Diaphragmatic Hernia

(Hernia—Diaphragmatic; Congenital Hernia of the Diaphragm)

Definition

Diaphragmatic hernia is a congenital defect in which an opening is present in the diaphragm at birth. The diaphragm is the partition separating the chest and abdominal cavities. The abnormal opening allows some of the organs typically found in the abdomen to move into the chest cavity. In infants born with diaphragmatic hernia, the abdominal organs push up against the lungs. This prevents the lungs from developing normally.

Diaphragmatic hernia is a serious condition with many potential complications and side effects.

Causes

Diaphragmatic hernia is caused by a failure of the diaphragm to completely fuse during fetal development.

Diaphragmatic Hernia—Stomach and Intestines Move into Chest Cavity

Risk Factors

Several chromosomal syndromes are associated with an increased chance of congenital diaphragmatic hernia.

Symptoms

Symptoms include:

Severe respiratory distress, including rapid breathing, grunting, use of accessory muscles, and bluish tint to the skin from lack of oxygen
Asymmetrical or increased diameter of the chest wall
Concave abdomen

Diagnosis

Diagnosis is frequently made on prenatal ultrasound.

If not found prior to birth, your doctor will perform a physical exam. A chest x-ray may be done to confirm the presence of abdominal organs in the chest cavity.

Treatment

Treatment includes the following:

Surgery

Surgery to repair the defect and move the organs into the abdomen is performed after the infant has been stabilized. Surgery involves either sewing the edges of the diaphragm together, or if the hole is too large, using an artificial patch to fully close the hole. Fetal surgery may be offered at some institutions for select patients.

Respiratory Support

Aggressive respiratory support, including intubation with mechanical ventilation, is often needed. Different ventilator strategies may be used. Extracorporeal membrane oxygenation (ECMO), or cardiopulmonary bypass, may be necessary to stabilize the infant.

Prevention

There is no known prevention for diaphragmatic hernia.

RESOURCES

American Academy of Pediatrics http://www.healthychildren.org

American Congress of Obstetricians and Gynecologists http://www.acog.org

CANADIAN RESOURCES

Health Canada http://www.hc-sc.gc.ca

The Hospital for Sick Children http://www.sickkids.ca

References

Congenital diaphragmatic hernia (CDH). Cincinnati Children's Hospital Medical Center website. Available at: http://www.cincinnatichildrens.org/health/c/diaphragmatic-hernias. Updated January 2011. Accessed May 22, 2013.

Congenital diaphragmatic hernia. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated February 9, 2012. Accessed May 22, 2013.

Congenital diaphragmatic hernia. The Fetal Treatment Center. The University of California, San Francisco website. Available at: http://fetus.ucsfmedicalcenter.org/cdh/. Updated May 23, 2012. Accessed May 22, 2013.

Revision Information

Reviewer: Marcin Chwistek, MD; Brian Randall, MD
Review Date: 05/2013
Update Date: 05/22/2013

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.