Surgical Procedures & Heart Info

A congenital diaphragmatic hernia (CDH) is the absence of the diaphragm, or a hole in the diaphragm. When this is present the abdominal organs including the bowel, stomach, spleen, and sometimes the liver to move upward into the chest cavity(Figure: A). Because this defect occurs during the fetal period, having the abdominal contents in the chest cavity can severely restrict the growth of the lung on the affected side. Infants born with congenital diaphragmatic hernia(CDH) usually present with profound respiratory distress after birth.

The term "congenital" means "born with" and the diaphragmatic hernia devolops when the fetus is around two months old. As a fetus grows in its mother's uterus before birth, the diaphragm forms between the 7th and 10th week of pregnancy. Other organs such as the esophagus, the stomach, and the intestines are also developing at this time. Sometimes the diaphragm may not develop properly, causing the intestine to become trapped in the chest cavity as the diaphragm is developing. In other cases, the tendon that is supposed to develop in the middle of the diaphragm does not form correctly.

A congenital diaphragmatic hernia is caused by both genetics and environmental factors. It is thought that multiple genes from both parents, as well as a number of environmental factors that scientists do not yet fully understand, contribute to diaphragmatic hernia.

A diaphragmatic hernia is a life-threatening illness. Since a diaphragmatic hernia allows abdominal organs to move into the chest cavity, the lungs do not have enough space to develop properly. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth because the baby is unable to take in enough oxygen to stay healthy. The intestines, when relocated in the chest, also may not develop properly, especially if they are not receiving enough blood supply while they are developing. A good blood supply is necessary for the intestines to develop correctly, and to be healthy and function properly.

Even if a congenital diaphragmatic hernia is not diagnosed prenatally your baby's physician will perform a physical examination. A chest X-ray is done to look for abnormalities of the lungs, diaphragm, and intestine. Other symptoms may be present that show if your baby has a diaphragmatic hernia:

Most babies with a congenital diaphragmatic hernia are transferred to a hospital with a neonatologist (specialist in newborn babies) and a pediatric surgeon (specialist in surgery of children). Specific treatment will be determined by your baby's physician based on many factors unique to your baby.

Babies with a congenital diaphragmatic hernia are usually unable to breathe effectively on their own because their lungs are underdeveloped. Most babies with CDH are placed on a breathing machine to help their breathing.

Infants with severe problems may need to be placed on a temporary heart/lung bypass machine called ECMO. ECMO is available at specialized centers and does the work that the heart and lungs would be doing: putting oxygen in the bloodstream and pumping blood to the body. ECMO may be used temporarily while a baby's condition stabilizes and improves.

When the baby's condition has improved, the diaphragmatic hernia will be repaired with an operation. The surgery to repair the diaphragm is not an emergency and it is important that your baby is as stable as possible before surgery; this may take days to weeks.

At the time of surgery the stomach, intestine, and other abdominal organs are moved from the chest cavity back into the abdominal cavity(Figure: B). The hole in the diaphragm is repaired with sutures (stitches) and may require the use of a piece of plastic or mesh(Figure: C). Although the abdominal organs will be in the right place after surgery, the lungs will still remain underdeveloped, and the baby will usually need to have breathing support for a period of time after the operation.

Babies born with a congenital diaphragmatic hernia can have long-term problems and often need regular follow-up after leaving the hospital. Many babies will have chronic lung disease and may require oxygen or medications to help their breathing for weeks, months, or years. Children with the most serious lung problems are most likely to have growing problems. Because of their illness, they often require more calories than a normal baby in order to grow and get healthier. These babies may require a feeding tube to provide the nutrition necessary for growth. Some babies with a congenital diaphragmatic hernia will have developmental problems. They may not roll over, sit, crawl, stand, or walk at the same time as healthy babies do. Physical therapy, speech therapy, and occupational therapy often help these babies gain muscle strength and coordination. As each child with a congenital diaphragmatic hernia is unique, consultation with your child's physician regarding the specifics of your child's care and prognosis is essential.