A diaphragmatic hernia (DH) occurs when there is an opening in the diaphragm, the muscular sheet that separates your chest cavity from your abdomen. This condition is often congenital (present at birth), but it can also develop later in life in both children and adults. Symptoms arise when abdominal organs push into the chest cavity through the hole in the diaphragm.

The exact cause of diaphragmatic hernias remains unclear, though certain factors, such as birth defects, can increase the risk. Congenital diaphragmatic hernia (CDH) affects about one in 3,600 newborns in the U.S., while acquired diaphragmatic hernia (ADH) is rarer.

Diaphragmatic hernias can primarily affect lung development and functioning. Breathing difficulties are common, and treatment typically involves surgery to prevent serious complications.

Types of Diaphragmatic Hernia

Diaphragmatic hernias are categorized based on whether they are congenital or acquired. They are also classified according to the part of the diaphragm that is affected.

Bochdalek Hernia

Bochdalek hernias make up about 90% of congenital diaphragmatic hernias and typically occur on the side or back of the diaphragm. They allow abdominal organs like the intestines and stomach to push into the chest cavity. Bochdalek hernias most commonly affect the left side (85%), with fewer occurring on the right side (10%), and both sides (5%).

Morgagni Hernia

Morgagni hernias are rare, accounting for 2-5% of congenital diaphragmatic hernias. These hernias occur in the front of the diaphragm, near the sternum. They primarily affect the right side of the diaphragm.

Hiatal Hernia

A hiatal hernia happens when part of the stomach pushes into the chest cavity through the diaphragm’s opening (the hiatus) that allows the esophagus to pass through. This type of hernia can be either congenital or acquired.

Traumatic Diaphragmatic Hernia (TDH)

A traumatic diaphragmatic hernia is caused by physical trauma, such as blunt force (e.g., from a car accident) or penetrating trauma (e.g., gunshot or stab wound). This type of hernia involves a tear in the diaphragm, allowing abdominal organs to move into the chest cavity.

Diaphragmatic Hernia Symptoms

Symptoms of diaphragmatic hernias vary in severity and often depend on the hernia’s type and location. Some hernias may be asymptomatic for years before symptoms develop.

Breathing Symptoms

Diaphragmatic hernias mainly affect breathing, and common symptoms include:

  • Difficulty breathing

  • Rapid breathing

  • Elevated heart rate

  • Reduced appetite

  • Chest pain

  • Bluish skin color (in infants)

Newborns with congenital diaphragmatic hernia often experience respiratory distress within the first few hours of life, with symptoms ranging from mild to life-threatening.

Gastrointestinal Symptoms

Diaphragmatic hernias can also affect the digestive system. Common symptoms include:

  • Abdominal pain

  • Feeling of fullness after eating

  • Vomiting

  • Cramping

  • Gas

  • Constipation

Congenital diaphragmatic hernias may show symptoms after infancy.

Hiatal Hernia Symptoms

Hiatal hernias can cause acid reflux and other symptoms like:

  • Heartburn

  • Acid reflux

  • Regurgitation (stomach acid flowing into the mouth)

  • Chest or abdominal pain

  • Shortness of breath

  • Difficulty swallowing

  • Vomiting blood

  • Black stools

  • Feeling full soon after eating

Causes of Diaphragmatic Hernia

Diaphragmatic hernias occur when there is a hole or weak spot in the diaphragm. The diaphragm is a critical muscle that separates the chest from the abdomen, and when abdominal organs push through this weak spot, symptoms arise.

Congenital Diaphragmatic Hernia Causes

Most diaphragmatic hernias are congenital, meaning they are present at birth. In congenital diaphragmatic hernia (CDH), the diaphragm doesn’t fully form during fetal development. The exact cause of CDH is unknown, but gene abnormalities may be a contributing factor, though over 80% of CDH cases do not show genetic defects.

Acquired Diaphragmatic Hernia Causes

Acquired diaphragmatic hernias (ADH) are rarer and often caused by physical trauma to the abdomen, which leads to increased pressure and tearing of the diaphragm. These hernias can also result from abdominal surgery, though this is less common.

Risk Factors

Several factors increase the risk of developing a diaphragmatic hernia, including:

  • Other birth defects affecting the heart, blood vessels, or digestive system

  • Conditions like Donnai-Barrow syndrome, Fryns syndrome, or Pallister-Killian mosaic syndrome, which are linked to CDH

  • Pregnancy over the age of 35

  • Diabetes or hypertension before pregnancy

  • Vitamin B2 (riboflavin) supplementation during pregnancy

  • Alcohol intake during pregnancy

  • Family history of diaphragmatic hernia

Diagnosis of Diaphragmatic Hernia

A diaphragmatic hernia is usually diagnosed by a primary care physician through physical exams and diagnostic tests. In infants, doctors may look for signs like irregular chest movements, absent breath sounds on one side of the chest, and abnormal bowel sounds in the chest.

Diagnostic tests can include:

  • CT scan: Detailed imaging using X-rays.

  • Chest radiograph: X-ray to examine the chest cavity.

  • Fetal ultrasound: Used in prenatal cases to detect CDH.

  • Fetal MRI: Provides 3D imaging of affected areas in the fetus.

  • Genetic testing: Identifies genetic markers in prenatal or postnatal cases.

Treatment of Diaphragmatic Hernia

Surgery is the primary treatment for diaphragmatic hernias. For congenital cases, surgery is usually performed shortly after birth to prevent lung malformation. Various surgical options are available:

  • Open Hernia Repair: Surgeons access the hernia site via an incision in the chest to close the hole.

  • Mesh Repair: For more extensive cases, mesh may be used to support the diaphragm wall.

  • Laparoscopic Hernia Repair: A minimally invasive approach for smaller, contained hernias.

Respiratory Support

Newborns with diaphragmatic hernia may need respiratory support, including intubation or heart-lung bypass, until the hernia is treated.

Prevention

Most diaphragmatic hernias cannot be prevented. However, prenatal genetic screening and imaging can help detect this condition in developing fetuses, allowing for early preparation.

For hiatal hernias, you can reduce the risk by avoiding triggers like acidic foods, alcohol, and spicy or fatty foods. Smaller, more frequent meals, avoiding smoking, and avoiding alcohol also help.

Complications

Untreated diaphragmatic hernias can lead to serious complications like:

  • Diaphragmatic rupture: Tearing of the diaphragm.

  • Intestinal obstruction: Blockage of the intestines due to hernia.

  • Respiratory failure: Lung compression leading to difficulty breathing.

  • Strangulation: Reduced blood supply to abdominal organs causing infection.

  • Cardiac tamponade: Fluid buildup around the heart causing compression.

A Quick Review

A diaphragmatic hernia is an opening in the diaphragm that allows abdominal organs to push into the chest cavity, leading to symptoms like breathing difficulties. Congenital diaphragmatic hernias are often diagnosed in newborns, while acquired hernias are caused by physical trauma. Surgery is the primary treatment, and while prevention is difficult, prenatal testing can help detect the condition early.