyric acid) and dipyrone (sodium [N-(1,5-dimethyl-3-oxo-2-phenylpyrazolin-4-yl)-N-methylamino] methanesulfonate) intoxication.     

Unexpected childhood death due to a rare complication of ventriculoperitoneal shunting

A 10-year-old boy with Arnold-Chiari malformation, spina bifida, and a ventriculoperitoneal shunt for hydrocephalus died unexpectedly, having appeared to be only mildly unwell with fever on the night before death. At autopsy, the shunt was partially obstructed with an associated enterococcal meningitis. The tip of the shunt was located within the transverse colon, which was embedded in a mass of fibrous adhesions resulting from previous abdominal surgery. Blood cultures were sterile. Intestinal perforation is a rare complication of ventriculoperitoneal shunting that may be associated with the development of meningitis and unexpected death. The autopsy assessment of children with such indwelling devices requires examination of the functional state of the shunt, full septic workup, and determination of the precise location of the tip of the catheter within the peritoneal cavity.     

Kinking of a coronary artery as a rare complication in mitral valve replacement

We present the case of a 70-year old woman who had elective mitral and aortic valve surgery. She underwent surgery without complications for about 4h until 4 pm. Approx. 3h after surgery her condition deteriorated. 1500ml of blood were collected in the chest drainage until 11 pm. An emergency thoracotomy in the patient's bed showed a ventricular rupture. Death occurred around 11:30 pm. At autopsy, the implants of the biological mitral and aortic valves were found to be sewn tightly. There was no vascular injury and no unusual bleedings to the mediastinum. In the left ventricular wall, a rupture of 1cm and a surrounding fresh myocardial infarction area of 10cm×6cm was noted. Preparation of the coronary arteries showed moderate coronary atherossclerosis without stenosis or clots. The left circumflex coronary artery (LCX) showed a sharp, obviously stenosing kink which had been caused by the mitral valve surgery. Exsanguination due to ventricular rupture following myocardial infarction caused by implant-related "kinking" of a coronary artery, was found to be the cause of death.