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Bochdalek Hernia

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Last Update: August 11, 2024.

Continuing Education Activity

Bochdalek hernia is a developmental defect in the posterolateral diaphragm that permits herniation of abdominal contents into the thorax, resulting in mechanical compression of the developing lung parenchyma and potentially causing lung hypoplasia. This condition is the most common form of congenital diaphragmatic hernia (CDH) and typically presents with respiratory symptoms in the pediatric age group. However, symptomatic cases in adults are rare and often diagnosed incidentally during imaging studies. The exact etiology of Bochdalek hernia remains uncertain, though environmental and genetic factors are implicated. The primary treatment is surgical repair of the diaphragmatic defect, which can be performed through various approaches, including open surgery, laparoscopy, thoracoscopy, and robotic methods.

This educational activity equips healthcare professionals with comprehensive knowledge of the pathophysiology, relevant anatomy, and management strategies for Bochdalek hernia. Participants learn the importance of early identification and resuscitation in neonates, and the unique challenges presented by adult cases. The course underscores the critical role of an interprofessional team in providing optimal care and reducing long-term morbidity. By collaborating with surgeons, pediatricians, pulmonologists, radiologists, and other healthcare professionals, clinicians can ensure a thorough evaluation, effective surgical intervention, and ongoing surveillance for chronic conditions associated with Bochdalek hernia and CDH, ultimately enhancing patient outcomes.

Objectives:

  • Identify the clinical signs and symptoms of Bochdalek hernia in adults and children to ensure prompt diagnosis.
  • Implement early resuscitation and stabilization protocols for neonates diagnosed with Bochdalek hernia to improve immediate outcomes.
  • Apply best practices in surgical repair techniques, including open surgery, laparoscopic repair, thoracoscopic approach, and robotic transthoracic methods.
  • Communicate the importance of a cohesive, interprofessional team approach to diagnosing, resuscitating, and managing patients with Bochdalek hernia.
Access free multiple choice questions on this topic.

Introduction

Bochdalek hernia is a developmental defect in the posterolateral diaphragm that permits herniation of abdominal contents into the thorax, resulting in mechanical compression of the developing lung parenchyma and potentially causing lung hypoplasia. This condition is the most common form of congenital diaphragmatic hernia (CDH) and typically presents with respiratory symptoms in the pediatric age group. However, symptomatic adult cases are rare and often diagnosed incidentally during imaging studies. The exact etiology of Bochdalek hernia remains uncertain, though environmental and genetic factors are implicated. The primary treatment is surgical repair of the diaphragmatic defect, which can be performed through various approaches, including open surgery, laparoscopy, thoracoscopy, and robotic methods.

This educational activity equips healthcare professionals with comprehensive knowledge of the pathophysiology, relevant anatomy, and management strategies for Bochdalek hernia. Participants learn the importance of early identification and resuscitation in neonates, and the unique challenges presented by adult cases. The course underscores the critical role of an interprofessional team in providing optimal care and reducing long-term morbidity. By collaborating with surgeons, pediatricians, pulmonologists, radiologists, and other healthcare professionals, clinicians can ensure a thorough evaluation, effective surgical intervention, and ongoing surveillance for chronic conditions associated with Bochdalek hernia and CDH, ultimately enhancing patient outcomes.

Etiology

Environmental and genetic factors have been postulated to contribute to the etiology of a Bochdalek hernia. An estimated 30% of CDHs are attributable to genetic causes, such as chromosomal anomalies, copy number, and sequence variants. The aforementioned affected genes discovered include multiple transcription factors and the retinoic acid pathway. Most appear to have pleiotropic effects and variable penetrance, causing a range of phenotypes. As expected, a developmental anomaly in 1 organ often correlates with developmental anomalies elsewhere, and Bochdalek hernias are no exception. Multisystem genetic syndromes and associations, such as pulmonary and cardiac defects, are identified.[1]

Epidemiology

CDH is a congenital anomaly of the diaphragm with an incidence of approximately 1 in 2000 to 1 in 3000 births. Of those, roughly 70% to 75% are posterolateral defects and, thus, are characterized as Bochdalek hernias.[2] In a population-based cohort study of statewide diagnoses of CDHs in Utah, CDH occurred in 1 in 3156 births. There is a predilection in men with a man-to-woman ratio of 1.72 to 1. Of these, 64% of the cases were isolated, 23% were multiples (additional unrelated major malformations or unique minor malformations), and 13% were syndromic.[3] Symptomatic Bochdalek hernias in adults are relatively rare, with most cases found incidentally.[4][5] The overall incidence of adults with asymptomatic Bochdalek hernias has been estimated to be as low as 0.17% and as high as 6%.[6] However, there is a school of thought that some of these were hernias acquired during adulthood.[7][8]

Pathophysiology

The pathophysiology of Bochdalek hernias and CDHs, in general, is poorly understood. A Bochdalek hernia is congenital due to a developmental defect in the diaphragm formation. At approximately 4 weeks of gestation in humans, the diaphragm forms from several infoldings. Anteriorly, the central tendon is proposed to form from the septum transversum; posterolateral infoldings form the pleuroperitoneal membranes. The pleuroperitoneal canal, in turn, communicates between the pleural and peritoneal cavities via the foramen of Bochdalek at the posterior aspect of the developing diaphragm. This communication usually closes around week 8 of gestation.[9] Failure to do so results in a characteristic defect. Since the right canal closes before the left canal, most Bochdalek hernias (85%) are left-sided.[10]

Herniation of abdominal contents into the thoracic cavity can interfere with the normal development of the lungs; this can result in a varying degree of pulmonary hypoplasia and persistent pulmonary hypertension (PPH).[9] Thus, most symptomatic Bochdalek hernias are diagnosed at a younger age in children with respiratory symptoms. Presentation of Bochdalek hernia in adulthood is relatively rare and is typically manifested as gastrointestinal symptoms related to the herniated organ.[7] 

History and Physical

Bochdalek hernias tend to present differently in pediatric and adult age groups. In the pediatric age group, the presentation often includes respiratory symptoms from lung hypoplasia after mechanical compression of developing lung parenchyma in utero. In contrast, Bochdalek hernias in adults are usually asymptomatic and incidentally found. Symptoms in adults often manifest as vague or nonspecific gastrointestinal complaints.[7] [10] During the physical exam, findings could include auscultation of bowel sounds in the chest. More severe cases could show a scaphoid abdomen, as bowel contents herniate into the thorax.

A recent meta-analysis of 173 articles met the predefined inclusion criteria, encompassing 192 patients (50.5% men) with an average age of 45.41 ± 20.26 years. The predominant symptoms were abdominal pain (62.0%) and pulmonary issues (41.1%). The hernias most commonly protruded through the left side of the diaphragm (70.7%), with the large intestine (42.7%) and stomach (37.1%) being the most frequently herniated organs. The majority of patients (53.8%) underwent an open surgical procedure, with the abdominal approach being preferred (64.8%) over the thoracic approach. Postoperative complications within 30 days occurred in 21.5% of patients, and the 30-day mortality rate was 4.4%.[11]

Evaluation

Ultrasonography, plain film chest radiography, and thin section computed tomography (CT) with multiplanar reformats all play a role in diagnosing a Bochdalek hernia. Recently, magnetic resonance imaging (MRI) studies have also been used to evaluate these pathologies. A CDH is the most commonly reported indication for thoracic prenatal MRI.[12] Antenatal ultrasounds can demonstrate features that suggest CDHs, such as intrathoracic stomach bubble and mediastinal shift away from the herniated viscera. Postnatally, ultrasonography can delineate the entire diaphragm, assess for discontinuity, and evaluate the viscera that has herniated.[10] In plain film radiography, Bochdalek hernias are diagnosable by assessing for gas-filled loops of the bowel or a soft tissue mass above the level of the diaphragm. However, plain film chest radiography sensitivity is low, and CDHs can be confused with other thoracic pathology.

As such, thin-section CT with multiplanar reformats has become the industry standard for diagnosis due to increased sensitivity and ability to evaluate associated congenital anomalies. On CT of the chest, one can more accurately assess for focal defects in the diaphragm. CT was reported to have sensitivities of 78% for left-sided hernias and 50% for right-sided hernias.[13] 

Treatment / Management

Katsaros et al highlights the critical need for timely surgical intervention in patients with Bochdalek hernia to prevent life-threatening complications. In adults, these hernias can go undetected and become surgical emergencies if abdominal organs become strangulated, resulting in conditions like intestinal obstruction or gastric volvulus. Surgical repair is the only effective treatment for Bochdalek hernia in adults, preventing long-term complications and improving quality of life. Experienced surgeons often prefer a laparoscopic approach due to its minimal invasiveness and quicker recovery time.[11][14] 

Antenatally, expected management and surveillance for complications is the standard of care. Sometimes, in severe herniation, fetoscopic endoluminal tracheal occlusion (FETO) therapy can be considered. This procedure temporarily blocks the trachea, and preliminary research suggests it improves lung development. Postnatally, management of hypoplastic lung tissue and maldevelopment takes precedence; this includes gentle ventilation, high-frequency oscillatory ventilation (HFOV), and extracorporeal membrane oxygenation (ECMO) therapies. PPH is also a sequela of CDH and mechanical compression of the lung during development. Treatment of PPH is usually inhaled nitric oxide and sildenafil.[2]

Differential Diagnosis

CDHs, such as Bochdalek hernias, are the most commonly reported anomaly of the diaphragm detected in utero. However, there are other diagnostic considerations, such as congenital diaphragmatic eventration, diaphragmatic paralysis, and extralobar pulmonary sequestration, which are detectable during pregnancy. Congenital diaphragmatic eventration is considered secondary to defective development of the diaphragmatic musculature with subsequent focal thinning. On the other hand, extralobar pulmonary sequestration is lung parenchyma with a separate pleural and vascular supply.[12] Diaphragmatic rupture or other sources of acquired diaphragmatic hernia should be considered in adults.

Prognosis

Overall survival rates vary across the literature, with most population-based studies suggesting an overall mortality rate between 42% and 68%.[2] However, single-institution studies suggest a survival rate of upwards of 90%.[15] This difference in survival rates is sometimes attributed to 'hidden mortality,' which considers the intrauterine deaths before arrival at the reporting institution. Some research suggests there has been an overall increase in patient survival. This is thought secondary to advances in critical care.[16] 

Complications

As mentioned, survivors with a Bochdalek hernia and CDH often demonstrate pulmonary symptoms with chronic lung disease but also gastroesophageal reflux disease (GERD), chest wall deformity, poor growth, and hernia recurrence. A high incidence of chronic lung disease is demonstrated in CDH survivors, which includes PPH and pulmonary hypoplasia, the latter of which can cause a restrictive lung defect; also, there is a high oxygen concentration requirement and subsequent ventilator-induced injury and even bronchopulmonary dysplasia in these patients. Other pulmonary morbidities include reactive airway disease, reduced airway disease, and recurrent lung infections. Many of these patients demonstrate improved pulmonary function to near normal in adulthood, though some adult survivors show persistent impairment on pulmonary function testing.[16]

Neurodevelopmental deficits may also occur in CDH survivors, which include, but are not limited to, neuropathological lesions (such as periventricular leukomalacia), cognitive and motor dysfunction, and emotional or behavioral problems. GERD and failure to thrive are the most common gastrointestinal impairment at approximately 50% to 100% and 50% to 60%, respectively. Musculoskeletal abnormalities such as pectus deformities and scoliosis have associations with CDH. Hernia recurrence has also been reported, with an increased defect size correlating with an increased risk for recurrence. The recurrence rate for patch repairs is estimated at 27% to 41% compared to 4% to 13% for primary repairs.[16]

Deterrence and Patient Education

Approximately 30% to 50% of CDH survivors are healthy, symptom-free, and without limitation. Most adult patient survivors are asymptomatic and require no intervention.[17] Most patients who are symptomatic obtain their diagnosis at a young age and, increasingly, antenatally. Increased attention and continued surveillance in utero are now possible. Vigilance on screening and birth at a tertiary care center is essential to ensure the appropriate support is provided.

Multiple comorbidities have been identified, and long-term follow-up is necessary as the population of CDH survivors grows. As such, it is vital to educate patients not only on the symptoms associated with Bochdalek hernia and subsequent repair but also on the sequelae.[16] Discussion of the surgical treatments, outcomes, and chronic health conditions associated with Bochdalek hernia is paramount in allowing patients and families to make informed decisions regarding treatment and management.

Enhancing Healthcare Team Outcomes

The diagnosis, treatment, and management of Bochdalek hernia require an interprofessional team approach involving the coordination of care between obstetricians, pediatricians, primary care physicians, radiologists, thoracic surgeons, advanced practitioners, specialty-trained nurses, pharmacists, and other healthcare professionals. The care and monitoring of these patients are often done by intensive care unit nurses who work with the team to evaluate the progression of improvement and identify untoward changes as quickly as possible. The nurse should also assist with educating the family and keeping them apprised of the patient's condition. If the patient has a severe diaphragmatic defect, appropriate planning at a tertiary care facility is necessary to facilitate early intervention and support. Appropriate surveillance, follow-up, and post-surgical care are imperative for managing this condition. An interprofessional team approach will provide high-quality, patient-centered care, leading to better outcomes and enhanced safety for patients with Bochdalek hernia.

Review Questions

References

1.
Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L, Bogenschutz E, Sun X, Chung WK. Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech. 2017 Aug 01;10(8):955-970. [PMC free article: PMC5560060] [PubMed: 28768736]
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Leeuwen L, Fitzgerald DA. Congenital diaphragmatic hernia. J Paediatr Child Health. 2014 Sep;50(9):667-73. [PubMed: 24528549]
3.
Shanmugam H, Brunelli L, Botto LD, Krikov S, Feldkamp ML. Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. Birth Defects Res. 2017 Nov 01;109(18):1451-1459. [PubMed: 28925604]
4.
Farwati R, Ghedda SA, Aboudan R, Ataya J, Abdulhakim H. Bochdalek's hernia in adults: A unique case with gastric volvulus and intrathoracic kidney. Int J Surg Case Rep. 2024 Aug;121:110006. [PMC free article: PMC11277729] [PubMed: 38972105]
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Taheriniya A, Maghsoudi MR, Chaghamirzayi P. Incidental discovery of a giant congenital diaphragmatic hernia in an adult: A case report and literature review. Int J Surg Case Rep. 2024 Aug;121:109969. [PMC free article: PMC11261402] [PubMed: 38943942]
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Granados Flores AA, Arriola Rios DI, Gonzalez Soto JR. Incarcerated Bochdalek Hernia in Adults. Cureus. 2024 May;16(5):e61422. [PMC free article: PMC11214721] [PubMed: 38947577]
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Gale ME. Bochdalek hernia: prevalence and CT characteristics. Radiology. 1985 Aug;156(2):449-52. [PubMed: 4011909]
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Katsaros I, Giannopoulos S, Katelani S, Vailas M, Sotiropoulou M, Papaconstantinou D, Giannakodimos I, Kapetanakis EI, Tomos P, Schizas D. Bochdalek hernias in the adult population: a systematic review of the literature. ANZ J Surg. 2022 Sep;92(9):2037-2042. [PubMed: 35357073]
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Alamo L, Gudinchet F, Meuli R. Imaging findings in fetal diaphragmatic abnormalities. Pediatr Radiol. 2015 Dec;45(13):1887-900. [PubMed: 26255159]
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Killeen KL, Mirvis SE, Shanmuganathan K. Helical CT of diaphragmatic rupture caused by blunt trauma. AJR Am J Roentgenol. 1999 Dec;173(6):1611-6. [PubMed: 10584809]
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Clifton MS, Wulkan ML. Congenital Diaphragmatic Hernia and Diaphragmatic Eventration. Clin Perinatol. 2017 Dec;44(4):773-779. [PubMed: 29127959]
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Wigen RB, Duan W, Moraes TJ, Chiu PPL. Predictors of Long-Term Pulmonary Morbidity in Children with Congenital Diaphragmatic Hernia. Eur J Pediatr Surg. 2019 Feb;29(1):120-124. [PubMed: 30583297]
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Hollinger LE, Harting MT, Lally KP. Long-term follow-up of congenital diaphragmatic hernia. Semin Pediatr Surg. 2017 Jun;26(3):178-184. [PubMed: 28641757]
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Bridges CJ, Hasson RM. Congenital Hernias in Adults: Bochdalek Hernias. Thorac Surg Clin. 2024 May;34(2):155-162. [PubMed: 38705663]

Disclosure: Racine Gue declares no relevant financial relationships with ineligible companies.

Disclosure: Sanjeev Sharma declares no relevant financial relationships with ineligible companies.

Disclosure: Lana Winkler declares no relevant financial relationships with ineligible companies.

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