Background

Congenital diaphragmatic hernia (CDH) is an abnormality found in 1/2500 newborns, with a survival rate of 67% [1]. A primary characterization of CDH is that the diaphragm fails to form properly during embryogenesis. This incomplete formation of the diaphragm allows abdominal contents to herniate into the chest creating a mass-like effect that impedes lung development. Clinical presentation ranges from asymptomatic cases to serious respiratory or gastrointestinal symptoms, and sometimes haemodynamic instability. The broad spectrum of severity in patients with CDH is dependent on the degree of pulmonary hypoplasia and pulmonary hypertension. Posterolateral hernias (Bochdalek hernias) are the most common hernia type (>80%) with the majority occurring on the left side (85%), less frequently on the right side (13%) or bilateral (2%) [2].

Diaphragmatic rupture (DR) is an infrequent complication of trauma that occurs during 5% of trauma, including vehicle accidents [3–5]. Diagnosis is usually delayed; patients may be asymptomatic for years after trauma, until complications occur. Traumatic rupture of the diaphragm is considered an indication for surgical repair, especially in symptomatic patients [6].

However, there is no consensus on the absolute indications to surgery and about the timing. The onset of complications carries highest mortality and morbidity rates; therefore, it makes emergency surgery mandatory. During the past decades, primary suture repair or covering the defect with a synthetic mesh has been the standard procedures. More recently, biologic meshes have been thought to be effective in closing the diaphragmatic defect, inducing limited inflammatory response and minimizing adhesion formation [7]. Laparotomy or thoracotomy are the traditional treatments for patients with DR. Moreover, laparoscopic approaches for repair of hernias have recently gained in popularity [8]. Robotic approach is not yet described as effective approach in emergency, and it is reported in literature in only one case [9] in elective surgery.

This paper includes the surgical experience of congenital or traumatic diaphragmatic hernia of a surgical unit in emergency setting and reports the literature.

Methods

Six cases of diaphragmatic hernia were observed in emergency at our Academic Department, with respiratory and abdominal symptoms. No breath sounds were detected in the left chest area, but bowel sounds were audible. Emergency surgery was performed in all cases. The hernia contents were reduced, and the defect was closed with primary repair or mesh.

Case 1: A 63-year-old woman was admitted with complaints of bowel obstruction and dyspnoea. Anamnesis revealed chronic abdominal pain, mental retardation and strabismus. In the physical examination, no breath sounds were detected in the left chest area; however, bowel sounds were audible. Chest X-ray and barium enema showed the transverse colon displaced into the left hemithorax above the splenic flexure. Computed tomography suggested collapse of the lung and the mediastinal shift towards the right. The left diaphragmatic hernia contained the transverse and descending colon (Fig. 1a). Emergency laparotomy was performed, and a left diaphragm agenesis, mega colon (diameter 10 cm) and left liver agenesis were found. An intra-operative bronchoscopy revealed hypoplasia of the left lung (Fig. 1b). A subtotal colectomy with ileo-rectal anastomosis was performed, and primary repair of diaphragm was done. The post-operative course was uneventful, and the patient was discharged on the 15th post-operative day. The research of abnormalities of the karyotype, phenotype and genetic pattern was negative for all the known congenital syndromes.

Fig. 1
figure 1

a CT scan shows collapse of the lung and the mediastinal shift towards to the right side. The left diaphragmatic hernia contained the transverse and descending colon. b Intraoperative evidence: diaphragmatic defect allows migration of viscera

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Case 2: A 50-year-old woman was admitted with complaints of dyspnoea, chest and abdominal pain. No breath sounds were detected in the left chest area. There was no history of trauma. Chest X-ray revealed mediastinal shift towards the right and bowel gas in the left chest. CT scan showed large annular diaphragmatic defect which allowed passage of the stomach, spleen and colon (Fig. 2). An emergency combined chest-abdominal approach was performed, and contents were reduced repairing the defect with Mersilene mesh®. Thoracotomy approach was used to release the thoracic dense adhesion between the chest and the abdominal contents. Before placing the mesh, the anaesthesiologist increased the tidal volume to expand the collapsed left lower lobe of the lung and a chest drain was placed in the left pleural space. Immediate post-operative chest X-ray showed expansion of the left lung with minimal pleural effusion. Post-operative course was uneventful, and post-operative stay was 13 days.

Fig. 2
figure 2

CT scan shows in left side, large diaphragmatic defect which allows passage of the stomach, spleen and colon (referred to as Bochdalek hernias) and complete collapse of left lung

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Case 3: A 73-year-old woman arrived with complaint of breathlessness and dysphagia. No history of trauma was evident in anamnesis. Her current medical history included hypertension and hypothyroidism. Chest X-ray and barium studies demonstrated the presence of stomach in left hemithorax. CT scan revealed the presence of large diaphragmatic hernia which allowed the stomach to herniate into the chest. Emergency laparoscopy was performed; hernia contents were reduced; and a repair of the defect with Proceed mesh® was done (Fig. 3). The post-operative course was uneventful, and patient was discharged 7 days after surgery.

Fig. 3
figure 3

Laparoscopic image during correction of defect with synthetic mesh

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Case 4: A 63-year-old woman was admitted with complaints of breathlessness for 2 days, which was gradually progressive and associated with left-sided chest pain and a dry cough. There was a history of a vehicle accident 6 years ago. The initial chest radiograph revealed an elevated left hemi diaphragm with presence of a colon gas shadow in the lower half of the hemithorax. CT scan suggested left diaphragmatic hernia which allowed passage of the spleen, left lobe of liver and transverse colon (Fig. 4a). Surgery was performed in emergency, reducing contents and repairing the defect with biological mesh (Fig. 4b; Tutomesh, bovine pericardium mesh ®). The patient was discharged on the 10th post-operative day, without complications.

Fig. 4
figure 4

a CT scan suggests left diaphragmatic hernia which allowed migration of colon in left chest. b Intraoperatively, biological mesh repairing defect

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Case 5: A 50-year-old man was involved in a work accident. He was managed in accordance with Advanced Trauma Life Support protocol. He arrived in the emergency room with decreased breath sounds on the left side, dyspnoea, fever, left hypochondrium hematoma, subcutaneous emphysema, and chest and abdominal pain. His current medical history included obesity and treated hypertension. Initial chest radiography and barium studies demonstrated stomach in the left hemithorax. CT scan revealed stomach and spleen in left hemithorax, consistent with a traumatic diaphragmatic rupture with complete disruption of all muscular layers, collar sign and multiple rib fractures, fractured left humerus and scapula (Fig. 5a, b). At exploratory laparotomy, traumatic defect in the left diaphragm was found, with stomach and spleen in the left thorax (Fig. 5c). The hernia contents were reduced and the defect was closed with biologic mesh (Tutomesh bovine pericardium mesh ®). Post-operatively, the patient was placed in an intensive care unit. He was transferred from the ICU on the 8th post-operative day and discharged on the 20th day.

Fig. 5
figure 5

a 3D-CT scan shows rib fractures. b CT scan shows stomach and spleen in the left hemi-thorax, complete disruption of all muscular layers. c Intraoperatively, repair of traumatic defect in the left diaphragm

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Case 6 [10]: A 51-year-old man, referred to a history of 5 months of dyspnea, abdominal pain, nausea and vomiting. These symptoms had increased in severity during the previous 2 weeks. Anamnesis revealed left splenopancreatectomy 4 years earlier for non-Hodgkin’s lymphoma. The physical examination revealed a moderate peritoneal effusion without a peritoneal reaction. The introduction of a nasogastric tube remarkably improved symptoms. The chest X-ray showed a large fluid level beneath an apparently raised left hemi diaphragm (Fig. 6a) hypothesizing a left hemi diaphragmatic rupture with gastric herniation; diagnosis was confirmed by barium studies and a thoracic-abdominal computed tomography. An emergency left thoracotomy was performed, revealing a volvulus of the stomach, with some intestinal loops. Part of the transverse colon was incarcerated herniating through the torn diaphragm. The hernia was localized into the posterior side of the left hemi diaphragm with a diameter of 12 cm. During surgery, dense adhesions between the herniated organs and the left pleura-lung, as well as a marked reduction in left lung volume and an inflammatory mass in the greater omentum adherent to the diaphragm, were found. Thus, a reduction of the volvulus, an adhesiolysis and a resection of the mass were performed. Finally, a direct suture of the left diaphragmatic defect was employed (Fig. 6b, c). The patient had an uneventful recovery and histology showed Hodgki’s lymphoma.

Fig. 6
figure 6

a X-ray shows herniated stomach into the chest. b Thoracotomy shows large diaphragmatic defect. c Repair of defect

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Review of the literature

A systematic review was performed by consulting PubMed/MEDLINE from 1983 to 2017 using the terms “emergency surgery”, associated with “traumatic diaphragmatic rupture”, and “congenital diaphragmatic hernia”. The search returned 555 papers (Fig. 7). Three hundred twenty-three publications were excluded because these articles were not written in English (N = 87), presented cases in childhood (<19 years old; N = 178) or were not interesting human species (N = 58); 32 papers were excluded because regarded hiatal hernia, 40 paraesophageal hernia and 59 elective setting. Consequently, the full texts of 101 articles were assessed for eligibility: the ethiopathogenesis was traumatic in 697 patients and congenital in 38 (Table 1).

Fig. 7
figure 7

Flow chart of the literature selection process

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Table 1 Review of literature showing demographics data, diagnosis and treatment
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Pathogenetic mechanism

Diaphragmatic rupture with abdominal organ herniation was first described in 1541 by Sennertus [11]. Congenital diaphragmatic hernias are prenatally or during the neonatal period diagnosed. On the contrary, CDH in adulthood are exceedingly rare and can occur through an anterior parasternal Morgagni foramen or through a posterolateral, mainly left-sided, named as Bochdalek hernia, firstly described in 1848 [12]. The aetiology is still under study, but the disease is due to the failure of closure of the canal between the septum transversum and the oesophagus during the 8th week of gestation. Morgagni hernia is a rare disease caused by the defective development of the sternal attachments to the diaphragm. Traumatic diaphragmatic hernias are thought to be produced by a sudden increase in the pleuroperitoneal pressure gradient occurring at areas of potential weakness along embryological points of fusion [13].

DR usually result from blunt or penetrating injuries or iatrogenic causes and result in entry of an abdominal hollow viscus or the omentum into the pleural cavity, which may lead to incarceration and even strangulation with a fatal outcome. Traumatic diaphragmatic hernias are frequently caused by a penetrating injury (10–19%), sometimes by blunt thoracic-abdominal trauma (5%) [14, 15]. Moreover, some authors described rare and particularly cases of DR after surgery or pregnancy; that is Sano A. et al. reported a case of a pregnant woman in the 28th week of pregnancy, who was underwent to emergency caesarean section and repair of the diaphragm [16]; Moussa G. et al., described a right DR in a patient with previous history of window fenestration and sarcoidosis [17]; Nakamura T. et al., reported a case of right DR in patient with a history of hepatic carcinoma treated with radiofrequency ablation [18]. Furthermore, there was an association between Marfan’s syndrome and CDH as Barakat et al. reported [19].

Site of rupture

CDH formation is found 80% on the left side [20]. Also, 88–95% of diaphragmatic ruptures occurred on the left side [21], especially, blunt trauma causes large diaphragmatic defects, commonly involving (>80%) the left posterolateral diaphragm [22]. The right haemidiaphragm is stronger than the left one because of the size of the liver which has a protective effect. For this reason, the side ruptures are very rare and associated with high mortality and morbidity rate [23].

The review of literature reported in this study confirmed the high frequency of left defect 80%, and only two cases of bilateral DR were reported.

Presenting symptom and investigations

Nayak et al. described severe symptoms, in 46% of CDH cases with 32% of mortality due to visceral strangulation [24]. Moreover, the literature analysis shows a variable rate of delayed symptoms (5–45.5%) [25, 26]. Late-presenting CDH of left sided typically produces acute, obstructive, gastrointestinal symptoms, chronic dyspnea, chest pain, recurrent abdominal pain, postprandial fullness and vomiting, evolving to cardiorespiratory failure [27]. Indeed, right-sided CDH is usually associated with only respiratory issues because partial liver displacement may block the further herniation of hollow viscera [1]. Although the presence of bowel sounds within the chest and the absence of breath sounds are typical findings associated with a CDH, a misdiagnosis rate of 38% has been reported [28]. Obviously, in totally asymptomatic cases, diagnosis is very hard. On the contrary, when acute presentations occur because of the increasing of abdominal pressure and consequent rapid visceral displacement into the chest or due to rapid distension of previously herniated viscera, diagnosis is clear [29, 30]. Chest X-ray and barium studies are useful for determining which viscera have herniated into the thorax. The most common reported radiological finding of CDH is the opaqueness of the hemithorax usually associated with mediastinal shift to the contralateral side. Moreover, the position of the nasogastric tube in the chest cavity will provide an important indicator and prompt correct diagnosis. Computed tomography can be considered the gold standard technique for diagnosis, offering the unique opportunity to evaluate the presence, size and location of a diaphragmatic defect, as well as the contents of various types of diaphragmatic hernias [31] and showing sensitivity and specificity of 14–82% and 87%, respectively [32]. MRI is also useful, but usually it is not performable in emergency. However, it is usually employed in stable patients or where the CT scan is equivocal [33]. According with literature, in this reported experience, a definitive diagnosis was made with CT scan and barium studies.

Late-presenting CDH is considered as a benign condition but it can rapidly becomes a life-threatening disease [1, 27, 28, 31, 33]; consequently, an immediate surgical treatment is mandatory. Associated anomalies in late-presenting CDH patients, such as congenital heart disease, Fryns syndrome and trisomy 18, have been reported in 8.6–80% of cases [1, 2, 27, 28], significantly increasing the mortality rate. At this proposal, in case 1, even if there was a high suspicion of congenital syndrome, surprisingly it was not confirmed by genetic studies.

Surgical treatment

Surgical repair typically involves primary or patch closure of the diaphragm through an open abdominal approach. When the diagnosis is delayed, due to suspicions of adhesions between viscera and chest, thoracotomy or combined thoracic-abdominal approach is preferred, as in the reported case 2. Some authors have reported success with thoracoscopic approach but vitiated by an increased incidence of hernia recurrence [34–36]. Furthermore, during thoracoscopy, an intraoperative pulmonary hypertension with subsequent hemodynamic instability could develop; moreover, the placement and management of a patch results in substantially longer operating times. For these reasons, thoracoscopic repair of CDH is preferred in the presence of small diaphragmatic defects and/or mild pulmonary hypertension [37]. Nowadays, the laparoscopic approach is safe and feasible for CDH and it could be an excellent option [37], as in case 3.

However, emergency surgery is the treatment of choice for diaphragmatic rupture. In delayed cases, thoracic approach is recommended to reduce viscera-pleural adhesions and to avoid intra-thoracic visceral perforation with catastrophic complications [38]. When the suspicion of intestinal obstruction is evident, an abdominal approach may also be required to control organs. Although the type of closure used for diaphragmatic hernias is still a matter of debate, it is generally accepted that most defects can be primarily closed with a non-absorbable suture [39]. Mesh repair usually is used when the defect is too large to be primarily closed and the use of tension free mesh is vital to the success of the procedures. Recently, biologic mesh has been introduced to replace the synthetic one because of its lower rate of hernia recurrence, higher resistance to infections and lower risk of displacement [7, 40]; however, limited evidence in literature yet exists about their superiority. Indeed, in our previous experience, biologic meshes have also been used in contaminated surgical fields with favourable results [40]. However, because of the rarity of this condition, clinicians should be encouraged to publish their experience with biologic meshes in diaphragmatic hernia repair [7].

Conclusions

When a diaphragmatic hernia is diagnosed, surgery is the treatment of choice, above all in emergency setting. A multidisciplinary approach in dedicated centres is advisable.