Diaphragmatic Hernia

Overview

The diaphragm is the dome-shaped muscle that separates the chest from the abdomen and plays a key role in breathing. A diaphragmatic hernia occurs when there is an opening or weakness in this muscle, allowing organs from the abdomen — such as the stomach, intestines, spleen, or liver — to push up into the chest cavity.

There are two broad types. A congenital diaphragmatic hernia is present at birth, when the diaphragm does not form completely. An acquired diaphragmatic hernia develops later, often after a significant injury to the chest or abdomen. A hiatal hernia, where part of the stomach pushes up through the natural opening for the esophagus, is a common, usually milder, related condition. Treatment depends on the type and severity but often involves surgery.

The seriousness of a diaphragmatic hernia depends largely on its size and on which organs move into the chest. A large hernia can crowd the lungs and heart, affecting breathing and circulation, whereas a small one may cause only mild or occasional symptoms. In newborns, the main concern is that the developing lungs may have been compressed and not grown fully, which can make breathing difficult after birth.

Symptoms

Symptoms vary widely with the size of the hernia and which organs are involved.

• Difficulty breathing or shortness of breath
• Rapid breathing or a fast heartbeat
• Chest or abdominal discomfort
• Bluish skin color in newborns with severe congenital hernias
• Digestive symptoms such as reflux, nausea, or feeling full quickly

A large congenital diaphragmatic hernia can cause serious breathing difficulty soon after birth, because the lungs may not develop fully. Small acquired hernias may cause few or no symptoms, while larger ones can lead to significant breathing or digestive problems.

Causes

The cause depends on the type:

• Congenital: The diaphragm fails to close completely as the baby develops before birth, leaving an opening through which abdominal organs move into the chest. The exact reason is often unknown and may involve genetic and developmental factors.
• Acquired: Usually results from trauma, such as a serious blow to the abdomen, a fall, a car crash, or, less often, complications of surgery. The injury tears or weakens the diaphragm.

Risk Factors

• For acquired hernias: major blunt or penetrating injury to the chest or abdomen
• Previous surgery involving the diaphragm or nearby organs
• For congenital hernias: developmental factors before birth, sometimes alongside other birth differences

Congenital diaphragmatic hernia is usually detected in babies, while acquired forms can occur at any age following injury.

Diagnosis

Diagnosis relies mainly on imaging that shows abdominal organs in the chest.

• Prenatal ultrasound: Can detect many congenital diaphragmatic hernias before birth.
• Chest X-ray: Often shows abdominal contents in the chest and a shifted position of the heart or lungs.
• CT scan: Provides detailed images, especially useful after trauma.
• Other tests: Such as studies with contrast to outline the stomach and intestines.

Treatment

Most significant diaphragmatic hernias are repaired surgically, with the approach depending on the situation.

• Surgery: The displaced organs are returned to the abdomen and the opening in the diaphragm is closed, sometimes using a patch for larger defects.
• Newborn care: Babies with congenital hernias often need breathing support and stabilization before and after surgery, usually in a specialized unit.
• Emergency surgery: May be needed if the hernia causes severe breathing trouble or if organs become trapped or lose their blood supply.

The outlook varies, and depends on the size of the hernia, lung development in congenital cases, and how quickly an acquired hernia is treated.

Prevention

• Congenital diaphragmatic hernia generally cannot be prevented, as it forms before birth
• Attending recommended prenatal care helps detect it early so a delivery plan can be made
• For acquired hernias, reducing the risk of serious trauma helps — for example, wearing seat belts and following safety practices
• Seeking prompt medical care after a significant chest or abdominal injury allows early detection

When to See a Doctor

Seek emergency care or call emergency services if you or someone else has sudden severe breathing difficulty, chest pain, or a bluish color to the skin, especially after a significant injury. For a newborn, severe breathing trouble at birth is a medical emergency handled by the care team. Also see a doctor if you have:

• Ongoing shortness of breath, reflux, or chest and abdominal discomfort after an injury
• Vomiting with severe abdominal pain
• Symptoms that worsen over time

Related Topics

Frequently Asked Questions

References

1. MedlinePlus, U.S. National Library of Medicine. Diaphragmatic hernia.
2. National Institutes of Health (NIH). Congenital diaphragmatic hernia.
3. Mayo Clinic. Hiatal hernia — Symptoms and causes.
4. American Pediatric Surgical Association. Congenital diaphragmatic hernia.