Diaphragmatic Hernia: Symptoms, Types, Causes and Treatment

A diaphragmatic hernia is a serious medical condition in which abdominal organs move into the chest cavity through an abnormal opening in the diaphragm. This can lead to a complex array of symptoms and requires careful diagnosis and management. In this comprehensive article, we’ll explore the key symptoms, different types, underlying causes, and the best approaches to treatment—drawing on the latest medical research and clinical evidence.

Symptoms of Diaphragmatic Hernia

Recognizing a diaphragmatic hernia can be challenging because its symptoms often mimic those of other thoracic or abdominal disorders. Symptoms can vary widely depending on the size of the hernia, its location, and the organs involved.

Symptom	Description	Frequency/Notes	Sources
Respiratory	Shortness of breath, dyspnea, cough	Common, especially in large hernias	1 2 3 4 8
Cardiovascular	Palpitations, chest pain	May mimic heart disease	1 3 4
Gastrointestinal	Abdominal pain, vomiting, bloating	Upper GI symptoms in ~50% of cases	1 2 4 8
Asymptomatic	No clear symptoms	Sometimes in small or chronic cases	8 17

Table 1: Key Symptoms

Understanding the Symptoms

Diaphragmatic hernia symptoms often blend respiratory, cardiovascular, and gastrointestinal issues. This overlap can make diagnosis tricky, as these signs are easily mistaken for other common conditions.

Respiratory Symptoms

• Shortness of breath (dyspnea): Frequently reported due to lung compression by herniated organs. This can worsen with exertion or lying down 1 2 3 4.
• Cough and chest discomfort: Some patients experience chronic coughs or vague chest pain, often mistaken for lung disease 2 4.
• Reduced breath sounds: On examination, air entry may be diminished over the affected lung field 4.

Cardiovascular Symptoms

• Palpitations and chest pain: Pressure from herniated organs can irritate the heart, causing palpitations and chest discomfort. These symptoms are often more pronounced when lying on the side opposite the hernia 1 3.
• Mediastinal shift: Large hernias may push the mediastinum (central chest structures) to the opposite side, producing further cardiac symptoms 4.

Gastrointestinal Symptoms

• Abdominal pain and bloating: Especially after eating, patients may feel fullness, pressure, or pain in the upper abdomen due to stomach or intestine displacement 1 3 4 8.
• Nausea and vomiting: When the stomach or bowel becomes trapped or obstructed within the chest, it can lead to severe GI symptoms 4 8.

Asymptomatic or Mild Cases

• Incidental findings: Not all diaphragmatic hernias cause obvious symptoms. Smaller defects can be discovered incidentally during imaging for other reasons 8 17.
• Chronic or subtle symptoms: Some adults present with vague, intermittent complaints that only become severe if complications arise 17.

Types of Diaphragmatic Hernia

Diaphragmatic hernias are classified based on their origin, anatomical location, and whether the defect is present at birth or acquired later.

Type	Location/Defect	Typical Age/Onset	Sources
Congenital	Posterolateral (Bochdalek)	Newborns (rare in adults)	6 7 8 10 11
	Retrosternal (Morgagni)	Infants/children	5 6 19
	Eventration	Weak diaphragm, any age	6
Acquired	Traumatic	Any age, post-injury	1 3 8 9 17 18
	Iatrogenic	Post-surgery	5 16
	Hiatal	Esophageal hiatus	Adults

Table 2: Main Types of Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH)

Congenital hernias are present at birth and account for most cases in infants. The two main types are:

• Bochdalek hernia: The most common, occurring in the posterolateral diaphragm—usually on the left side (about 75%) 6 7. It allows abdominal organs like the stomach and intestines to herniate into the chest, causing lung underdevelopment (hypoplasia) and neonatal respiratory distress 7 12.
• Morgagni hernia: Occurs in the front (retrosternal), more common in children but can appear in adults 5 6.
• Eventration: Involves thinning or weakness of the diaphragm muscle rather than a true hole, leading to upward bulging 6.

Acquired Diaphragmatic Hernia

• Traumatic hernia: Results from blunt or penetrating injuries (e.g., car accidents, falls, stab wounds) that tear the diaphragm. These can present acutely or months/years later as chronic hernias 1 3 8 9 17 18.
• Iatrogenic hernia: Arises as a complication after surgeries involving the upper abdomen or chest—such as esophagectomy—when the diaphragm is inadvertently damaged 5 16.
• Hiatal hernia: Involves the esophageal hiatus, allowing the stomach to protrude into the chest. Hiatal hernias are common in adults and may be sliding or paraesophageal 5 9.

Laterality and Defect Size

• Left-sided vs. right-sided: Left-sided hernias are far more common, as the liver protects the right diaphragm 3 6.
• Bilateral hernias: Extremely rare, involving defects on both sides 6.
• Defect size: Larger hernias may accommodate more organs, but even small defects can produce severe symptoms if they cause obstruction or strangulation 3 8.

Causes of Diaphragmatic Hernia

Understanding what leads to a diaphragmatic hernia helps inform prevention and management strategies. Causes are divided into congenital (present at birth) and acquired (develop later).

Cause	Mechanism/Trigger	Key Details/Associated Risks	Sources
Genetic	Chromosomal or gene mutations	Polygenic, syndromic links	7 10 11 12 13 14
Developmental	Retinoid pathway disturbance	Abnormal diaphragm/lung dev.	7 12 14
Traumatic	Blunt/penetrating injury	Car accidents, falls, wounds	1 3 8 9 17 18
Iatrogenic	Surgery-related damage	Esophagectomy, abdominal op.	5 16
Idiopathic	No clear cause	Rare, especially in adults	4

Table 3: Major Causes of Diaphragmatic Hernia

Congenital Causes

Genetic Factors

• Chromosomal abnormalities: CDH can be caused by chromosomal defects (trisomy 18, 21, others), copy number variants, or single-gene mutations. No single genetic cause accounts for most cases, but up to 30% of non-isolated cases may have an identifiable genetic link 10 11 13.
• Syndromic associations: CDH may be part of genetic syndromes such as Pallister-Killian, Fryns, or Donnai-Barrow 7.

Developmental Disruptions

• Retinoid hypothesis: Disturbed retinoic acid signaling during fetal development is a leading theory, affecting diaphragm and lung formation 7 12 14.
• Pleuroperitoneal fold defects: Abnormal development of these embryonic structures leads to incomplete diaphragm formation and herniation 12.

Acquired Causes

Traumatic Injury

• Blunt trauma: Motor vehicle accidents, falls, and crush injuries can tear the diaphragm 1 3 8 9 17 18.
• Penetrating trauma: Stab or gunshot wounds to the chest/abdomen may cause hernias 17.
• Delayed presentation: Some traumatic hernias manifest months to years after the initial injury 18.

Iatrogenic (Surgical) Causes

• Post-surgical complications: Diaphragmatic hernias can develop after surgeries that involve manipulation or resection near the diaphragm, such as esophagectomy or hiatal hernia repair 5 16.
• Risk of recurrence: Surgical repair does not eliminate the risk of future herniation, especially if the defect is large or mesh is not used 16.

Idiopathic Causes

• No clear cause: Rarely, diaphragmatic hernias occur without trauma or surgery, sometimes in older adults. These cases are considered idiopathic and are very uncommon 4.

Treatment of Diaphragmatic Hernia

Treating a diaphragmatic hernia requires a tailored approach depending on the patient’s age, symptoms, hernia size, and stability. Surgery is the mainstay, but timing, technique, and urgency vary.

Treatment	Approach	Indications/Notes	Sources
Surgical Repair	Open or minimally invasive (lap/thoracoscopy)	All symptomatic or large hernias	5 8 15 17 18 19
Mesh Repair	Biological/synthetic mesh	Large/complex defects	15 16 18
Emergency Surgery	Immediate intervention	Strangulation, obstruction, instability	8 15 17 18
Conservative	Observation/symptom management	Rare; small, asymptomatic hernias	1 8

Table 4: Main Treatment Approaches

Surgical Repair

• Definitive treatment: Surgery is required for almost all symptomatic, large, or complicated diaphragmatic hernias 5 8 15 17 18 19.
• Minimally invasive techniques: Laparoscopic or thoracoscopic repair is preferred for stable patients, offering less trauma, faster recovery, and fewer complications (but a slightly higher recurrence risk compared to open surgery) 15 19.
• Open surgery: Reserved for hemodynamically unstable patients, very large hernias, or when minimally invasive options are not possible 15 17 18.
• Repair technique: Small defects may be closed with sutures; larger ones require reinforcement with biological or synthetic mesh to prevent recurrence 15 16 18.

Emergency Surgery

• When urgent intervention is needed: Acute presentations with organ strangulation, compromised breathing, or bowel obstruction require immediate surgical intervention to minimize morbidity and mortality 8 15 17 18.
• Damage control: In unstable patients, a staged approach (damage control surgery) may be used, stabilizing the patient before definitive repair 15.

Conservative (Non-Surgical) Management

• Observation: Rarely appropriate, may be considered in elderly patients with small, asymptomatic hernias or those with prohibitive surgical risk 1 8.
• Risk of complications: Non-operative management is associated with higher morbidity and mortality due to risks of obstruction, strangulation, and cardiorespiratory compromise.

Special Considerations

• Pediatric and neonatal cases: Require advanced critical care (ventilation, ECMO) before surgery, especially in congenital cases with lung hypoplasia 7.
• Postoperative care: Monitoring for complications (infection, recurrence, respiratory issues) is crucial. Thoracoscopic repairs may have a slightly higher recurrence rate but carry less overall morbidity 19.
• Imaging: Preoperative imaging (CT scan is gold standard) defines the defect and organ involvement, guiding surgical planning 5 8 15 18.

Conclusion

Diaphragmatic hernia is a complex condition with potentially serious consequences, but advances in diagnosis and treatment have significantly improved outcomes. Here’s a summary of the main points:

• Symptoms: Overlap between respiratory, gastrointestinal, and cardiac complaints; can be subtle or severe depending on hernia size and organs involved.
• Types: Include congenital (Bochdalek, Morgagni, eventration) and acquired (traumatic, iatrogenic, hiatal); left-sided defects are most common.
• Causes: Range from genetic and developmental disruptions (especially in neonates) to trauma and surgical complications in adults.
• Treatment: Surgery is the standard of care for most cases—minimally invasive techniques are preferred when possible, but open surgery is sometimes necessary; emergency surgery is lifesaving in acute cases.

Key Takeaways:

• Diaphragmatic hernia should always be considered in patients with unexplained chest or abdominal symptoms, especially with a history of trauma or surgery.
• Early and accurate diagnosis, primarily using CT imaging, is critical.
• Surgical repair offers the best chance of cure and prevention of life-threatening complications.
• Ongoing research is deepening our understanding of the genetic and developmental origins of congenital cases, paving the way for better treatments in the future.

If you or someone you know experiences unexplained chest pain, breathing difficulty, or abdominal discomfort—especially after trauma or surgery—prompt medical evaluation is essential.