Definition

The diaphragm is a convex-shaped muscle that separates the thoracic and abdominal cavities. The diaphragm provides a partition between the heart and lungs on one side and the abdominal organs, including the stomach, intestines, spleen, and liver, on the other side.

A diaphragmatic hernia is characterized by protruding one or more abdominal organs into the thoracic cavity through a diaphragmatic fissure or cavity. This cavity may manifest congenitally or develop later in life. A diaphragmatic hernia is an absolute medical emergency that necessitates immediate surgical intervention.

In the United States, approximately 1 in 3,600 infants is born with a diaphragmatic hernia. Approximately 50% of neonates with diaphragmatic hernias develop additional defects, such as congenital malformations of the brain, heart, and intestines.

Causes

Diaphragmatic hernias are classified into two categories: congenital diaphragmatic hernias (CDH) and acquired diaphragmatic hernias (ADH), based on the underlying condition and the formation period. CDH occurs at birth, whereas ADH develops later in life.

The inappropriate development of the diaphragm during pregnancy is the cause of congenital diaphragmatic hernia. An organ or organs from the abdominal cavity (such as the spleen, pancreas, intestines, or stomach) migrate into the chest and replace the lungs due to a birth defect of the diaphragm. This leads to hypertension and improper lung development. Diaphragmatic hernias typically impact a single lung.

Adults often develop acquired diaphragmatic hernias after suffering a sharp or blunt trauma. Most cases of blunt trauma occur as a result of falls or traffic accidents. On the other hand, wounds produced by sharp objects are typically gunshots or stabs. The diaphragm is another organ that might sustain unintended harm during abdominal or chest surgeries. It is extremely unusual for diaphragmatic hernias to have an obvious etiology and to continue undetected for an extended period until they become sufficiently severe to result in symptoms.

Risk Factor

Most congenital diaphragmatic hernias are idiopathic, meaning the specific cause is uncertain. Multiple factors are considered to contribute to congenital diaphragmatic hernia. Hernias are formed due to chromosomal and genetic abnormalities, exposure to environmental causes, and nutrient deficiencies. Diaphragmatic hernias can coexist with associated organ pathologies, including defects in the cardiac, gastrointestinal, or genitourinary systems.

Acquired diaphragmatic hernia risk factors include:

• Trauma from vehicular crashes
• Surgical interventions on the chest or stomach
• Falls involving the diaphragm area
• Stab wound
• Gunshot wound

Symptoms

The severity of diaphragmatic hernia symptoms varies based on the size and etiology of the hernia and the organs affected. The following symptoms are included:

• Respiratory distress results from atypical lung formation. In cases of acquired diaphragmatic hernia, respiratory distress arises due to impaired lung expansion during respiration. This respiratory condition arises due to the suppression of lung function by the abdominal organs
• Tachypnea, characterized by rapid breathing, results from the lungs attempting to compensate for low amounts of oxygen in the body by increasing their work rate
• Cyanosis, characterized by a blue skin color, arises when the body experiences insufficient oxygenation from the lungs
• Tachycardia, characterized by an increased heart rate, occurs due to insufficient oxygen levels, prompting the heart to increase its pumping rate above the normal range

Diagnosis

A prenatal diagnosis of a congenital diaphragmatic hernia is normally possible. An estimated 50 percent of cases are detected through a pregnancy ultrasound (USG) examination. Lung disorders and abnormalities of the fetal diaphragm, along with an increase in the volume of amniotic fluid (the fluid that envelops and protects the infant) within the maternal womb, can be detected via ultrasound.

The following symptoms and abnormalities may be detected during a postnatal physical examination:

• Abnormal bowel movements
• Difficulty of breathing and noticeable effort to breathe from the chest wall movement
• Cyanosis
• Loss of breath sounds on one side of the chest
• Bowel sounds were heard in the chest
• Manual examination of the stomach to assess for the absence of fullness

Other tests that can also be carried out to support the diagnosis of a diaphragmatic hernia are:

• Imaging examination with X-rays, chest and abdominal ultrasound, CT (Computed Tomography) scan, and MRI (Magnetic Resonance Imaging)
• Arterial blood gas tests to check oxygen, carbon dioxide and acidity (pH) levels in the body

Management

Both congenital and acquired diaphragmatic hernias necessitate prompt surgical intervention. A surgical intervention is necessary to extract the abdominal organs from the chest cavity and reposition them back into the abdominal cavity. Subsequently, the surgeon will proceed to rectify the malformed diaphragm.

During congenital diaphragmatic hernia (CDH), the surgeon will promptly do the surgical procedure within a timeframe of 48–72 hours following the birth of the infant. Surgery may be performed sooner in emergencies, but in specific circumstances, it may be delayed. Initially, it is imperative to stabilize the infant and enhance its oxygenation levels. Several pharmaceuticals and methodologies are used to stabilize the infant and facilitate respiration. The infants should receive care in the Neonatal Intensive Care Unit (NICU), a specialized area for newborns requiring careful attention and supervision. After the baby's condition has stabilized, surgery can be performed.

Before surgery, it is imperative to stabilize the patient with ADH. Given that the majority of ADH cases stem from injury, it is possible for further complications to arise, including internal organ bleeding, which is considered a critical situation. Hence, it is imperative to expedite the surgical procedure.

Complications

Diaphragmatic hernia repair surgery is associated with several problems. Possible postoperative complications include recurrent pulmonary hypertension (elevated blood pressure in the lungs) and impaired respiratory function and gas exchange. CDH recurrence is a rare but possible complication that can happen after a diaphragmatic hernia repair. Other complications include stomach fluids and blood leaking into the chest and the development of hydrothorax, which is an abnormal buildup of fluid in the pleural cavity around the lungs. Obstruction of the small intestine can also arise from the intestine undergoing adhesion or torsion.

Prevention

There is currently no prevention against CDH during pregnancy. Regular prenatal examinations are crucial for identifying potential health complications in the embryo before delivery. This facilitates appropriate preparation and attention before, during, and after childbirth.

Some prevention strategies against ADH include:

• Use a seat belt and drive carefully
• Avoid intense sports that can cause chest or blunt abdominal injuries
• Avoid drinking and drugs, which increase accident risk
• Be careful with knives and scissors

When to See a Doctor?

If you have diaphragmatic hernia symptoms, see a doctor. Proper and immediate treatment may enhance recovery and prevent further complications.

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