What Is a Diaphragmatic Hernia?
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Medically reviewed by Jay N. Yepuri, MD
A diaphragmatic hernia (DH) is an opening in your diaphragm, the muscular sheet that separates your thoracic (chest) cavity from your abdomen. It's often a congenital condition (birth defect), but it can also develop in children and adults. Symptoms arise as abdominal organs push into your chest cavity through the hole.
The exact cause of this type of hernia are unknown. However, certain factors, like being born with other birth defects, increase your risk. Congenital diaphragmatic hernia (CDH) is rare, affecting about one in 3,600 newborns in the United States. Acquired diaphragmatic hernia (ADH) is even more rare.
A diaphragmatic hernia often affects lung development and functioning. Symptoms primarily involve breathing, though they vary from case to case. Treatment—typically surgery—is essential to preventing possibly serious complications.
Types
Diaphragmatic hernias are classified based on whether they're congenital (present at birth) or acquired. They are further categorized based on the part of the diaphragm that’s affected.
Bochdalek Hernia
Up to 90% of congenital diaphragmatic hernias develop on the side or back of the diaphragm. This type, known as Bochdalek or posterolateral hernia, allows abdominal organs like the intestines and stomach to move into the chest cavity. Approximately 85% of Bochdalek hernias affect the left side of the body, while 10% occur on the right. The remaining 5% occur on both sides.
Morgagni Hernia
Morgagni hernia is a rare type of hernia seen in about 2-5% of congenital diaphragmatic hernia cases. It’s characterized by an opening in the front of the diaphragm, to the side and back of the sternum (breast bone). It primarily affects the right side of the diaphragm.
Hiatal Hernia
The hiatus is the opening in the diaphragm that allows the esophagus (the tube that runs from your throat to your stomach) to pass through. A hiatal hernia occurs when the upper part of the stomach pushes into the chest cavity. It may be congenital or acquired.
Traumatic Diaphragmatic Hernia (TDH)
A traumatic diaphragmatic hernia is the most common type of acquired diaphragmatic hernia (ADH). It's caused by blunt trauma (for example, the forceful impact caused by a traffic accident) or penetrating trauma (such as a gunshot or knife wound). This causes a tear in the abdomen, which causes abdominal organs to move into the chest cavity.
Diaphragmatic Hernia Symptoms
Symptoms of a diaphragmatic hernia range in severity and can vary based on type. Some cases can be asymptomatic for years before symptoms develop.
Breathing Symptoms
Diaphragmatic hernias primarily affect breathing. The most common symptoms include:
Difficulty breathing
Rapid breathing
Elevated heart rate
Reduced appetite
Bluish color to the skin (in infants)
Newborns with CDH typically have respiratory distress within the first few hours after birth. It can range from mild to severe and life-threatening.
Gastrointestinal Symptoms
Diaphragmatic hernias can also affect the digestive system. Possible symptoms include:
Recurring abdominal pain
Postprandial fullness (a persistent and unpleasant feeling of fullness)
Vomiting
Congenital diaphragmatic hernia symptoms might develop after infancy.
Hiatal Hernia Symptoms
A hiatal hernia can cause stomach acid to flow back through the esophagus, causing symptoms like:
Heartburn
Regurgitation (when stomach acid flows back through your esophagus and into your mouth)
Chest or abdominal pain
Dysphagia (difficulty swallowing)
Vomiting blood
Feeling full soon after eating
Related: How To Know if You Have a Hernia
Causes
A diaphragmatic hernia occurs when there’s an opening or area weakness in the diaphragm. Your diaphragm is a band of tissue that separates your abdominal organs, including your stomach, intestines, and liver, from your chest cavity. Internal pressure causes these organs to push through the diaphragm, leading to symptoms.
Congenital Diaphragmatic Hernia Causes
Most diaphragmatic hernia cases are present at birth. With CDH, the diaphragm doesn’t fully form in the developing fetus as it normally does during the first 10 weeks of pregnancy. The exact causes of CDH are unknown, but gene abnormalities are believed to be a potential factor. However, more than 80% of people with CDH have no genetic abnormalities.
Acquired Diaphragmatic Hernia Causes
An acquired diaphragmatic hernia (ADH) is much more rare than CDH. It's most often caused by physical trauma to the abdomen, which results in increased abdominal pressure and tearing. Diaphragm injury occurs in up to 3% of blunt and penetrating abdominal traumas.
Acquired diaphragmatic hernias can also be iatrogenic, meaning they're caused by abdominal surgery. This is a significantly rarer cause of ADH.
Risk Factors
Several factors increase the risk of developing a diaphragmatic hernia, including:
Other birth defects, especially those that affect the heart and blood vessels, digestive system, or brain and spine
Conditions that affect multiple body systems, such as Donnai-Barrow syndrome (a condition characterized by particular facial features and often CDH), Fryns syndrome (a condition that affects many body parts, including the diaphragm), and Pallister-Killian mosaic syndrome (a condition characterized by birth defects like weak muscle tone and intellectual disability, as well as conditions like CDH)
Pregnancy over the age of 35
Diabetes (a chronic condition that occurs when you have elevated blood sugar) or hypertension (high blood pressure) before pregnancy
Vitamin B2 (riboflavin) supplements during pregnancy
Alcohol intake during pregnancy
Family history of diaphragmatic hernia
Related: Could You Be Doing Something To Cause a Hernia?
Diagnosis
Diaphragmatic hernias are usually diagnosed by a primary care physician. Your healthcare provider will need to rule out other potential causes of diaphragmatic hernia symptoms, including cancer or certain lung defects.
They will take your medical history and complete a physical exam. In cases affecting infants, healthcare providers look for physical signs like irregular chest movements, lack of breath sounds on the affected side of the body, bowel sounds in the chest, and a less prominent belly.
Healthcare providers might also use other diagnostic procedures and imaging tests, such as:
Computed tomography (CT) scan: This form of imaging relies on multiple X-ray images to create a detailed picture of the affected area.
Chest radiograph: This is a type of chest x-ray that helps evaluate the chest cavity.
Fetal ultrasound: Signs of CDH in a developing fetus can be seen using ultrasound screening, a form of imaging that uses sound waves to generate live images. This is typically done between the 18th and 22nd weeks of pregnancy.
Fetal magnetic resonance imaging (MRI) scan: This form of imaging relies on magnetic waves to create three-dimensional images of affected areas in a developing fetus.
Diagnostic surgery: In some cases, healthcare providers rely on minimally invasive laparoscopic surgery to diagnose. A laparoscope is a thin telescope with a light and a camera that helps the surgeon see inside your body.
Genetic testing: Healthcare providers might test samples of amniotic fluid (the fluid surrounding fetuses) in prenatal cases or blood in cases arising after birth for genetic markers.
Diaphragmatic Hernia Treatment
Surgery is the primary approach to treating a diaphragmatic hernia. In congenital cases, this needs to be done shortly after birth to prevent malformation of the lungs. There are several surgical options.
Open Hernia Repair
Open surgery is the most common approach to treating a diaphragmatic hernia. Under general anesthesia, surgeons access the site via an incision in the chest. They then use sutures (stitches) to close and repair the hernia.
Mesh Repair
Surgeons might use a specialized mesh to support the diaphragm walls. These are placed into position using surgery. More severe and extensive cases tend to require mesh, but it's not the standard method for most hernia repairs.
Laparoscopic Hernia Repair
The surgeon may consider a minimally invasive approach if the hernia is more contained and smaller. The surgeon will insert a laparoscope via a small incision in your abdomen and use specialized tools to access the area and sew it shut.
Respiratory Support
In infants with diaphragmatic hernia, the risk of breathing difficulty can lead to severe complications like lung infections. Newborns may need to be intubated and use a heart-lung bypass machine to breathe until the condition has been treated. This machine provides oxygen and blood to the body when the lungs aren't able to.
Related: What Do You Know About Hiatal Hernia Surgery?
Prevention
Most diaphragmatic hernias are not preventable. If you’re pregnant, make sure to keep up with appointments as well as nutritional recommendations. Genetic screening and prenatal imaging can detect cases in fetuses. Knowing in advance that your infant will have this condition can help you prepare.
You can reduce your risk of hiatal hernia. Recommendations include:
Avoid common triggers, including acidic foods like citrus fruits and juices, caffeine, alcohol, and spicy or fatty foods
Eat smaller, more frequent meals to avoid putting excess pressure on your abdomen
Avoid smoking and drinking alcohol
Related: Foods That Can Cause Acid Reflux
Complications
Untreated diaphragmatic hernias can lead to more serious, potentially life-threatening conditions as the lungs are compressed or internal organs lose blood supply. Possible complications include:
Diaphragmatic rupture: Internal pressure or abdominal trauma can cause significant tearing of the diaphragm.
Intestinal obstruction: A blockage in the intestines can cut off blood flow and cause symptoms like pain, cramping, nausea, and vomiting.
Respiratory failure: A hernia can cause part of the lung to become trapped. This is a condition known as lung incarceration. It can lead to respiratory failure, a serious condition that makes it difficult to breathe on your own.
Strangulation: Blood supply can get cut off from parts of abdominal organs that have been pushed into the chest cavity. Affected areas can start to die and cause infection.
Cardiac tamponade: This potentially fatal complication occurs when fluid builds up around the heart and compresses it.
A Quick Review
A diaphragmatic hernia occurs when there’s an opening in your diaphragm, a primary respiratory muscle that separates your chest cavity and your abdomen. Internal organs, such as the stomach, intestines, and liver, can push through the diaphragm. This can cause breathing difficulties and other symptoms.
Most diaphragmatic hernias are birth defects, but they can also be caused by physical trauma to the abdomen, as well as abdominal surgery. Surgery is required to avoid possibly life-threatening complications. Diaphragmatic hernias are not preventable, but genetic testing and imaging can help healthcare providers detect the condition.
Frequently Asked Questions
What is the survival rate for a diaphragmatic hernia?
A diaphragmatic hernia can become dangerous, especially in newborns or infants. Estimates of survival rates range considerably. Some research has found that CDH can be fatal in about 20%-60% of infants. However, other studies have found that 80-90% of infants with left-sided Bochdalek hernia (the most common type of CDH) survive.
Is a diaphragmatic hernia a disability?
Infants with CDH can face a number of debilitating health challenges. These primarily affect the lungs, which can become crowded as abdominal organs move into the chest cavity. Infants may face persistent breathing problems, as well as growth and developmental issues, and require assistance with nutrition and respiration. Diaphragmatic hernias are associated with delays such as crawling, sitting up, and rolling over by age two.
Is there a difference between a hiatal hernia and a diaphragmatic hernia?
Hiatal hernias and diaphragmatic hernias both affect the diaphragm. A hiatal hernia occurs around the hiatus—an opening in your diaphragm that allows the esophagus to pass through the diaphragm to the stomach. A hiatal hernia is sometimes considered a type of diaphragmatic hernia. However, “diaphragmatic hernia” often refers to congenital cases—the more common type that result from birth defects—whereas hiatal hernias are more often acquired.
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