Congenital Diaphragmatic Hernia Symptoms & Causes

What is a congenital diaphragmatic?

The diaphragm is a thin layer of muscle and tissue that separates the chest and abdominal cavity. It is the muscle that the body uses to breathe. When your child has a congenital diaphragmatic (CDH), it means that there’s a hole in that layer—or, rarely, that the diaphragm is missing altogether.

What happens when my child has a congenital diaphragmatic?

  • The contents of your child's abdomen, including the stomach, intestines, liver and spleen may go through the hole and into his chest.
  • This prevents the normal development of the lung on that side, and may also affect the growth of the other lung. And when your child’s lungs don’t fully develop, he will have trouble breathing after he is born. 

What are the different types of congenital diaphragmatic?

 There are two kinds of CDH: 

  • A Bochdalek hernia is a hole in the back of the diaphragm. Ninety percent of CDHs are this type.
  • A Morgagni hernia involves a hole in the front of the diaphragm.  

How serious is a congenital diaphragmatic?

A CDH is a serious, life-threatening condition. But because of advances in treatment, the outlook for babies born with a CDH has greatly improved. The doctors at Boston Children’s treat a number of children with a CDH each year—and have had great success in doing so.

Congenital diaphragmatic causes

While we don’t know exactly what causes a CDH, scientists believe that multiple genes from both parents—as well as a number of environmental factors that we do not yet fully understand—contribute to diaphragmatic hernia. 

When the organs from the abdomen prevent the lungs from growing, the poor lung growth is called pulmonary hypoplasia. Healthy lungs have millions of small air sacs (alveoli), each of which resembles a balloon filled with air. With pulmonary hypoplasia: 

  • There are fewer air sacs than normal
  • The air sacs that are present are only able to partially fill with air
  • The air sacs deflate easily because of problems with a lubricating fluid called surfactant 

When this happens, your baby is unable to take in enough oxygen to stay healthy.

Congenital diaphragmatic signs and symptoms

Each child may experience symptoms differently, but possible symptoms of a Bochdalek diaphragmatic hernia may include: 

  • difficulty breathing
  • fast breathing
  • fast heart rate
  • cyanosis (blue color of the skin)
  • abnormal chest development, with one side being larger than the other
  • abdomen that appears caved in 

A baby born with a Morgagni hernia may or may not show any symptoms.

Complications associated with congenital diaphragmatic

Complications of a CDH may include: 

  • Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect. Almost 20 percent have a congenital heart defect.
  • Chronic lung disease: This serious condition can require your child to have oxygen or medications after being discharged from the hospital.
  • Gastroesophageal reflux: This is a condition in which acids and fluids from the stomach move up to the esophagus and can cause heartburn, vomiting, feeding or lung problems. It can be controlled with medications, and sometimes with surgery.
  • Underdeveloped intestines: If your child’s intestines have moved into the chest cavity, they also may not develop properly, especially if they do not receive enough blood while they are developing. This, however, is a very rare complication.
  • Failure to thrive: Children with the most serious lung problems are most likely to have growth problems.
    • Because of their illness, they often require more calories than a normal baby in order to grow and get healthier.
    • Gastroesophageal reflux can also cause feeding problems. 
  • Developmental delays: These include delays in the ability to roll over, sit, crawl, stand or walk. Your baby will almost always reach these milestones, just usually at an older age than most children.
    • Physical therapy, speech and occupational therapy can often help your baby gain muscle strength and coordination.
  • Hearing loss: A hearing test will be performed prior to your baby leaving the hospital.

Congenital diaphragmatic long-term outlook

A child born with a CDH may need long-term follow-up care. Your child will receive ongoing treatment from a multidisciplinary team of pediatric physicians, nurses and other care providers.