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Diaphragmatic Hernia by Diana Kohnle

Definition

Diaphragmatic hernia is a congenital defect in which an opening is present in the diaphragm (the partition separating the chest and abdominal cavities) at birth. This abnormal opening allows some of the organs typically found in the abdomen to move into the chest cavity.

In infants born with diaphragmatic hernia, organs including the spleen, stomach, small intestine, part of the liver, and the kidney may be found in the chest cavity rather than in the abdomen. The lungs may also be abnormally developed.

Diaphragmatic hernia is a serious condition with many potential complications and side effects. However, the developments of technology and procedures have improved the survival rate to approximately 67%.

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

A risk factor is something that increases your chance of getting a disease or condition. Several chromosomal syndromes are associated with 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 (cyanosis)
Asymmetrical or increased diameter of the chest wall
Concave abdomen

Diagnosis

Diagnosis is frequently made on prenatal ultrasound . Your doctor will perform a physical exam. Tests may include the following:

Listening to the chest to check for movements of the chest that are asymmetric with breathing, absent breath sounds on one side, bowel sounds in the chest, and a concave abdomen that feels vacant when palpated
Chest x-ray to diagnose 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. This period of stabilization may take 48 hours or more. 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:

The Association of Congenital Diaphragmatic Hernia Research, Advocacy and Support http://www.cherubs-cdh.org/
University of Virginia Health System http://www.healthsystem.virginia.edu/

CANADIAN RESOURCES:

British Columbia Ministry of Health Health Link BC http://www.healthlinkbc.ca/
Sick Kids (The Hospital for Sick Children) http://www.sickkids.ca/

References:

Congenital diaphragmatic hernia/CDH. Chest/lung conditions and diagnoses. Cincinnati Children's Hospital Medical Center website. Available at: http://www.cincinnatichildrens.org/health/info/chest/diagnose/diaphragmatic-hernias.htm . Accessed May 31, 2007.
Congenital diaphragmatic hernia. The Fetal Treatment Center. The University of California, San Francisco website. Available at: http://fetus.ucsfmedicalcenter.org/cdh/ . Accessed May 31, 2007.
Kleigman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 18th ed. Saunders: Philadelphia, PA; 2007.
Overview of congenital diaphragmatic hernia. Congenital Diaphragmatic Hernia/CDH. Fetal Care Center of Cincinnati website. Available at: http://www.fetalcarecenter.org/fetal-surgery/cdh/ . Accessed May 31, 2007.

Last reviewed December 2011 by Marcin Chwistek, MD

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