A diaphragmatic hernia occurs when a hole in the diaphragm allows organs to move from the abdomen into the chest cavity. This movement can put pressure on the lungs and make breathing difficult.
Most cases of diaphragmatic hernia are diagnosed in infants and are due to a birth defect. However, traumatic injuries can cause diaphragmatic hernias in adults.
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What Is a Diaphragmatic Hernia?
A diaphragmatic hernia occurs when a hole in the diaphragm — the muscle that separates the abdomen from the chest — allows organs to move from the abdomen into the chest cavity. This movement can put pressure on the lungs and make breathing difficult.
Diaphragmatic hernias are either acquired or congenital.
Acquired diaphragmatic hernias occur in older children or adults due to a traumatic injury. These are rare but serious, and they require urgent surgery to repair.
Although diaphragmatic hernias and hiatal hernias both involve the diaphragm, they are different conditions with different treatment plans and outcomes.
Congenital diaphragmatic hernias are due to birth defects. They are diagnosed either before birth on an ultrasound or in newborns who have trouble breathing.
A small percentage of congenital diaphragmatic hernias are caused by mutated genes or chromosomal abnormalities. In most cases, though, it isn’t clear what causes the hernia. These hernias require surgery to repair. Most surgeries are done shortly after birth.
What are the types of diaphragmatic hernias?
Acquired diaphragmatic hernia
An acquired diaphragmatic hernia occurs when a traumatic injury, such as from a car accident, tears a hole in the diaphragm. Organs from the abdomen can then enter the chest through that hole, causing breathing, heart, or digestive issues. The condition is rare but serious and requires surgery to repair.
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia is a birth defect that causes a hole to form in the diaphragm. Organs from the abdomen can then enter the chest through that hole, preventing the lungs from developing fully.
About half of all newborns who have a diaphragmatic hernia also have other conditions, including defects of the brain, heart, and intestines.
Congenital diaphragmatic hernias are classified by their location:
- Bochdalek — This type of hernia affects the side or back of the diaphragm. About 80% to 90% of congenital diaphragmatic hernias are Bochdalek.
- Morgnani — This type of hernia affects the front of the diaphragm. It’s rare, making up about 2% of all congenital diaphragmatic hernias. It is also less likely to cause severe symptoms.
Other types of congenital diaphragmatic hernias, including the type where there is no diaphragm at all, are very rare.
How common are diaphragmatic hernias?
Both types of diaphragmatic hernias are rare. Congenital diaphragmatic hernias occur in about 2 of every 10,000 births.
What causes a diaphragmatic hernia?
Acquired diaphragmatic hernias often occur after traumatic injuries, such as those from a car accident.
Congenital diaphragmatic hernias are birth defects that typically occur:
- As part of another disorder — A small percentage of congenital diaphragmatic hernias develop as part of another disorder. Examples include Donnai-Barrow syndrome, Fryns syndrome, or Pallister-Killian mosaic syndrome. These syndromes are caused by mutated genes or chromosomal abnormalities and affect many parts of the body.
- Alongside other defects — About 25% of congenital diaphragmatic hernias are not due to a syndrome but happen alongside other defects, especially those of the brain, heart, and intestines. Researchers believe having multiple defects points to a disruption in development, but what caused that disruption isn’t clear.
- In isolation — About 50% of congenital diaphragmatic hernias develop in isolation, or without any other syndromes or defects. The cause isn’t clear.
Diaphragmatic hernia risk factors
Most congenital diaphragmatic hernias are not inherited and have no clear cause or risk factors. Most acquired diaphragmatic hernias occur after traumatic injuries, which are often unexpected.
Diaphragmatic hernia complications
Diaphragmatic hernia complications include:
- Breathing difficulties, including respiratory failure — If organs move into the chest, they can put pressure on the lungs and affect breathing. Infants may be born with lungs that aren’t fully developed, or they may have difficulty breathing immediately after birth. Adults may also experience respiratory issues.
- Strangulation — Strangulation is when a hernia gets incarcerated, or stuck, cutting off blood flow. This condition can lead to dead tissue or, if the intestine is strangulated, a bowel blockage. It is a life-threatening condition that requires emergency surgery.
How can I prevent diaphragmatic hernia?
You can't prevent a diaphragmatic hernia.
Mutated genes or chromosomal abnormalities cause a small percentage of congenital diaphragmatic hernias. About 80% of congenital diaphragmatic hernias are not inherited and have no clear cause or risk factors. Most acquired diaphragmatic hernias occur after traumatic injuries, which are often unexpected.
What Are the Signs and Symptoms of Diaphragmatic Hernia?
In congenital diaphragmatic hernia, signs include:
- An abnormal ultrasound before birth.
- Breathing difficulties in newborns.
- Cyanosis, or bluish skin due to lack of oxygen, in newborns.
- Rapid heart rate in newborns.
In acquired diaphragmatic hernia, signs include:
- Breathing difficulty.
- Chest pain.
- Digestive issues.
- Rapid heart rate.
- Traumatic injury.
When should I see a doctor about my diaphragmatic hernia symptoms?
Congenital diaphragmatic hernias are typically diagnosed before birth on an ultrasound or shortly after birth due to breathing difficulties. If you notice your infant is having trouble breathing or has bluish-colored skin, you need to see a doctor right away. This could be a life-threatening condition.
If you’ve experienced a traumatic injury, such as from a car accident, and have trouble breathing, chest pain, a rapid heart rate, or digestive issues, you should see a doctor right away. This kind of hernia can cause respiratory failure or an intestinal blockage. Both of these complications are life-threatening conditions.
How Do You Diagnose Diaphragmatic Hernia?
Medical providers may suspect diaphragmatic hernia due to symptoms like breathing issues or a rapid heart rate. However, the only way to confirm the diagnosis is with imaging.
In acquired diaphragmatic hernia, which usually happens after trauma, the hernia may not be the primary concern. Imaging is often delayed until after other life-threatening injuries are assessed or treated.
Tests to diagnose diaphragmatic hernia
- Blood test — In newborns, doctors may order two types of blood tests. The first, called an arterial blood gas, helps to determine how well the baby is breathing. The second checks to see if the hernia is due to a mutated gene or abnormal chromosomes.
- CT scan or x-ray — These painless and noninvasive imaging tests provide detailed pictures of the chest and abdomen. This allows doctors to see abnormalities. In infants, underdeveloped lungs or lungs that are pushed to the side are tell-tale signs of a diaphragmatic hernia.
- Ultrasound — A noninvasive imaging test that uses sound waves to create pictures of the inside of the body. Doctors can often detect a congenital diaphragmatic hernia on an ultrasound. Early detection allows them to plan for necessary treatment. An ultrasound of the heart, called an echocardiogram, can also be done after birth to check your baby's heart function.
How Do You Treat Diaphragmatic Hernia?
Breathing treatments for diaphragmatic hernia
Infants with diaphragmatic hernias have underdeveloped lungs or trouble breathing. They will typically need to spend time in the neonatal intensive care unit (NICU).
In the NICU, doctors may use the following machines to help them breathe:
- Extracorporeal membrane oxygenation (ECMO) — If the infant is having severe breathing problems, doctors may use an ECMO machine. This machine temporarily does the work of the lungs and heart. It gets oxygen into the bloodstream and pumps blood throughout the body.
- Ventilator — Infants with underdeveloped lungs often need help from a ventilator until their lungs are fully formed. This breathing machine pushes oxygen into the lungs and removes carbon dioxide from the lungs.
Surgery for diaphragmatic hernia
Surgery is the only way to repair a diaphragmatic hernia.
Typically, doctors will use one of two surgical methods to repair the diaphragm:
- Laparoscopic surgery — A type of minimally invasive surgery. The surgeon will make several small incisions in the abdomen and use tiny instruments and a camera to repair the diaphragm. Laparoscopic surgery usually means less pain and faster healing time.
- Open surgery — Large or more complicated hernias may require open surgery. In this type of surgery, surgeons make one long incision in the abdomen to repair the diaphragm.
What happens during surgery for diaphragmatic hernia?
Most hernia surgeries are done in a hospital under general anesthesia. If surgery is scheduled, you may need to stop eating, drinking, and taking certain medications in the hours before your surgery.
However, diaphragmatic surgery is often urgent. Infants who are well enough will have surgery right away to take pressure off the lungs and allow them to fully develop. Adults who have acquired diaphragmatic hernia often have other serious injuries that need to be treated as well.
During surgery, the doctor will:
- Push the organs back into the abdomen.
- If the hole in the diaphragm is small, doctors can stitch it closed.
- If the hole in the diaphragm is large, doctors will need to use surgical mesh to help separate the chest and abdominal cavities.
Infants who have a diaphragmatic hernia will likely need to spend time in the NICU before and after surgery.
For adults who have diaphragmatic hernia surgery, the length of your hospital stay will depend on the extent of your injuries and your overall health.
You should call your doctor right away if you experience any of these symptoms after your hernia surgery:
- Abdominal pain and swelling.
- Continuous vomiting.
- Fever.
- Foul-smelling or pus-like drainage from your incision.
- No bowel movement after two to three days.
- Pain that gets worse and cannot be controlled with medication.
- Swelling, redness, or bleeding near the incision site.
Is hernia surgery the right treatment for my diaphragmatic hernia?
Surgery is the only way to repair a diaphragmatic hernia. The surgery can be urgent in infants who are having trouble breathing and in adults who have sustained a traumatic injury.
How long does it take to recover after surgery for diaphragmatic hernia?
Depending on your overall health and the type of surgery you received, recovery can take two to six weeks. Your doctor will give you specific postoperative instructions. Infants will likely need to stay in the NICU until their lungs are fully developed and strong.
What is the survival rate for diaphragmatic hernia?
Diaphragmatic hernia is a life-threatening condition. Treatments for congenital diaphragmatic hernias are improving. The survival rate is between 65% and 80% depending on the severity.
Because acquired diaphragmatic hernia is typically the result of a traumatic injury and can lead to complications, the mortality rate is about 30%.
Why Choose UPMC for Hernia Surgery?
At UPMC, we provide expert care for diaphragmatic hernias. You can expect:
- Access to new and innovative treatment — Nearly all our surgeons take part in clinical or laboratory research. Their discoveries ensure that patients receive the latest treatments using the most advanced techniques.
- Expert doctors — Our multidisciplinary team of surgeons and specialists is available around the clock to consult, diagnose, and treat patients with the most advanced care available. All our surgeons are certified by the American Board of Surgery. Many are nationally renowned for the comprehensive care they provide patients.
- Care close to home — At UPMC, we provide care to patients at more than 40 hospitals and 800 outpatient care sites in Pennsylvania, New York, and Maryland. That means you never have to travel far to receive the world-class care you need.
