Diaphragmatic hernia is a birth disorder or defect that causes a hole (hernia) in the diaphragm of a baby. The diaphragm is a wide flat muscle, that’s main function is to help us breathe, but the diaphragm also acts as a physical barrier. It separates the contents of the chest (the throat, lungs, and heart) from the contents of the abdomen (the stomach, intestines, and liver). If there’s an abnormal opening in the diaphragm, this lets the abdominal contents (usually the intestines) migrate into the chest and cause negative effects. One of these negative effects is pulmonary hypoplasia, which means small, underdeveloped lungs. Babies born with pulmonary hypoplasia have difficulty breathing and may need to be intubated with a breathing tube right after birth.
Pulmonary hypoplasia and diaphragmatic hernia also cause a scaphoid abdomen shape, where the stomach region looks flatter than normal, and the chest region around the ribs and lungs looks thicker or more swollen than normal.
Although most cases of diaphragmatic hernia happen to newborn babies, occasionally a child or adult may develop it. In these older populations, diaphragmatic hernia is caused by injury, such as by a gunshot wound or knife stab, surgery, or a fall.
The symptoms of diaphragmatic hernia are mostly respiratory, but a few are related to other organs, like the gastrointestinal system. Some of these include:
Congenital diaphragmatic hernia (the kind that occurs from birth) is likely caused by genetic mutations. Acquired diaphragmatic hernia, the type that people get later in life, is usually due to some sort of injury or trauma.
For congenital diaphragmatic hernia, risk factors include:
Diaphragmatic hernia is often diagnosed before a baby is even born. Pregnant women typically get ultrasounds of their womb (the uterus), which visualizes the anatomy of a baby and can catch abnormalities like diaphragmatic hernia. If diaphragmatic hernia is not seen on ultrasound, it’s diagnosed after the baby is born, the breathing difficulties the baby has led doctors to investigate. This investigation usually involves a chest X-ray which will show lungs that are smaller than normal and abdominal contents inside the chest space near the lungs and heart.
Diaphragmatic hernias are usually treated with surgery. Most of the time these surgeries need to happen soon after birth, usually within the first week of life. This is because diaphragmatic hernia can be a life-threatening condition, so it needs to be corrected early to allow for proper oxygenation and normal lung development. If the diaphragmatic hernia is small enough, the surgery to repair it involves just closing the hole. If the hernia is too large for that procedure, the surgeon will likely need to do a muscle-flap repair – where a piece of the muscle is taken and added to help patch the hernia.