The diaphragm is a dome-shaped muscular barrier between the chest and abdominal cavities. It separates your heart and lungs from your abdominal organs (stomach, intestines, spleen, and liver).
A diaphragmatic hernia occurs when one of your abdominal organs moves upward into your chest through a defect (opening) in the diaphragm. This kind of defect can be present at birth or acquired later in life. It’s always a medical emergency and requires prompt surgery to correct.
A congenital diaphragmatic hernia (CDH) is due to the abnormal development of the diaphragm while the fetus is forming. A defect in the baby’s diaphragm allows one or more of their abdominal organs to move into the chest and occupy the space where their lungs should be. As a result, the baby’s lungs can’t develop properly. In the majority of cases, this affects only one lung.
An acquired diaphragmatic hernia (ADH) is usually the result of a blunt or penetrating injury. Traffic accidents and falls cause the majority of blunt injuries. Penetrating injuries are usually due to stab or gunshot wounds. Surgery on the abdomen or chest may also cause accidental damage to your diaphragm.
Most congenital diaphragmatic hernias are idiopathic; their cause is unknown. However, chromosomal abnormalities have been implicated in about 30 percent of cases.
The following factors may increase your risk of an acquired diaphragmatic hernia:
- blunt injuries due to a traffic accident
- surgical procedures on the chest or abdomen
- falls that impact the diaphragm region
- stab wounds
- gunshot wounds
The symptoms of a diaphragmatic hernia vary depending on its cause and severity.
This is usually very severe. In a CDH, it results from the abnormal development of the lungs. In an ADH, it occurs when the lungs can’t function properly.
Blue Discoloration of the Skin
When your body doesn’t receive enough oxygen from your lungs, it can make your skin appear blue (cyanosis).
Tachypnea (Rapid Breathing)
Your lungs may try to compensate for the low levels of oxygen in your body by working at a faster rate.
Tachycardia (Rapid Heart Rate)
Your heart may pump rapidly to try to supply your body with oxygenated blood.
Diminished or Absent Breath Sounds
This symptom is normally present in the case of a CDH because one of the baby’s lungs may not have formed properly. The breath sounds on the affected side will be absent or very difficult to hear.
Bowel Sounds in the Chest Area
This occurs when your intestines move up into your chest cavity.
Less Full Abdomen
Your abdomen may feel less full than it should upon palpation (an examination of the body by pressing on certain areas).
Doctors can usually diagnose a congenital diaphragmatic hernia before the baby is born. An ultrasound examination may reveal the abnormal position of the abdominal organs in the fetus. The pregnant mother may also have an increased amount of amniotic fluid (the fluid that surrounds and protects the fetus).
After birth, the following abnormalities may appear during a physical examination:
- abnormal chest movements
- difficulty breathing
- absent breath sounds on one side of the chest
- bowel sounds in chest
- a “half empty” feeling abdomen
The following tests are usually sufficient to diagnose both a CDH and an ADH:
- ultrasound scan (uses sound waves to produce images of the thoracic and abdominal cavities and their contents)
- CT scan (allows for direct viewing of the abdominal organs)
- arterial blood gases (takes blood directly from an artery and tests for levels of oxygen, carbon dioxide, and acidity, or pH level)
Both congenital and acquired diaphragmatic hernias are surgical emergencies. Surgery must be performed to remove the abdominal organs from the chest and place them back into the abdomen. The surgeon will then repair the diaphragm.
In a CDH, surgeons will ideally perform surgery 24 to 48 hours after the baby is delivered. The first step is to stabilize the baby and increase its oxygen levels. The surgeon will perform an endotracheal intubation by inserting a tube into the mouth and down to the baby’s trachea (windpipe). The other side of the tube connects to a mechanical ventilator (breathing machine). Once the baby stabilizes, then surgery can occur.
In an ADH, the patient may also need to stabilize before surgery. Because most cases of ADH are due to injury, there might be other complications such as internal bleeding. Therefore, the surgery usually happens as soon as possible.
There is no way to prevent a CDH, but some basic preventive measures can help you avoid an ADH:
- Drive safely.
- Avoid activities that make you prone to blunt injuries to the chest or abdomen, such as contact sports.
- Exercise caution around sharp objects, such as knives and scissors.
The outlook for a diaphragmatic hernia depends on how damaged your lungs are. According to the Johns Hopkins Children’s Center, the survival rate for CDH is more than 80 percent. The survival rate for an ADH correlates directly with the type of injury and its severity.