Background

Diaphragmatic hernia is characterized by the protrusion of abdominal organs into the chest cavity through a defect or weakness in the diaphragm, which is the muscular partition separating the chest cavity from the abdominal cavity. This allows the abdominal contents, such as the stomach, intestines, liver, or spleen, to herniate or move into the thoracic cavity. Diaphragmatic hernias can be present at birth (congenital) or develop later in life (acquired).

Congenital Diaphragmatic Hernia (CDH):

• CDH is a congenital disability that occurs during fetal development, where the diaphragm fails to form correctly, leaving a hole or opening. The exact cause is unknown, but it is thought to result from abnormal diaphragm development in the early stages of pregnancy.
• CDH typically manifests during infancy, with respiratory distress being the most common symptom. Herniated organs can cause compression and displacement of the lungs, leading to breathing difficulties and potentially life-threatening complications.
• CDH is often associated with other congenital anomalies or genetic syndromes, such as chromosomal abnormalities or structural malformations.

Acquired Diaphragmatic Hernia:

• Acquired diaphragmatic hernias occur later in life and are typically caused by traumatic injury to the chest or abdomen, such as motor vehicle accidents, penetrating injuries, or surgical complications.
• Blunt force trauma can cause a sudden increase in intra-abdominal pressure, leading to a rupture or tear in the diaphragm. This allows abdominal organs to herniate into the chest cavity.
• Acquired diaphragmatic hernias may also result from iatrogenic causes, such as surgical complications or invasive diaphragm procedures.

Epidemiology

Congenital Diaphragmatic Hernia (CDH):

• The exact incidence of congenital diaphragmatic hernia (CDH) is approximately 1 to 4 per 10,000 live births. The incidence may vary across different populations and regions.
• CDH is often associated with other congenital anomalies or genetic syndromes, further influencing its epidemiology and outcomes.

Acquired Diaphragmatic Hernia:

• Acquired diaphragmatic hernias are less common than congenital diaphragmatic hernias.
• Traumatic injuries, such as motor vehicle accidents, are among the leading causes that influence the incidence of acquired diaphragmatic hernias.
• Iatrogenic diaphragmatic hernias resulting from surgical procedures or interventions are rare but can occur as a complication.

Anatomy

Pathophysiology

Congenital Diaphragmatic Hernia (CDH):

• Defective Diaphragmatic Development: During fetal development, there is an incomplete or abnormal diaphragm formation, resulting in a defect or hole. This defect allows abdominal organs, such as the intestines, liver, and spleen, to herniate through the diaphragm into the chest cavity.
• Pulmonary Hypoplasia: The herniation of abdominal organs into the chest cavity can impede the average growth and development of the lungs. The herniated organs can compress the developing lungs, reducing their growth and causing pulmonary hypoplasia. This leads to inadequate lung tissue and impaired pulmonary function.
• Pulmonary Hypertension: Pulmonary hypoplasia can also result in pulmonary hypertension, characterized by increased resistance to blood flow in the pulmonary vasculature. The hypoplastic lungs have limited gas exchange capacity, leading to reduced oxygenation and elevated pulmonary arterial pressures.
• Cardiovascular Changes: CDH can affect the cardiovascular system due to the abnormal positioning of abdominal organs in the chest cavity. The displacement of the heart can lead to cardiac compression and alterations in cardiac function.

Acquired Diaphragmatic Hernia:

• Traumatic Injury or Surgical Complication: Acquired diaphragmatic hernias occur due to traumatic injuries, such as blunt or penetrating trauma to the chest or abdomen, or as a surgical complication following procedures involving the diaphragm.
• Diaphragmatic Rupture or Tear: The traumatic force or surgical injury can cause a rupture or tear in the diaphragm, creating an opening through which abdominal organs can herniate into the chest cavity.
• Organ Displacement and Compression: The herniated abdominal organs in the chest cavity can displace and compress the thoracic structures, including the lungs, heart, and blood vessels. This can lead to respiratory compromise, cardiovascular dysfunction, and other complications.

Etiology

Congenital Diaphragmatic Hernia (CDH):

• Developmental Defects: The majority of CDH cases are believed to result from developmental defects during embryogenesis. The exact cause is not fully understood, but it is thought to involve abnormalities in the formation and closure of the diaphragm. Genetic factors and environmental influences may contribute to these defects.
• Genetic Factors: Certain genetic abnormalities have been associated with an increased risk of CDH. Chromosomal abnormalities, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), are commonly found in individuals with CDH. Mutations in specific genes involved in diaphragm development, such as the FOG2 gene or ZFPM2 gene, have also been implicated in some cases.
• Environmental Factors: There is evidence to suggest that environmental factors may play a role in the development of CDH. Maternal smoking, exposure to certain medications (e.g., selective serotonin reuptake inhibitors), and maternal use of recreational drugs have been associated with an increased risk of CDH.

Acquired Diaphragmatic Hernia:

• Traumatic Injury: Acquired diaphragmatic hernias can result from traumatic injuries to the chest or abdomen. Blunt force trauma, such as motor vehicle accidents or falls, can cause a sudden increase in intra-abdominal pressure and lead to diaphragmatic rupture or tear.
• Penetrating Injury: Penetrating injuries, such as stab or gunshot wounds, can directly damage the diaphragm and result in diaphragmatic hernia.
• Surgical Complications: Diaphragmatic hernias can occur as a complication of surgical procedures involving the diaphragm, such as diaphragmatic surgery or procedures that require diaphragmatic manipulation. This may happen due to incomplete diaphragm closure or disruption of the diaphragmatic repair after surgery.

Genetics

Prognostic Factors

• Type and Size of Hernia: The type and size of the diaphragmatic hernia can impact the prognosis. Significant defects or hernias involving multiple abdominal organs are generally associated with more severe symptoms and poorer outcomes than minor defects. In congenital diaphragmatic hernia (CDH), the location and size of the defect, as well as the degree of lung compression and pulmonary hypoplasia, can influence the prognosis.
• Lung Development and Pulmonary Hypoplasia: The degree of pulmonary hypoplasia, or underdevelopment of the lungs, is a critical prognostic factor in CDH. Severe pulmonary hypoplasia, characterized by inadequate lung tissue and impaired lung function, is associated with higher mortality rates and more challenging respiratory management.
• Associated Anomalies or Genetic Syndromes: Additional congenital anomalies or genetic syndromes can significantly affect the prognosis of diaphragmatic hernia. Specific genetic syndromes, such as trisomy 21 (Down syndrome) or trisomy 18 (Edwards syndrome), are associated with a higher risk of severe CDH and may influence the overall prognosis.
• Severity of Respiratory Distress: The severity of respiratory distress at birth or during the neonatal period is an important prognostic factor. Infants with severe respiratory distress requiring high levels of respiratory support, such as mechanical ventilation or extracorporeal membrane oxygenation (ECMO), may have a higher risk of mortality or long-term complications.
• Associated Complications: The presence of complications, such as gastrointestinal complications (e.g., intestinal malrotation, necrotizing enterocolitis) or cardiovascular abnormalities, can impact the prognosis and management of diaphragmatic hernia.

Clinical History

Neonates and Infants:

Age Group: Diaphragmatic hernia, particularly congenital diaphragmatic hernia (CDH), is often diagnosed in the neonatal period or shortly after birth.

• Clinical Presentation: Newborns with a diaphragmatic hernia may exhibit respiratory distress, including tachypnea (rapid breathing), cyanosis (bluish discoloration of the skin), and retractions (visible pulling in of the chest wall during breathing). Severe cases of CDH may present with life-threatening respiratory failure.
• Associated Comorbidities: CDH can be associated with other congenital anomalies or genetic syndromes, such as cardiac defects, chromosomal abnormalities (e.g., trisomy 21), or genitourinary abnormalities.
• Acuity of Presentation: The presentation of CDH is typically acute and requires immediate medical attention due to the severity of respiratory distress.

Older Children and Adults:

• Age Group: Diaphragmatic hernias in older children and adults are more commonly acquired rather than congenital.
• Clinical Presentation: Symptoms may vary depending on the size and type of diaphragmatic hernia. Some individuals may be asymptomatic and incidentally diagnosed during imaging studies. Others may present with respiratory symptoms (e.g., dyspnea, cough, chest pain), gastrointestinal symptoms (e.g., abdominal pain, bloating, vomiting), or both.
• Associated Comorbidities: In acquired diaphragmatic hernias, comorbidities may be related to the underlying cause, such as traumatic injuries, surgical complications, or other coexisting medical conditions.

Physical Examination

Neonates and Infants:

• Respiratory Distress: Newborns with diaphragmatic hernia, particularly congenital diaphragmatic hernia (CDH), often present with signs of respiratory distress, including increased respiratory rate (tachypnea), difficulty breathing, and retractions (visible pulling in of the chest wall during breathing).
• Cyanosis: Bluish skin discoloration (cyanosis) may be observed, indicating inadequate oxygenation.
• Decreased Breath Sounds: Decreased breath sounds may be heard over the affected side of the chest due to lung compression or displacement.
• Bowel Sounds in Chest: Abnormal bowel sounds may be auscultated over the chest due to the presence of abdominal organs in the thoracic cavity.
• Heart Sounds: Abnormal heart sounds, such as displacement or a murmur, may be heard depending on the position and impact of the herniated organs.

Older Children and Adults:

• Respiratory Symptoms: Individuals with diaphragmatic hernia may present with respiratory symptoms such as shortness of breath, difficulty breathing, or rapid breathing.
• Abdominal Examination: The physical examination may reveal asymmetry or fullness of the chest wall, decreased movement of the affected hemithorax during respiration, or visible abdominal contents in the chest cavity during respiratory effort.
• Bowel Sounds: Bowel sounds may be heard over the chest due to the presence of abdominal organs in the thoracic cavity.
• Abdominal Findings: The abdomen may show signs of distension or asymmetry, depending on the size and position of the herniated organs.
• Auscultation of Heart and Lungs: Heart sounds may be displaced, and breath sounds may be diminished over the affected side due to the herniated organs.

Age group

Associated comorbidity

• Associated comorbidities can vary depending on the individual and the underlying cause of the diaphragmatic hernia. For example, congenital diaphragmatic hernia (CDH) may be associated with cardiac anomalies, chromosomal abnormalities, or other congenital malformations.
• Activities involving increased intra-abdominal pressure, such as heavy lifting or strenuous physical exertion, may exacerbate symptoms in diaphragmatic hernias. However, the impact of specific activities can vary depending on the size and stability of the hernia.

Associated activity

Acuity of presentation

The acuity of the presentation can range from acute, as in cases of traumatic diaphragmatic hernias following a recent injury, to chronic or intermittent in cases of acquired hernias with gradual onset of symptoms.

Differential Diagnoses

Respiratory Conditions:

• Pneumonia: Infections of the lung can cause respiratory symptoms, such as cough, difficulty breathing, and abnormal breath sounds, which may overlap with diaphragmatic hernia.
• Asthma: Asthma can present with wheezing, shortness of breath, and respiratory distress, mimicking some symptoms of diaphragmatic hernia.
• Pleural Effusion: Accumulating fluid in the pleural space can cause respiratory symptoms and may mimic specific findings of diaphragmatic hernia.
• Chronic Obstructive Pulmonary Disease (COPD): COPD, characterized by airflow limitation and chronic respiratory symptoms, can overlap with diaphragmatic hernia.

Gastrointestinal Conditions:

• Gastroesophageal Reflux Disease (GERD): GERD can cause symptoms such as heartburn, regurgitation, and chest discomfort, which may mimic some manifestations of diaphragmatic hernia.
• Hiatal Hernia: Hiatal hernia occurs when a part of the stomach protrudes into the chest through the diaphragm, leading to symptoms like chest pain, reflux, and difficulty swallowing.
• Gastrointestinal Obstruction: Conditions like intestinal obstruction or volvulus can present abdominal pain, vomiting, and distension, which can overlap with diaphragmatic hernia.

Cardiac Conditions:

• Congenital Heart Defects: Some congenital heart defects, such as atrial septal or ventricular septal defects, can manifest with respiratory symptoms and may be considered in the differential diagnosis of diaphragmatic hernia.
• Cardiac Arrhythmias: Certain cardiac arrhythmias can cause symptoms like chest discomfort, palpitations, and shortness of breath, which may be mistaken for diaphragmatic hernia.

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

The treatment approaches for diaphragmatic hernia:

Congenital Diaphragmatic Hernia (CDH):

• Stabilization and Respiratory Support: Newborns with CDH often require immediate stabilization and respiratory support. This may involve providing supplemental oxygen, intubation, and mechanical ventilation. In severe cases, extracorporeal membrane oxygenation (ECMO) may be necessary for cardiopulmonary support.
• Surgical Repair: Definitive surgical repair of the diaphragmatic defect is typically performed once the patient is stable. The timing of surgery depends on the patient’s overall condition, respiratory status, and presence of associated anomalies. The surgical approach may involve primary closure of the defect or patch repair using synthetic materials or autologous tissue.
• Management of Associated Complications: CDH can be associated with complications such as pulmonary hypertension, gastroesophageal reflux, and feeding difficulties. These complications are managed using appropriate medical therapies and supportive care.

Acquired Diaphragmatic Hernia:

• Stabilization and Supportive Measures: Acquired diaphragmatic hernias may require stabilization and supportive measures, especially in traumatic diaphragmatic hernias. This may involve addressing respiratory distress, maintaining hemodynamic stability, and addressing associated injuries or complications.
• Surgical Repair: Surgical intervention is usually necessary to repair diaphragmatic defects. The timing of surgery depends on the patient’s overall condition and associated injuries. The surgical approach may involve primary closure of the defect or patch repair, depending on the size and stability of the hernia.
• Management of Associated Injuries and Complications: Acquired diaphragmatic hernias may be associated with other organs or structure injuries. These injuries require appropriate management, which may include surgical repair, fluid collection drainage, or other necessary interventions.

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

use-of-a-non-pharmacological-approach-for-treating-diaphragmatic-hernia

The primary treatment for diaphragmatic hernia is surgical repair. However, non-pharmacological approaches can play a supportive role in the management of diaphragmatic hernia. Here are some non-pharmacological approaches that may be used in the treatment of diaphragmatic hernia:

Respiratory Support:

• Mechanical Ventilation: Non-invasive or invasive mechanical ventilation may provide respiratory support and optimize oxygenation and ventilation.
• High-Frequency Oscillatory Ventilation (HFOV): HFOV is a specialized ventilation technique that delivers rapid and small-volume breaths to improve gas exchange and minimize lung injury in severe cases of diaphragmatic hernia.
• Extracorporeal Membrane Oxygenation (ECMO): In severe cases of diaphragmatic hernia, ECMO may provide cardiopulmonary support by temporarily bypassing the heart and lungs.

Positioning and Respiratory Techniques:

• Positioning: Specific patient positioning, such as keeping the head elevated or maintaining a side-lying position, may help optimize lung expansion and ventilation.
• Respiratory Therapy: Techniques such as chest physiotherapy, breathing exercises, and respiratory muscle training may improve respiratory function and strengthen respiratory muscles.

Nutritional Support:

• Enteral Feeding: Adequate nutrition is essential for the growth and development of infants with diaphragmatic hernia. Enteral feeding, which may involve breastfeeding or tube feeding, is initiated as appropriate and monitored to ensure adequate caloric intake and optimal growth.

Psychosocial Support:

• Emotional Support: Diagnosing and managing diaphragmatic hernia can be emotionally challenging for patients and their families. Access to counseling, support groups, and other psychosocial support services can be beneficial in managing stress and providing emotional support.

Rehabilitation:

• Physical Therapy: Physical therapy interventions may address motor function, muscle strength, and overall physical development, particularly in cases with prolonged respiratory support or associated neuromuscular complications.

Role of analgesics as respiratory support

The role of analgesics in treating diaphragmatic hernia is primarily to relieve pain following surgery.

Analgesics, specifically non-opioid analgesics, are commonly used in the treatment of diaphragmatic hernia to alleviate pain. These medications work by reducing pain signals and inflammation in the body. Commonly used non-opioid analgesics for diaphragmatic hernia pain management include:

• Acetaminophen (Tylenol) is a widely used over-the-counter analgesic that can help relieve mild to moderate pain. It works by inhibiting specific pain receptors in the brain.

Use of Anti-emetics in the treatment of diaphragmatic hernia

The primary uses of anti-emetics in the treatment of diaphragmatic hernia:

• Postoperative Nausea and Vomiting (PONV) Control: Diaphragmatic hernia repair surgery often involves general anesthesia, which can cause nausea and vomiting as side effects. Anti-emetics prevent or alleviate these symptoms and promote patient comfort during the postoperative period.
• Management of Side Effects of Analgesics: Analgesics, especially opioids, which may be used for pain control after diaphragmatic hernia surgery, can cause nausea and vomiting in some individuals. Anti-emetics can help counteract these side effects and improve patient tolerance to pain medications.
• Gastrointestinal Function Regulation: Diaphragmatic hernia can sometimes affect normal gastrointestinal function, leading to delayed gastric emptying or gastroparesis. Anti-emetics may be prescribed to help regulate and improve gastrointestinal motility, which can reduce symptoms like nausea and vomiting.
• Prevention of Aspiration: In cases where diaphragmatic hernia is associated with gastroesophageal reflux disease (GERD), anti-emetics may be used to minimize the risk of aspiration. By reducing gastric acid production and reflux, anti-emetics can help prevent the entry of stomach contents into the lungs and subsequent aspiration pneumonia.

Commonly prescribed anti-emetics for the treatment of diaphragmatic hernia include:

• Ondansetron: ondansetron, a selective 5-HT3 receptor antagonist, is primarily used as an anti-emetic medication to prevent or alleviate nausea and vomiting.
• Metoclopramide: metoclopramide is a medication commonly used to manage gastrointestinal symptoms, including nausea and vomiting.
• Dopamine D2 Receptor Antagonism: metoclopramide blocks dopamine D2 receptors in the central nervous system (CNS), reducing signals that trigger nausea and vomiting.
• Serotonin 5-HT4 Receptor Agonism: metoclopramide acts as an agonist at serotonin 5-HT4 receptors in the gastrointestinal (GI) tract, promoting gut motility and stimulating gastric emptying.
• Anti-cholinesterase Activity: metoclopramide inhibits acetylcholinesterase, enhancing the action of acetylcholine and promoting improved GI motility.

Use of Proton pump inhibitors to manage gastrointestinal conditions associated with diaphragmatic hernia

Proton pump inhibitors (PPIs) are a class of medications commonly used to manage gastrointestinal conditions, including those associated with diaphragmatic hernia.

• Gastroesophageal Reflux Disease (GERD) Control: Diaphragmatic hernia can develop or worsen GERD, a condition characterized by stomach acid reflux into the esophagus. PPIs reduce gastric acid production, alleviating symptoms such as heartburn, regurgitation, and chest discomfort associated with GERD.
• Ulcer Prevention: In some cases, a diaphragmatic hernia can increase the risk of developing gastric or duodenal ulcers due to alterations in the normal anatomy and functioning of the diaphragm and esophageal sphincter. PPIs can help prevent the formation of ulcers by reducing acid production and protecting the lining of the stomach and duodenum.
• Esophagitis Treatment: Esophagitis, inflammation of the esophagus, can occur due to chronic GERD. PPIs are often prescribed to reduce acid reflux and promote the healing of esophageal inflammation.
• Prevention of Aspiration: Diaphragmatic hernia can lead to the displacement of the stomach into the chest cavity, increasing the risk of aspiration. PPIs can help reduce gastric acid production and minimize the likelihood of acid reflux and aspiration pneumonia.

Role of Anesthesia in the Pain Management

Regional anesthesia techniques can play a role in managing pain associated with diaphragmatic hernia, particularly during surgical repair or as part of the perioperative care plan. Here are two commonly used regional anesthesia techniques for diaphragmatic hernia:

• Epidural Anesthesia:

Epidural anesthesia involves the placement of a catheter in the epidural space near the spinal cord to deliver local anesthetics. This technique provides effective pain relief and can be used for intraoperative and postoperative pain management.

During the surgical repair of a diaphragmatic hernia, epidural anesthesia can control pain and reduce the need for systemic opioids. It allows for better pain management while minimizing the side effects associated with systemic opioids, such as sedation and respiratory depression.

• Paravertebral Block:

Paravertebral block involves the injection of local anesthetics near the spinal nerves as they exit the spinal column. This technique provides targeted pain relief to the affected area.

Paravertebral block may be performed as a single-shot technique or a continuous catheter infusion. Continuous infusion allows for prolonged pain relief and can be adjusted based on the patient’s pain levels and requirements.

use-of-intervention-with-a-procedure-in-treating-diaphragmatic-hernia

Surgical Repair:

• Congenital Diaphragmatic Hernia (CDH): Surgical repair is the primary treatment for CDH. The procedure aims to close the defect in the diaphragm and restore normal anatomy. The surgical approach may vary depending on the surgeon’s preference and the specific characteristics of the hernia.
• Open Repair: This involves making an incision to access the hernia, reducing the herniated organs, and closing the defect using sutures or a patch.
• Minimally Invasive Repair: Some centers may perform minimally invasive procedures, such as laparoscopic or thoracoscopic repair, in exceptional cases of CDH. These techniques involve smaller incisions and specialized instruments to repair the diaphragmatic defect.
• Acquired Diaphragmatic Hernia: Surgical repair is also the primary treatment for acquired diaphragmatic hernia. The procedure involves identifying and repairing the defect in the diaphragm, often through an open surgical approach.

Associated Procedures:

• Associated Anomalies: In cases where diaphragmatic hernia is associated with other congenital anomalies or syndromes, additional procedures may be required to address those specific conditions. This may involve surgical correction of associated cardiac defects, genitourinary abnormalities, or gastrointestinal anomalies.

The phases involved in managing diaphragmatic hernia:

Preoperative Phase:

• Diagnosis and Evaluation: This phase begins with identifying and diagnosing diaphragmatic hernia through clinical evaluation, imaging studies (such as X-rays or ultrasound), and possibly additional tests to assess associated anomalies or complications.
• Stabilization and Support: Initial stabilization and respiratory support measures are implemented if the patient presents with severe respiratory distress or other critical conditions. In critical cases, this may involve oxygen therapy, intubation, mechanical ventilation, or even extracorporeal membrane oxygenation (ECMO).

Surgical Phase:

• Surgical Planning: Once the patient is stable and deemed suitable for surgery, the surgical phase begins with detailed planning, including choosing the appropriate surgical approach and technique based on the type and severity of the hernia, associated anomalies, and the surgeon’s expertise.
• Surgical Repair: The primary objective of this phase is to perform the surgical repair of the diaphragmatic hernia. The surgical procedure involves accessing the herniated organs, reducing them into the abdominal cavity, and repairing the diaphragmatic defect using sutures or patch materials.
• Intraoperative Care: Throughout the surgical phase, close monitoring of vital signs, anesthesia management, and careful handling of the herniated organs is crucial.

Postoperative Phase:

• Immediate Postoperative Care: After the surgical repair, the patient is closely monitored in the post-anesthesia care unit or intensive care unit, depending on the severity and complexity of the case. This phase focuses on pain management, respiratory support, monitoring for potential complications (e.g., bleeding, infection), and ensuring stable hemodynamics.
• Respiratory Management: The postoperative phase involves optimizing respiratory support, weaning from mechanical ventilation, and ensuring adequate oxygenation. This may include techniques such as pulmonary rehabilitation, chest physiotherapy, or non-invasive ventilation.
• Nutritional Support: Adequate nutrition is essential for healing and recovery. Nutritional support, such as enteral or parenteral feeding, is provided to meet the patient’s nutritional requirements.
• Long-Term Follow-Up: Long-term follow-up is crucial to monitor the patient’s progress, assess lung development, manage associated conditions or complications, and ensure overall well-being.

Medication

Future Trends

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References

Diaphragmatic Hernia – StatPearls – NCBI Bookshelf (nih.gov)

Fatal adult-onset diaphragmatic hernia in the context of the COVID-19 pandemic – PMC (nih.gov)