Diaphragmatic Hernia: Causes, Symptoms, Risk Factors, Diagnosis, Treatment and Prevention

The diaphragm is a dome-shaped muscular barrier between the chest and the abdominal cavities.

Separates the heart and lungs of the abdominal organs (stomach, intestines, spleen, and liver).

A diaphragmatic hernia occurs when one or more of your abdominal organs move up into your chest through a defect (opening) in the diaphragm.

This type of defect may be present at birth or acquired later. It is always a medical emergency and requires immediate surgery to correct it.

What are the causes of a diaphragmatic hernia?

A congenital diaphragmatic hernia (HDC) is due to the abnormal development of the diaphragm while the fetus is being formed.

A defect in the diaphragm of the fetus allows one or more of your abdominal organs to move to the chest and occupy the space where your lungs should be.

As a result, the lungs can not develop properly. In most cases, this affects only one lung.


An acquired diaphragmatic hernia (HDA) is usually the result of a blunt or penetrating injury. Traffic accidents and falls cause the most wounds closed.

Penetrating injuries are usually due to stab wounds or gunshot wounds. Surgery in the abdomen or chest can also cause accidental damage to your diaphragm.

Rarely a diaphragmatic hernia can occur without a known reason and not be diagnosed for some time until it becomes severe enough to cause symptoms.

Which are the risk factors?

The majority of congenital diaphragmatic hernias are idiopathic; their cause is unknown. It is believed that a combination of several factors leads to its development.

Chromosomal and genetic anomalies, environmental exposures, and nutritional problems may play a role in forming these hernias.

It can also occur with other organ problems, such as abnormal heart, gastrointestinal or genitourinary development.

The following factors may increase your risk of an acquired diaphragmatic hernia:

  • Bruising injuries due to a traffic accident.
  • Surgical procedures in the chest or abdomen.
  • Falls that impact the diaphragm region.
  • Weapons wounds.
  • Bullet wounds.

What are the symptoms of a diaphragmatic hernia?

The severity of symptoms with a diaphragmatic hernia can vary according to its size, cause, and the organs involved.

Difficulty breathing: This is usually very severe. In an HDC, it results from the abnormal development of the lungs. In an HDA, it occurs when the lungs can not function properly due to aggregation.

Tachypnea (rapid breathing): Your lungs may try to compensate for the low oxygen levels in your body by working at a faster rate.

Blue discoloration of the skin: When your body does not get enough oxygen from your lungs, it can make your skin look blue (cyanosis).

Tachycardia (rapid heart rate): Your heart may pump faster than usual to supply oxygenated blood to your body.

Decrease or absence of breath: This symptom is expected in the case of an HDC because it is possible that one of the baby’s lungs has not formed correctly. The breathing sounds on the affected side will be absent or very difficult to hear.

Bowels in the chest area: This occurs when the intestines move into the chest cavity.

Less entire abdomen: Your abdomen may be less complete than on palpation (an examination of the body by pressing certain areas). This is because the abdominal organs are pushed up into the thoracic cavity.

How is it diagnosed?

Doctors can usually diagnose a congenital diaphragmatic hernia before the baby is born.

Approximately half of the cases are revealed during an ultrasound examination of the fetus. There may also be a more significant amount of amniotic fluid (the fluid that surrounds and protects the fetus) inside the uterus.

After birth, the following abnormalities may appear during a physical examination:

  • Abnormal movements of the chest.
  • Difficult breathing
  • Blue discoloration on the skin (cyanosis).
  • Absence of breath on one side of the chest.
  • The bowel sounds in the chest area.
  • An abdomen with a “half-empty” feeling.

The following tests are usually enough to diagnose an HDC or an HDA:

  • Bone scan.
  • Ultrasound (uses sound waves to produce images of the thoracic and abdominal cavities and their contents).
  • Computed tomography (CT) (allows direct visualization of the abdominal organs).
  • Arterial blood gas test (takes blood directly from an artery and tests oxygen, carbon dioxide, and acidity or pH level).

Treatment for diaphragmatic hernia

Both congenital and acquired diaphragmatic hernias generally require urgent surgery. The surgery must remove the abdominal organs from the chest and place them back in the abdomen. The surgeon will then repair the diaphragm.

With an HDC, surgeons can perform the surgery as early as 48 to 72 hours after the baby is born. Surgery may occur earlier in emergencies or may be delayed.

Each case is different. The first step is to stabilize the baby and increase his oxygen levels. A variety of medications and techniques are used to help stabilize the baby and help with breathing.

These babies are best served in a highly specialized Neonatal Intensive Care Unit (NICU) center. Once the baby is stabilized, it can be operated on.

With an HDA, the patient usually needs to be stabilized before surgery. Because most cases of UGIB are due to injury, there may be other complications, such as internal bleeding. Therefore, surgery should be performed as soon as possible.

How can it be prevented?

Currently, there is no known way to prevent HDC. Early and regular prenatal care during pregnancy is essential to help detect the problem before birth.

This allows for proper planning and care before, during, and after delivery.

Some basic preventive measures that can help you avoid an HDA include:

  • Drive safely and always wear a seat belt.
  • Avoid activities that make you prone to severe blunt injuries to the chest or abdomen, such as extreme sports.
  • Limiting alcohol consumption and avoiding drug use can increase the propensity for accidents.
  • Use caution with sharp objects, such as knives and scissors.

What is the long-term perspective for diaphragmatic hernia?

The prospects for an HDC depend on how damaged the lungs are and the severity of the involvement of other organs.

According to current research, the overall survival rate for congenital diaphragmatic hernias is 70 to 90 percent.

The survival rate of a UGIB directly correlates with the type of injury, the age, the general health of the individual and the severity of the hernia, depending on the size and other organs involved.