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Bochdalek hernia
Bochdalek hernia
Bochdalek hernia
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Bochdalek hernia
"Bochdalek", at lumbocostal triangle, labeled in bottom left (Captions in German.)
SpecialtyThoracic surgery
Differential diagnosisDiaphragmatic rupture[1]
FrequencyRare[2]

Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to enter into the thoracic cavity. In the majority of people, the affected lung will be deformed,[3] and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus the right side 15%).

Bochdalek hernias are rare.[2] This type of hernia was first described in 1754 by McCauley and subsequently studied and named after the Czech pathologist Vincenz Alexander Bochdalek (1801–1883).[2]

Signs and symptoms

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Children

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In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby's birth. A few of the symptoms of Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. If the baby appears to have cyanosis (blue-tinted skin) this can also be a sign.[4] Another way to identify a baby with Bochdalek hernia is to look at the chest immediately after birth. If the baby has a Bochdalek hernia it may appear that one side of the chest cavity is larger than the other and/or the abdomen seems to be caved in.[5]

Adults

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Symptoms rarely develop in adults.[1] If symptoms do occur, they may be vague and related to the gastrointestinal tract.[1] This may include pain or signs of a bowel obstruction.[2]

Causes

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Most likely, Bochdalek hernias are formed throughout the growth process and organ construction during fetal development. During fetal development, the diaphragm is formed between the seventh and tenth week. Also, during this time, the esophagus, stomach, and intestines are formed. Therefore, a Bochdalek hernia forms either from malformation of the diaphragm, or the intestines become locked into the chest cavity during the construction of the diaphragm. Although these are some factors that contribute to a Bochdalek hernia, it does not take all variables into account. Bochdalek hernias, along with Morgagni hernias, are both multifactor conditions, meaning that there are many reasons and multiple variables that contribute to the malformations. For example, in each case, there could be genetic and or environmental condition(s) that can add to the probability of this birth defect.[5]

Diagnosis

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Treatment

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Children

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There are different pathways for treatment available. The first step in treatment includes the baby's admission into the NICU (Neonatal Intensive Care Unit).[5] The preferred path of treatment for most Bochdalek Hernia is that babies who are admitted in the NICU, are placed on a mechanical ventilator to help breathing. Very rarely will the hernia be small enough that it is not noticed. It is more likely to be asymptomatic if it is on the right side of the chest. If the infant cannot be stabilized using medical treatments and mechanical ventilation, the alternate pathway involves putting the infants on a temporary heart/lung bypass machine, called ECMO, which stands for extra-corporeal membrane oxygenation.[5] ECMO allows oxygen to be regulated into the blood and then pumps the blood throughout the entire body. Normally, this machine is used to stabilize the baby's condition. It is preferred to stabilize the infant prior to surgery, to minimize complications, if possible. The only treatment is surgery.[6]

After the baby is stable and his or her state has improved, the diaphragm can be fixed and the misplaced organs can be relocated to their correct position. That is either done via primary repair where the remaining diaphragm is stretched to cover the hole, or an abdominal muscle is split so it can be used to stretch over the hole, and the last option is with a Gore-Tex patch, which has higher risks of later infection or re-herniation.[5] Although these are various treatments for Bochdalek Hernias, it does not guarantee the baby will survive.[5] Since the baby must go through some or all of the previous treatments, the baby's hospital stay is usually longer than that of a "normal" newborn. The average infants born with a Bochdalek Hernia stay in the hospital between 23.1 and 26.8 days.[7]

Adults

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If the disorder is diagnosed in an adult and they remain without symptoms no specific treatment is required.[1] In those who are symptomatic surgery may be carried out by an open or closed approach.[2]

Prognosis

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Bochdalek hernia can be a life-threatening condition. Approximately 85.3% of newborns born with a Bochdalek hernia are immediately high risk.[8] Infants born with a Bochdalek hernia have a "high mortality rate due to respiratory insufficiency".[9] Between 25 and 60% of infants with a Bochdalek hernia die.[7] The lungs, diaphragm, and digestive system are all forming at the same time, so when a Bochdalek hernia permits the abdominal organs to invade the chest cavity rather than remain under the diaphragm in the correct position, it puts the infant in critical condition. These "foreign bodies" in the chest cavity compress the lungs, impairing their proper development and causing pulmonary hypoplasia.[5] Since the lungs of infants suffering from a Bochdalek hernia have fewer alveoli than normal lungs, Bochdalek hernias are life-threatening conditions due to respiratory distress.[5]

More individualized prognosis for infants depends on several factors, including where the infant is born, the amount of herniation into the thoracic cavity, whether the liver is in the thorax as well, and other malformations including heart defects.[10]

  • Some institutions use a ratio called the Lung to Head Ratio (LHR) which is calculated by measuring the size of the infant's head, comparing it to the size of the observed volume of lung. An LHR >1.0 is associated with higher survival.[11][12][13]
  • Other institutions use the Observed to Expected LHR (O/E LHR), which compares the expected ratio of size of the lungs for the fetus's gestation and other measurements, in comparison to what the observed ratio of size is for their lungs/head.[11][12] When using the O/E LHR, the mildest form is >35%, signifying less difference between observed to expected. Moderate is considered 25-35%, and severe is <25%.[12][14]

For best outcomes, the fetus should be diagnosed prenatally and delivered at a tertiary hospital with ECMO capabilities.[14] Different centers manage differently and have different outcomes. Some families temporarily relocate to be at the CDH surgical center of choice.

Epidemiology

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Bochdalek hernias make up about 0.17% to 6% of all diaphragmatic hernia cases when they appear spontaneously in adults and about one in every 2200 to 12,500 births every year.[4] Babies who are born with a Bochdalek hernia are more than likely to have another birth defect caused by the hernia. About twenty percent of those children born with a Bochdalek hernia, also have a congenital heart defect. In addition, infants born with this condition may also have other abnormalities. "Between five and sixteen [percent of infants] have a chromosomal abnormality."[5] In most cases, left-sided hernias or Bochdalek hernias have a ratio of 3:2 of males to females. In other words, Bochdalek hernias are more common in men.

Mnemonic

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A useful way to remember the localization of this hernia vs. Morgagni is "Bochdalek is back and to the left" (re the postero-lateral localization).

References

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Bochdalek hernia

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from Grokipedia
A Bochdalek hernia, named after Czech anatomist Vincent Bochdalek who first described it in 1848, is a congenital developmental defect in the posterolateral portion of the diaphragm, resulting from the failure of the pleuroperitoneal folds to fuse properly during embryonic development around the eighth week of gestation, which permits abdominal viscera such as the intestines, , , or liver to herniate into the and compress the developing lungs. This condition, the most prevalent form of congenital (CDH), accounts for 80-90% of all CDH cases and occurs in approximately 1 in 2,500 to 3,000 live births, with a left-sided predominance in about 85% of instances due to the protective effect of the liver on the right side. The etiology of Bochdalek hernia involves a combination of genetic and environmental factors, with roughly 30% of cases associated with chromosomal anomalies, single-gene mutations (such as those in the signaling pathway), or syndromic conditions like Fryns syndrome, while the majority appear sporadic and isolated. Pathophysiologically, the herniation leads to from reduced lung space and compression, often compounded by persistent pulmonary hypertension of the newborn (PPHN) due to abnormal pulmonary vascular development. In neonates, who represent the majority of symptomatic presentations, clinical manifestations typically emerge shortly after birth and include severe respiratory distress, , , scaphoid , and bowel sounds audible in the chest, potentially mimicking other causes of neonatal . Although rare, delayed presentation in children or adults can occur asymptomatically or with gastrointestinal symptoms like , , or incarceration, with an estimated prevalence of asymptomatic Bochdalek hernias in adults ranging from 0.17% to 6%. Diagnosis is often prenatal via fetal ultrasound or , which can detect the hernia and assess volume through metrics like the observed-to-expected -to-head ratio, or postnatal through chest showing mediastinal shift and absent diaphragmatic outline, with computed providing confirmatory detail if needed. Initial management in symptomatic neonates focuses on stabilizing respiratory and hemodynamic status with , sedation, and possibly (ECMO) for severe PPHN, alongside treatments like inhaled or to improve pulmonary . Definitive treatment involves surgical repair, typically performed after stabilization—via , , or minimally invasive /—to reduce the herniated contents and close the defect with sutures or a synthetic patch, with timing varying from immediate in stable neonates to elective in asymptomatic cases. Prognosis has improved significantly with advances in neonatal intensive care; as of 2025, survival rates are 70-90% in specialized centers, with overall population-based survival around 70-85%, though severity of and associated anomalies affect outcomes; long-term complications in survivors may include chronic lung disease, gastroesophageal reflux (affecting 50-100%), neurodevelopmental delays, and hernia recurrence rates of 4-41% depending on the repair method.

Background

Definition

A Bochdalek hernia is a congenital defect characterized by a posterolateral opening in the diaphragm that permits abdominal organs, such as the intestines, , , or liver, to protrude into the . This condition arises from incomplete closure of the pleuroperitoneal folds during fetal development, resulting in a communication between the abdominal and thoracic compartments. As the most prevalent form of congenital diaphragmatic hernia (CDH), Bochdalek hernia constitutes approximately 80-90% of all CDH cases. It predominantly affects the left side in about 85% of neonatal instances, owing to the protective role of the liver on the right and the differential closure rates of the pleuroperitoneal canals. In contrast to other CDH variants, such as the anterior Morgagni hernia, which accounts for only about 2% of cases and typically presents with milder symptoms, the Bochdalek type is located posterolaterally and carries a higher risk of severe complications due to its location and frequency. The herniation of abdominal contents into the compresses the developing lungs, leading to —underdeveloped lungs with reduced airway branching and vascularization—and potentially causing shortly after birth. This immediate impact underscores the condition's life-threatening nature in the neonatal period, though the diaphragm's overall structure remains otherwise intact.

History

The first anatomical description of what is now known as Bochdalek hernia—a posterolateral congenital diaphragmatic defect—was provided in 1848 by Czech anatomist Vincenz Alexander Bochdalek, who detailed its association with herniation of abdominal contents into the , often leading to neonatal death. This work built upon earlier 18th-century observations of diaphragmatic defects, including a 1754 report by George Macaulay describing a congenital identified at in a newborn. Prior to Bochdalek, such defects were sporadically noted in postmortem examinations dating back to the , but lacked specific characterization of the posterolateral location. In the , Bochdalek hernias were recognized primarily through rare findings, with case reports highlighting unilateral diaphragmatic defects in who succumbed shortly after birth, such as a by Dittel. By the early , the condition gained broader clinical attention as a significant contributor to neonatal mortality, accounting for a notable proportion of respiratory distress cases in newborns due to and herniated viscera. Key surgical milestones included the first successful repair in an in 1902 and the initial operation on a neonate within 24 hours of life in 1946, marking the shift toward operative intervention rather than solely diagnostic autopsies. Advancements accelerated in the late with the first prenatal diagnosis of congenital in 1977, followed by refinements in the through animal models that informed fetal development and surgical timing. Post-2000, survival rates improved markedly, rising from historical lows of around 50% to over 70% in specialized centers, driven by (ECMO) for refractory and emerging fetal interventions like tracheal occlusion. Recent developments from 2023 to 2025 have focused on genetic underpinnings of CDH, with studies identifying rare variants in genes such as NR2F2 associated with Bochdalek hernia risk and common variants at novel loci through genome-wide association studies. Concurrently, minimally invasive techniques, including laparoscopic and robot-assisted repairs, have gained traction for presentations, demonstrating reduced morbidity in case series of symptomatic hernias.

Anatomy

Diaphragm Structure

The diaphragm is a dome-shaped musculotendinous structure that forms the primary partition between the thoracic and abdominal cavities, facilitating respiration by contracting to increase thoracic volume during inspiration. It comprises a central aponeurotic surrounded by peripheral fibers, which originate from four key embryologic components: the contributing to the central and anteromedial portions, the pleuroperitoneal folds forming the dorsolateral aspects, the body wall providing muscular contributions from the lateral chest wall, and the esophageal mesentery adding to the crural regions posteriorly. In normal anatomy, the posterolateral region of the diaphragm, referred to as the lumbocostal trigone, lies between the attachments to the 8th through 10th ribs posteriorly and the vertebral column, consisting of a thin fibrous that lacks dense muscularization but remains intact to prevent herniation. This area marks the junction between the costal and parts of the diaphragm, positioned adjacent to the lateral arcuate ligament. Embryologically, the diaphragm develops progressively during early gestation, with the pleuroperitoneal folds extending to fuse with the and other components by the end of the 8th week, thereby closing the pericardioperitoneal canals and establishing a complete barrier between the pleural and peritoneal spaces. Failure in this fusion process can lead to vulnerabilities in the posterolateral diaphragm, though normal closure ensures structural integrity. To recall the typical posterolateral and left-sided location of potential defects in this region, a common mnemonic is "Bochdalek is back and to the left," emphasizing the predominance on the left side due to the protective role of the liver on the right during development.

Defect Characteristics

The Bochdalek hernia manifests as a congenital defect in the posterolateral portion of the diaphragm, specifically involving the lumbocostal trigone or the junction between the pars lumbaris and pars costalis. This opening allows herniation of abdominal contents into the , with the left side affected in approximately 85% of cases due to the protective role of the liver on the right, which limits expansion of the right pleuroperitoneal canal during embryogenesis. The defect size varies but is typically several centimeters in diameter in symptomatic cases, enabling protrusion of structures such as small bowel loops, the , or the on the left side. Right-sided Bochdalek hernias occur in about 15% of cases and often involve herniation of the liver or other hepatic tissue, potentially leading to a more solid-appearing intrathoracic mass on . Bilateral defects are rare, comprising less than 2% of instances, and are associated with more severe . At the site of the defect, there is often complete absence or significant thinning of the diaphragmatic musculature, consisting primarily of a thin pleural or peritoneal rather than functional muscle tissue. Smaller defects may remain clinically silent for years, allowing delayed presentation in adulthood due to gradual herniation or enlargement from increased intra-abdominal pressure. Characteristic imaging features on plain chest radiography include the absence of the normal diaphragmatic outline, visualization of gas-filled bowel loops within the hemithorax, and mediastinal shift toward the contralateral side, which helps differentiate it from other thoracic pathologies. In right-sided cases, the findings may appear as an elevated hemidiaphragm with a homogeneous opacity if liver is herniated, potentially mimicking eventration or tumor.

Pathophysiology and Etiology

Embryological Development

The diaphragm begins to form during the fourth week of as the embryo's mesodermal components differentiate to partition the coelomic cavity into distinct thoracic and abdominal regions. Key structures involved include the , which arises from splanchnic mesoderm and forms the central tendon and anteromedial portion; the pleuroperitoneal folds (PPFs), derived from the lateral body wall ; the dorsal mesentery of the ; and from the body wall. These elements coalesce between weeks 4 and 12, with the PPFs playing a critical role by migrating dorsolaterally from their initial position near the cervical somites. By weeks 6 to 8, the PPFs elongate and fuse with the ventrally, the dorsal esophageal medially, and the body wall laterally, effectively closing the pericardioperitoneal canals and separating the pleural and peritoneal cavities. This fusion process is completed by around week 12, establishing the mature diaphragmatic architecture. Muscle progenitors from cervical somites (C3-C5) migrate into the developing membrane during this period, differentiating into myofibers to confer contractility. Bochdalek hernia arises from a in this embryological process, specifically incomplete fusion of the PPFs around weeks 7 to 10, which leaves a persistent communication between the abdominal and thoracic cavities. The defect is typically located in the posterolateral aspect of the diaphragm, corresponding to the site of the embryonic pleuroperitoneal canal. This results in early herniation of abdominal contents, such as loops returning to the from the around week 10, into the thoracic space. The intrusion compresses the developing buds, disrupting bronchial branching and impairing alveolar septation and vascularization. Insights into these developmental failures have been gained from animal models, particularly the nitrofen-induced rat model of congenital diaphragmatic hernia, where administration of nitrofen to pregnant dams on gestational day 9.5 disrupts PPF proliferation and fusion, producing posterolateral defects analogous to human Bochdalek hernia. In these rats, the model recapitulates the timeline of diaphragmatic maldevelopment, with persistent canals evident by embryonic day 14-16, leading to herniation and secondary lung hypoplasia prior to birth.

Risk Factors and Mechanisms

Bochdalek hernia, the most common form of congenital diaphragmatic hernia (CDH), arises from a combination of genetic and environmental factors that disrupt normal diaphragmatic development during embryogenesis. Genetic predispositions include mutations in key developmental genes such as GATA4, located on chromosome 8p23.1, which are implicated in 3-5% of CDH cases and lead to defects in diaphragm and cardiac formation through impaired mesenchymal signaling. Similarly, variants in NR2F2 (COUP-TFII) on 15q26.1 contribute to 1-2% of cases, as evidenced by mouse models where knockout results in posterolateral diaphragmatic defects akin to Bochdalek hernia. Chromosomal anomalies further elevate risk, with aneuploidies present in 10-35% of CDH patients; trisomy 18 occurs in approximately 2-5% of cases, while trisomy 21 is associated in up to 9% of syndromic presentations, often alongside other malformations. Environmental influences, particularly during early gestation, exacerbate these genetic vulnerabilities by interfering with signaling pathways critical for diaphragm pleuroperitoneal closure. Maternal nutritional deficiencies, such as low intake below 800 µg/day, increase CDH risk with an of 7.2, as is essential for regulating in mesenchymal cells. Exposure to teratogens like nitrofen, a modeling environmental nitrosamines, inhibits retinaldehyde dehydrogenase 2 (RALDH2), reducing synthesis and inducing CDH in up to 60% of offspring, an effect mitigated by supplementation. Excess or related compounds, such as those from high-dose , can also disrupt signaling, though deficiency predominates in human epidemiological data. These factors align with the retinoid hypothesis, positing that altered underlies many Bochdalek hernia cases. The pathophysiological mechanisms involve a cascade triggered by the diaphragmatic defect, leading to herniation of abdominal contents into the and secondary pulmonary complications. This herniation compresses developing lungs, resulting in characterized by reduced lung volume and impaired alveolarization due to mechanical obstruction of fetal breathing movements. deficiency emerges as a consequence, with decreased production of surfactant proteins A, B, and C in affected lungs, contributing to alveolar collapse and respiratory distress, as observed in both animal models and human neonates with CDH. Herniation also promotes persistent pulmonary hypertension of the newborn (PPHN) through vascular remodeling, including decreased arterial branching, muscularization of arterioles, and elevated , which sustains right-to-left shunting and . The elucidates this process, proposing a primary insult—a genetic or environmental disruption causing the diaphragmatic defect, often linked to failed pleuroperitoneal canal fusion—and a secondary hit affecting bilateral development prior to herniation. In nitrofen-induced models, the first hit impairs early branching and epithelial differentiation, while the second hit exacerbates ipsilateral post-herniation, explaining the observed bilateral yet asymmetric underdevelopment in Bochdalek hernia. This multifactorial interplay underscores the condition's complexity, with outcomes dependent on the timing and severity of these hits.

Clinical Presentation

Neonatal and Pediatric Symptoms

Bochdalek hernia, the most common type of congenital diaphragmatic hernia, typically manifests in the neonatal period with acute respiratory distress shortly after birth, often within the first few hours. Newborns present with severe , grunting respirations, and due to and compression of the developing lungs by herniated abdominal contents. This respiratory compromise frequently results in low Apgar scores, reflecting immediate cardiorespiratory instability. Physical examination reveals characteristic findings, including a scaphoid from evisceration of abdominal viscera into the , a barrel-shaped chest due to lung hypoplasia, and decreased breath sounds on the affected side, most commonly the left. may disclose bowel sounds in the chest or , with the cardiac apex shifted to the right in left-sided defects. Gastrointestinal symptoms in neonates include and feeding intolerance, arising from mechanical obstruction or compression of the and intestines by the . In delayed presentations, which occur in 5-25% of cases beyond the neonatal period, infants and children may exhibit recurrent from chronic aspiration or lung compression, as well as due to persistent feeding difficulties and respiratory burden. These late-onset symptoms can mimic conditions such as , , or recurrent respiratory infections, often leading to diagnostic delays. contributes to these ongoing respiratory challenges in affected children.

Adult Symptoms

Bochdalek hernias in adults are rare and frequently remain asymptomatic throughout life, often discovered incidentally during imaging for unrelated conditions. The prevalence of such incidental findings is approximately 0.17% in large cohorts undergoing abdominal CT scans, with small right-sided hernias being the most common variant due to their tendency to contain only retroperitoneal fat or minimal abdominal contents. studies similarly report an incidence of approximately 1 in 2,000 to 7,000 (0.014% to 0.05%), underscoring the condition's underdiagnosis in the living population. In symptomatic cases, which represent a minority, patients typically experience chronic gastrointestinal complaints such as (occurring in about 62% of presentations), dyspepsia, or due to partial herniation of organs like the or colon. Post-traumatic can also manifest as acute worsening of these symptoms following blunt injury, while respiratory issues like dyspnea are uncommon unless incarceration leads to compromised organ perfusion. These presentations often mimic other abdominal or thoracic pathologies, delaying recognition. Triggers for symptom onset in adults commonly involve factors that elevate intra-abdominal pressure, including , physical trauma, or , which can promote progressive herniation of abdominal contents through the persistent congenital defect. Unlike in neonates, where acute respiratory distress predominates due to , adult cases exhibit slower progression with gradual organ displacement, leading to lower overall mortality but a notable of life-threatening strangulation.

Diagnosis

Prenatal Methods

Prenatal of Bochdalek hernia, a type of congenital (CDH), primarily relies on imaging techniques during routine fetal anomaly scans. screening, typically performed between 18 and 20 weeks of gestation, is the initial and most common method for detection. Key sonographic findings include the visualization of abdominal contents such as the or bowel loops in the , often accompanied by a mediastinal shift toward the contralateral side and due to impaired swallowing from gastrointestinal compression. These features arise from the posterolateral diaphragmatic defect characteristic of Bochdalek hernia, allowing herniation of abdominal viscera into the chest cavity. The accuracy of prenatal is high, with over half of CDH cases, including Bochdalek types, suspected during this routine scan. To further assess severity, metrics such as the observed-to-expected -to-head ratio (O/E LHR) are calculated by measuring the contralateral area at the level of the four-chamber heart view divided by the expected value based on head circumference and . An O/E LHR less than 25% is associated with severe and poor postnatal prognosis. Additionally, evaluation of the helps identify , reported in 30-75% of cases depending on the study and correlates with worse outcomes due to esophageal compression. If initial suggests Bochdalek hernia, fetal (MRI) is recommended for more precise evaluation, particularly of lung volumes. MRI quantifies the observed-to-expected total fetal volume (O/E TFLV), where values below 25% signify severe and predict high mortality risk. Genetic testing via amniocentesis is often performed when CDH is suspected to identify associated chromosomal anomalies or syndromes, which occur in up to 30% of cases. This invasive procedure, typically conducted after 15 weeks, involves sampling amniotic fluid for karyotyping, microarray analysis, or targeted gene sequencing to detect conditions like trisomy 18 or Fryns syndrome. Such testing is crucial for counseling on prognosis, as isolated Bochdalek hernias have better outcomes than those with genetic comorbidities.

Postnatal Methods

Postnatal diagnosis of Bochdalek hernia is prompted by clinical signs such as respiratory distress or in neonates and is confirmed through a stepwise approach to identify the diaphragmatic defect and herniated contents. The initial study is a , which often demonstrates characteristic findings including gas-filled bowel loops projecting into the , an elevated hemidiaphragm, or a nasogastric tube coiled within the chest, indicating herniation of abdominal viscera. These radiographic signs have low sensitivity alone but guide further evaluation when correlated with clinical presentation. Confirmatory imaging typically involves computed tomography (CT) or magnetic resonance imaging () to precisely delineate the size and location of the diaphragmatic defect, as well as the nature and extent of herniated organs such as intestines or ; thin-section CT with multiplanar reformats achieves 78% sensitivity for left-sided hernias and 50% for right-sided ones. serves as a complementary dynamic tool, particularly useful for visualizing diaphragm discontinuity and assessing herniated viscera in real-time without radiation exposure. Echocardiography is routinely performed postnatally, ideally within 48 hours or upon suspicion of , to evaluate right ventricular function, pulmonic or , ductal shunting, and associated cardiac anomalies, which are present in approximately 22% of cases. In the differential diagnosis, features suggestive of diaphragmatic eventration or may necessitate additional contrast studies, such as an , to exclude these conditions by demonstrating the position and transit of gastrointestinal structures. If prenatal screening has raised suspicion, postnatal imaging provides definitive confirmation of the hernia.

Treatment

Initial Management

The initial management of Bochdalek hernia prioritizes rapid stabilization to address respiratory distress, , and potential gastrointestinal complications, particularly in neonates where the condition is most common. Management follows protocols from organizations like the Congenital Diaphragmatic Hernia Study Group, emphasizing gentle ventilation and selective ECMO use. In the delivery room, neonates with suspected Bochdalek hernia should avoid bag-mask ventilation to prevent gastric distension and further compression; instead, immediate endotracheal is recommended if respiratory distress is evident, followed by using low-pressure strategies. Ventilation employs permissive , targeting PaCO2 levels of 45-60 mmHg to minimize while maintaining adequate oxygenation, with peak inspiratory pressures limited to under 25 cm H2O and (PEEP) of 3-5 cm H2O. High-frequency oscillatory ventilation may be initiated if conventional modes fail to achieve sufficient recruitment. Supportive care focuses on decompression and hemodynamic support to optimize pulmonary function. A nasogastric (NG) tube is placed immediately post-delivery to decompress the and intestines, reducing intra-abdominal pressure that could exacerbate herniation and respiratory compromise. and are routinely used to facilitate tolerance of and reduce oxygen consumption. For neonates with refractory hypoxia due to persistent pulmonary hypertension of the newborn (PPHN) or severe , (ECMO) is considered, typically in 20-30% of severe cases, as a bridge to surgical repair when conventional therapies fail. Close monitoring is essential to guide interventions and detect complications. Serial gas analyses assess ventilation adequacy and acid-base status, while within the first 48 hours evaluates cardiac function and PPHN severity, informing the use of pulmonary vasodilators like inhaled . In cases of prenatal diagnosis, referral to specialized centers is advised for consideration of experimental interventions, such as fetoscopic endoluminal tracheal occlusion (FETO), which involves temporary balloon occlusion of the fetal trachea between 27-30 weeks to promote growth in severe left-sided cases; as of 2025, FETO remains investigational under FDA exemptions, with ongoing trials demonstrating improved rates compared to expectant management. Recent 2024-2025 studies, including multisite trials, report reduced need for ECMO and higher (up to 49% vs. 23% in severe cases) with FETO compared to expectant management. In adults, where Bochdalek hernia is rare and often or incidentally discovered, initial management is conservative unless acute symptoms like obstruction or incarceration occur. patients require ongoing monitoring with to track progression, avoiding unnecessary intervention due to surgical risks in older individuals. For symptomatic cases involving , NG tube suction for decompression and intravenous fluid are employed to stabilize the patient prior to definitive repair.

Surgical Approaches

Surgical repair of Bochdalek hernia is the definitive treatment, tailored to the patient's age, hernia size, and clinical stability following initial stabilization. In pediatric cases, particularly neonates, surgery is typically performed via thoracoscopic or open thoracoabdominal approaches within 48-72 hours after birth to minimize progression and allow for organ repositioning. For small defects that allow tension-free closure, primary closure using interrupted non-absorbable sutures is preferred to restore diaphragmatic without prosthetic . Larger defects that cannot be closed primarily necessitate patch repair using synthetic materials such as polytetrafluoroethylene (PTFE, e.g., ) or autologous muscle flaps to bridge the gap and prevent tension on the repair site. Thoracoscopic techniques in children offer advantages like reduced postoperative and shorter recovery compared to open , with recurrence rates as low as 1-5% in experienced centers.00893-1/fulltext) In adults, laparoscopic repair is the preferred minimally invasive approach for uncomplicated Bochdalek hernias, involving reduction of herniated viscera followed by primary suturing or reinforcement to achieve durable closure with minimal morbidity. This method is particularly suitable for left-sided defects, enabling abdominal exploration and avoiding , though open conversion may be required in cases of strangulation or extensive adhesions. use, such as composite or biosynthetic types, is common for large defects to reduce recurrence risk, which stands at approximately 2-10% across approaches. For right-sided or complicated hernias, a thoracoabdominal or hybrid open-laparoscopic strategy may be employed to address hepatic involvement or bilateral . Intraoperatively, the procedure begins with careful reduction of herniated organs, such as bowel or , to avoid , followed by excision of the sac if present and meticulous closure of the diaphragmatic defect. Adjuncts like placement ensure adequate lung expansion, while avoidance of excessive tension on the repair helps mitigate recurrence. Recent advances from 2023 to 2025 emphasize robotic-assisted surgery for both pediatric and repairs, offering enhanced precision in defect visualization and suturing, which has been linked to shorter operative times and faster recovery in select cases. Bioengineered patches, including absorbable biosynthetic reinforcements, promote better tissue integration and reduce risks compared to traditional synthetics, particularly in contaminated fields. These innovations build on minimally invasive foundations, with ongoing studies reporting improved and lower complication profiles in high-volume centers.

Outcomes

Prognosis

With advances in neonatal intensive care, including the use of (ECMO) and standardized protocols, survival rates for neonates with Bochdalek hernia—a common form of congenital (CDH)—have risen to 70-90% in high-volume centers as of 2024. Recent studies indicate further improvements, with overall survival reaching 85% in cohorts post-2010. However, survival varies significantly by hospital, with some centers achieving up to 18 times higher rates than others. Prior to 2000, in the pre-ECMO era, survival was substantially lower, ranging from 40-60%. Prenatal observed-to-expected lung-to-head ratio (LHR) is used to assess , though its reliability as a predictor remains debated. The absence of major associated anomalies further improves , as isolated CDH cases achieve survival rates exceeding 90% in specialized care settings. Key prognostic factors include defect severity and need for advanced interventions; for instance, isolated CDH without chromosomal or cardiac anomalies correlates with over 95% in optimal scenarios for smaller defects amenable to primary repair. In contrast, severe cases requiring ECMO have survival rates of approximately 30-50%, reflecting persistent challenges with and despite technological advances. Among survivors, long-term outcomes reveal morbidities in 50-70% of cases, including chronic lung disease manifesting as or reactive airway issues, (GERD) requiring medical or surgical intervention, and neurodevelopmental delays such as cognitive or motor impairments. These issues often stem from initial hypoxic injury and prolonged ventilation, emphasizing the need for multidisciplinary follow-up. In adults with Bochdalek hernia, typically presenting asymptomatically or with delayed symptoms, is excellent following elective surgical repair, with near 100% survival and low complication rates. Emergency presentations, such as incarceration or , carry higher morbidity but achieve approximately 70% survival post-intervention due to mature and less pulmonary compromise.

Complications

Bochdalek hernia can lead to several hernia-related complications, primarily involving organ incarceration or strangulation, which occurs in approximately 25% of symptomatic adult cases based on a of 55 patients, often affecting the , , or colon and potentially resulting in or . In neonates, untreated hernias risk acute respiratory distress due to and persistent , though strangulation rates are lower (around 2-5% in delayed presentations) compared to adults. Post-repair, (GERD) develops in 30-80% of survivors, attributed to diaphragmatic distortion and patch use, frequently requiring fundoplication. Recurrent hernia, a major concern with patch repairs, affects 16.2% of cases versus 5.8% with primary suture repair, as shown in a of over 3,000 patients. Treatment-related complications include surgical site infections, occurring in 3-14% of open repairs, with an average around 5% in series using biosynthetic patches. Patch migration or dehiscence contributes to recurrence, particularly in large defects, while minimally invasive approaches like thoracoscopy carry a risk of port-site hernias, reported in recent case series from 2023 onward as rare but notable adverse events. For neonates requiring extracorporeal membrane oxygenation (ECMO), complications arise in 70% of runs, including thrombosis and bleeding, which increase mortality risk with prolonged support beyond two weeks. Long-term complications persist in many survivors, with developing in 20-48% due to thoracic distortion from the hernia or repair, often requiring orthopedic monitoring. Feeding difficulties and growth impairment affect up to 50% into , linked to GERD and esophageal dysmotility, while recurs in 8-38% (approximately 15-20% persistently severe), necessitating lifelong pulmonary follow-up. Chronic lung disease, including obstructive patterns, is common in 25-50% of cases, exacerbated by initial and ventilation .

Epidemiology

Incidence and Prevalence

Bochdalek hernia represents the predominant form of congenital diaphragmatic hernia (CDH), comprising approximately 85-90% of all CDH cases. The overall incidence of CDH is estimated at 1 in 2,500 to 4,000 live births worldwide, translating to roughly 2.5-4 cases per 10,000 live births, with Bochdalek hernias thus occurring at a similar proportional rate. This rarity underscores its status as a significant congenital anomaly, though exact figures can vary slightly due to differences in reporting and diagnostic criteria across studies. In adults, Bochdalek hernia is exceedingly uncommon, with symptomatic or incidental prevalence ranging from 0.17% to 6% based on and clinical series. and studies reveal a higher underlying frequency, estimating incidental Bochdalek hernias in up to 6% of adults. These findings highlight that many adult cases remain latent until advanced or postmortem examination. Geographic variations in CDH incidence show slight differences across regions, with pooled estimates around 2.4 per 10,000 live births in and as of recent meta-analyses. These differences may stem from genetic, environmental, or ascertainment factors, but overall rates have remained stable through 2025, with no significant temporal shifts observed in recent registries. Bochdalek hernias show a slight male predominance, with a male-to-female ratio of approximately 1.5:1 to 2:1. Trends in detection have improved markedly due to routine prenatal screening, achieving rates of approximately 60% for CDH, including Bochdalek types, primarily during the second trimester. This enhanced prenatal identification has substantially decreased the proportion of undiagnosed cases presenting postnatally, facilitating earlier interventions and better resource allocation.

Associated Conditions

Bochdalek hernia, the most common form of congenital (CDH), frequently co-occurs with other congenital anomalies, which can significantly complicate management and influence . Approximately 30-40% of CDH cases involve additional major malformations, often affecting multiple organ systems and contributing to higher morbidity and mortality rates compared to isolated cases. Cardiac anomalies are among the most prevalent associations, occurring in 20-40% of cases, and include structural defects such as (VSD) and ; these malformations can exacerbate and adversely impact long-term survival. Chromosomal abnormalities are identified in 10-16% of patients, with notable examples including trisomy 13 and , which further elevate the risk of multisystem involvement and poorer outcomes. Central nervous system (CNS) defects occur in about 15% of cases, encompassing conditions like defects and that may lead to neurodevelopmental challenges. Renal anomalies affect approximately 10% of individuals, often manifesting as genitourinary malformations such as unilateral , while skeletal dysplasias, also seen in around 10%, include limb anomalies like and . Up to 30% of CDH cases, including Bochdalek hernia, are associated with genetic syndromes, such as Fryns syndrome, which combines diaphragmatic defects with characteristic facial dysmorphisms and distal limb anomalies; these syndromic links underscore the role of genetic factors in disease etiology.

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