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Case Report

Sudden Death due to Nontraumatic Diaphragmatic Hernia in an Adult

DeAlwis, Kanthi MD; Mitsunaga, Erin M. BA

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The American Journal of Forensic Medicine and Pathology: December 2009 - Volume 30 - Issue 4 - p 366-368
doi: 10.1097/PAF.0b013e318187e013
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Sudden death in an adult due to an undiagnosed congenital diaphragmatic hernia (CDH) is a very rare occurrence. The majority of adult-onset diaphragmatic hernia is associated with trauma.

CDHs are the result of an incomplete fusion of pleuroperitoneal folds during the first trimester of gestation.1 The most commonly occurring CDH was discovered in 1848 by Vincent Alexander Bochdalek, who was a Czech anatomy professor. This so-named hernia occurs through the foramen of Bochdalek and is located posterolaterally in the diaphragm.1–4 Bochdalek's hernias are found predominantly among males and occurs through the left hemidiaphragm in most of cases (70%–90%).1,2

This potentially fatal condition is usually discovered during early infancy in a reported frequency of 1 in 2500 to 1 in 4000 live births.5 Symptoms of neonatal CDH tend to present as pulmonary problems due to overcrowding of the thoracic cavity; other manifestations, like gastrointestinal (GI) pain or discomfort, tend to affect older children and adults.6,7 Adult cases in which symptoms are expressed have usually been brought on by previous traumatic or physically strenuous events (eg, a car accident).8–11 However, the total number of adults reported in the literature presenting with symptoms due to a CDH has been estimated at approximately 100 cases.7,12 Early diagnosis and rapid surgical intervention are necessary for successful treatment of affected individuals. However, due to the sudden onset of nonspecific and subtle symptoms, prompt diagnosis of this significant condition remains an issue. The following case presents a rare circumstance in which a 24-year-old woman died of a left-sided Bochdalek hernia without any precipitating traumatic event. On the basis of the decedent's age and lack of trauma, this case is of clinical interest since her presentation is both unusual and unexpected.


A 24-year-old white woman arrived at the emergency room complaining of sharp, left-sided abdominal pain over a 24 to 36 hour period. The pain was initially limited to her left abdomen, which gradually spread to the epigastric area and intensified, particularly while taking deep breaths. Other symptoms included nausea and vomiting. Upon palpation, her abdomen was soft with slight tenderness in the left upper quadrant and epigastrium. She had apparently experienced similar discomforts 6 months prior to admission, but the pain resolved itself after 1 to 2 hours. As a result, she had not sought medical assistance.

An abdominal CT scan was performed 4 hours following admission to rule out pancreatitis and a chest CT scan at 5 and one-half hours to rule out diaphragmatic rupture. While returning to the ER from her CT scans, the decedent appeared to be hyperventilating with shortness of breath and her abdominal pain began radiating to the midsternal region. Seven minutes later, she became unresponsive, apneic, and pulseless. Death was pronounced approximately 40 minutes later, a little more than 6 hours after admission.

The decedent did not have a significant medical history; she did not smoke or drink alcohol and was not pregnant either before or at the time of her death. Neither she nor her mother could recall any previous traumatic or physically strenuous episode at any point that may have elicited the decedent's discomforts.

Autopsy was performed approximately 5 hours after pronouncement. The decedent's external examination did not reveal any discernible injuries or other abnormalities.

Internal examination revealed a 4-cm defect of the left hemidiaphragm with smooth edges through which the omentum, severely dilated and fluid-filled stomach, transverse colon, and a portion of the spleen had herniated into the left chest cavity. There was no excess fluid present in either the pleural, pericardial, or peritoneal cavities. Both lungs were edematous and showed scattered anthracosis; the left lung was collapsed. The liver was also mildly congested with severe hepatomegaly. Toxicology revealed only the presence of caffeine.


CHDs are generally discovered in children who exhibit respiratory distress within the first few hours or days of life.6 Among those infants who receive treatment to repair the diaphragmatic defect, the survival rate is estimated at 68%, up from 50% in the 1970s and 1980s.5 There are few infants who survive several weeks or years into their childhood without any resultant symptoms or discomfort; statistics show that infants who are diagnosed with a Bochdalek hernia after 2 months of age make up 5% to 25% of all cases.6,7 CDHs (85%) occur on the left side and small Bochdalek's hernias, which are posterolateral congenital left hemidiaphragmatic defects, may remain asymptomatic and hence undiagnosed until adulthood.

The “late-presenting”12 or “adult-onset”8 cases tend to exhibit gastrointestinal symptoms reflecting obstruction more often than respiratory complications, which becomes a complex diagnostic problem.6 If the defect is large enough to cause respiratory or gastrointestinal symptoms, utilization of imaging methods, including plain radiography of the chest, to establish prompt diagnosis and surgical intervention is necessary. In our case, CT scans of the abdomen revealed herniated abdominal contents occupying most of the left chest cavity, and the diaphragm appeared thinned with focal irregularity. Although an acute diaphragmatic rupture versus chronic eventration or herniation was suspected, the patient did not receive surgical intervention. An hour and a half later, the chest CT scan confirmed the herniated contents with no perceptible diaphragm and shift of mediastinal contents to the right.

The majority of adults who become symptomatic have experienced some kind of previous trauma.8–11 Recorded causes that precede the development of symptoms include “...blunt or penetrating trauma, physical exertion (including sexual intercourse), pregnancy, labor and delivery, sneezing or coughing, and even ingestion of a large meal.7” In Japan, a 38-year-old woman reportedly developed a left-sided Bochdalek hernia after playing tug of war.11

It is not always unusual for adults with a Bochdalek hernia to live free of complications or discomfort.7 What is unusual, however, are the occurrence of hernia-related symptoms in the absence of some physically traumatic event. One case report in the literature of a nontraumatic diaphragmatic hernia acknowledged that while there was no history of trauma to the patient's affected area, adhesions had been formed between the right lung and diaphragm. Because of these formations, the authors could not rule out the possibility that the patient had experienced a traumatic event at some time in her past, with the diaphragmatic hernia being a secondary effect.4

In our case, the decedent had no record of any traumatic event at any time in her life or autopsy findings consistent with some prior traumatic event. Since the decedent had never been pregnant, pregnancy and its associated diaphragmatic stressors could be eliminated as a contributing factor. Ingestion of a large meal could also be ruled out since the severely dilated stomach contained 2 liter of fluid only; there was no evidence that a large meal had been eaten near or surrounding the time of her death. The only contributing factor that could not be completely ruled out was physical exertion. However, the decedent had her initial episode of GI symptoms 6 months earlier, which suggests a slow progression of the herniation since she had remained asymptomatic between the 2 episodes with a significant amount of time between each. It would seem more likely that, had the decedent experienced some type of physical exertion, the strain would have hastened her condition.

This case is of particular clinical interest since it is highly unusual for an adult female without a history of trauma to die of a previously undiagnosed CHD. As other reports have shown, symptoms of a CDH in older individuals may be subtle and are usually gastrointestinal in nature, if any are exhibited.6 When a diagnosis has been established, prompt surgical intervention is necessary to prevent a potentially fatal outcome.

CT scan at level of right hemidiaphragm. Marked gastric distention with air-fluid level extending into and occupying most of left chest cavity.
CT scan at level of aortic arch. Shift of mediastinal contents to the right. Portion of distended colon in left chest cavity.
Left chest cavity occupied by the herniated abdominal contents.
Dilated stomach and transverse colon (circled) protruding into the left chest through the smooth edges of the diaphragmatic defect.


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