What to Know About Diaphragmatic Hernia

A diaphragmatic hernia is a hole in your diaphragm, the muscle located below the lungs that helps you inhale and exhale.

When this type of hole occurs, it allows part of the organs from your belly to move into the chest cavity near your lungs. The problem can cause severe breathing problems. Without treatment, it can threaten your life.

This problem often occurs as a congenital condition (present at birth), so it most often affects newborns. Less often, it can impact children or adults due to severe trauma. Surgery is the most common treatment.

This article describes diaphragmatic hernia causes, symptoms, diagnosis, treatment, and outlook.

Types of Diaphragmatic Hernia

A diaphragmatic hernia can be either congenital or acquired later in life. These hernias are further classified based on their location within the diaphragm. They include the following types:

• Bochdalek hernia: A Bochdalek hernia usually involves an opening on the left side or back of the diaphragm. When this occurs, your stomach, spleen, liver, and/or intestines usually move up into the chest cavity. It represents about 90% of congenital diaphragmatic hernias.
• Morgagni hernia: A Morgagni hernia involves an opening on the right or front of your diaphragm, with minimal effect on lung development. It usually causes the liver and/or intestines to move into your chest cavity.
  

Diaphragmatic Hernia Symptoms

A diaphragmatic hernia can cause symptoms that vary by individual and the type of hernia that occurs.

Symptoms of a Bochdalek hernia appear soon after birth and can include the following:

• Unexplained severe difficulty breathing
• Tachypnea (rapid breathing in which your lungs try harder to get oxygen to your body)
• Tachycardia (rapid heart rate in which the heart works harder to get oxygen to your body)
• Bowel sounds in the chest as a result of the intestines moving into the chest cavity
• Cyanosis (blue, gray, or purple skin color)
• Abnormal chest development, such as one side of the chest being larger than the other
• An abdomen that appears concave (curving inward)
• Diagnosis of atelectasis (a collapsed lung)
• Diagnosis of excessive amniotic fluid during pregnancy
• Severe problems involving eating or keeping food down
• One side of the chest notably larger than the other

These symptoms may also occur with acquired diaphragmatic hernia.

Symptoms of a Morgagni diaphragmatic hernia may or may not appear immediately. The problem can cause nonspecific symptoms that could be due to other conditions as well, such as dyspepsia (indigestion) or excess flatulence in adults. If the problem becomes severe, it can cause bowel obstruction.

What Causes Diaphragmatic Hernia?

The causes of a diaphragmatic hernia vary by type.

Congenital Diaphragmatic Hernia

There is no known cause of congenital diaphragmatic hernias, which occur as a birth defect in infants. While the infant's diaphragm is still developing, organs such as the stomach, spleen, small intestine, liver, or kidney may take up part of the chest cavity. Having a parent or sibling with the condition increases an infant’s risk of having it.

Researchers believe that the condition may be related to abnormalities in the genes of affected infants. They may be linked to genetic conditions like Down syndrome (trisomy 21) and congenital heart disease.

In the United States, diaphragmatic hernias occur in about 1 in every 36,000 babies. About 30% to 50% of those born with the condition also have birth defects that affect other organs, such as their brain, heart, or intestines.

The problem usually involves only one side of the diaphragm, which is usually the left side. The affected side's lung tissue and blood vessels also remain underdeveloped, but it's unknown if one problem causes the other.

Acquired Diaphragmatic Hernia

Though rare, a diaphragmatic hernia can be acquired in an older child or adult. It is often the result of severe trauma or injury caused by one of the following:

• Motor vehicle accident
• Struck by a car
• Falls that injure your diaphragm
• Stab wounds

A diaphragmatic hernia is often linked to multiple traumatic injuries. About 50% of those affected have additional intra-abdominal injuries. Multiple injuries can often make it hard to diagnose a diaphragmatic hernia caused by trauma.

Diagnosis

Diagnosis of a congenital diaphragmatic hernia is often accomplished before the baby is born. It is frequently found during a routine ultrasound.

Your healthcare provider may use one of the following tests to diagnose a problem that looks like a congenital diaphragmatic hernia during pregnancy:

• Targeted ultrasound to evaluate the unborn baby for signs of a congenital diaphragmatic hernia
• Fetal magnetic resonance imaging (MRI) to evaluate the abdomen, chest, and lung growth, which can help identify the severity of a congenital diaphragmatic hernia and other abnormalities
• Fetal echocardiogram (an ultrasound of the baby's heart) to identify any existing heart defects

When a congenital diaphragmatic hernia isn't diagnosed during pregnancy, the following tests may be done immediately after birth to diagnose symptoms such as labored breathing:

• Chest X-ray to look for the source of breathing problems, such as abnormalities of the diaphragm, lungs, and intestine
• Echocardiogram
• Arterial blood gas (ABG), a blood test to determine your baby's breathing ability
• Blood tests for chromosomes to identify an existing genetic problem

Diagnosis of an acquired diaphragmatic hernia is usually made with an imaging test of the abdomen and pelvis, using the following:

• Ultrasound
• Computed tomography (CT) scan
• MRI
  

Treatment

Congenital and acquired diaphragmatic hernias usually require urgent surgery using open or minimally invasive techniques. Surgery is done to repair the opening in the diaphragm and return the misplaced abdominal organs to their proper position.

After surgery, an infant typically requires breathing support. This may include the temporary use of extracorporeal membrane oxygenation (ECMO), a heart/lung bypass machine, to ensure the baby receives an adequate oxygen supply as they heal.

Treatment of a congenital diaphragmatic hernia varies based on an infant's unique needs. The primary determining factor in treatment is the development of the infant's lungs. Other factors, including their symptoms, additional congenital conditions, and general health, can affect their treatment.

Prognosis

The prognosis (expected outcome) of a congenital diaphragmatic hernia depends on your baby's lung development. With this condition, your baby's heart, lungs, and abdominal organs may be displaced in the chest cavity. This typically results in pulmonary hypoplasia (underdeveloped lungs).

In the United States, advances have allowed up to 70% to 92% of infants with a congenital diaphragmatic hernia to survive. Ongoing problems with breathing, feeding, development, and growth are likely.

Coping

A baby born with this condition will typically receive treatment and postsurgical care in a neonatal intensive care unit (NICU). After recovery, they may need the following types of support for weeks, months, or years, depending on their overall health and the presence of other abnormalities:

• Breathing support
• Oxygen and medication to support normal breathing
• Treatment for pulmonary hypertension (poorly developed blood vessels in your lungs)
• Feeding tube
• Nutritional support for failure to thrive (trouble growing)
• Physical therapy, speech therapy, and occupational therapy due to developmental delays
• Support for hearing loss, common with this condition

Managing the demands of caring for a child with a chronic condition can be overwhelming. If you are the parent of a baby with this condition, you may benefit from an online or in-person support group in which you can talk to other parents with chronic conditions.

Summary

A diaphragmatic hernia typically occurs as a birth defect. It is a hole in your diaphragm. Damage to this muscle hinders lung growth as the baby matures in the womb.

The issue allows part of your abdominal organs to move into the chest cavity. As these organs become displaced, it can also hinder the normal function of your lungs, heart, or intestines. This makes the problem a medical emergency that requires prompt treatment.

While the problem mainly involves newborns, it can also affect older children and adults. In these cases, it often occurs as a result of trauma. Treatment requires surgery to repair the hole. The organs are also returned to their proper places.