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Diaphragmatic hernia

A diaphragmatic hernia is a birth defect in which there is an abnormal opening in the diaphragm. The diaphragm is the muscle between the chest and abdomen that helps you breathe. The opening allows part of the organs from the belly (stomach, spleen, liver, and intestines) to go up into the chest cavity near the lungs.

Alternative Names

Hernia - diaphragmatic; Congenital hernia of the diaphragm

Causes

A diaphragmatic hernia is a rare defect that occurs while the baby is developing in the womb. The abdominal organs, such as the stomach, small intestine, spleen, part of the liver, and the kidney, may take up part of the chest cavity. This prevents the lung from growing normally.

It is more common on the left side. Having a parent or sibling with the condition slightly increases your risk.

Symptoms

Severe breathing problems almost always develop shortly after the baby is born. This is due in to poor movement of the diaphragm muscle crowding of the lung tissue. This causes the lung to collapse.

Other symptoms include:

Exams and Tests

The pregnant mother may have a large amount of amniotic fluid. Fetal ultrasound may show abdominal organs in the chest cavity.

An exam of the infant shows:

  • Irregular chest movements
  • Lack of breath sounds on side with the hernia
  • Bowel sounds that are heard in the chest
  • Abdomen that feels less full when touched

A chest x-ray may show abdominal organs in chest cavity.

Treatment

A diaphragmatic hernia repair is an emergency that requires surgery. Surgery is done to place the abdominal organs into the proper position and repair the opening in the diaphragm.

The infant will need breathing support during the recovery period. Some infants are placed on a heart/lung bypass machine. This gives the lungs a chance to recover and expand after surgery.

If a diaphragmatic hernia is diagnosed during pregnancy (around 24 to 28 weeks), fetal surgery may be an option.

Outlook (Prognosis)

The outcome of surgery depends on how well the baby's lungs have developed. It also depends on whether there are any other congenital problems. Usually, the outlook is very good for infants who have enough lung tissue and have no other problems.

Medical advances have made it possible for 4 out of 5 infants with this condition to survive.

Possible Complications

  • Lung infections
  • Other congenital problems

When to Contact a Medical Professional

Go to the emergency room or call the local emergency number (such as 911). A diaphragmatic hernia is a surgical emergency.

Prevention

There is no known prevention.

References

Maheshwari A, Carlo WA. Diaphragmatic hernia. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 95.

Keijzer R, Puri P. Congenital diaphragmatic hernia. Semin Pediatr Surg. 2010 Aug; 19(3):180-5.

Puri P, Nakazawa N. Congenital diaphragmatic hernia. In: Puri P, Hollworth M, eds. Pediatric surgery: diagnosis and management. Springer, 2009:chap 31.

Updated: 6/9/2013

Sameer Patel, MD, Assistant Professor of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


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