What Causes Diaphragmatic Hernia? Its Symptoms And Diagnosis

The diaphragm is a muscle which separates the thoracic cavity from the abdominal cavity and keeps important organs like the lungs and heart in their position. The diaphragm has an opening which allows the esophagus (part of the gastrointestinal system) located in the thoracic cavity to open into the stomach, which is located in the abdomen below the diaphragm.

A diaphragmatic hernia is a congenital anomaly which occurs due to failure of the diaphragm to fuse completely during fetal development in the mother’s uterus. This results in an abnormal opening in the diaphragm which allows abdominal organs to move up into the thoracic cavity resulting in several complications.

Epidemiological estimates suggest that diaphragmatic hernia can affect one child in 2500 to 5000 live births. There are two basic forms of diaphragmatic hernia,

  • Bochdalek Hernia: This form usually affects the left side of the diaphragm allowing abdominal contents like stomach, spleen, liver and intestines to move upwards. This is more frequently observed and accounts to 98% of all cases of diaphragmatic hernia.
  • Morgagni Hernia: This affects the right side of the diaphragm, allowing liver and intestinal content to move upwards.
    This is relatively rare form of the anomaly and affects only 2% of all cases of diaphragmatic hernia.

Diaphragmatic Hernia Causes

Diaphragmatic hernia is a congenital anomaly and is caused due to irregularity in the fetal development process. The diaphragm develops between the 7th and the 10th week of pregnancy, which is also the time when the stomach, intestine and other organs are developing. Occasionally the intestines may get trapped within the chest cavity resulting in failure of the diaphragm to develop completely resulting in hernia after birth.

The diaphragmatic hernia is caused due to an array of factors including genetic and environmental. While these factors are not clearly understood, some risk factors have been identified,

  • Parents with at least one child with a diaphragmatic hernia are at higher risk of having a subsequent child with the same disorder.
  • Morgagni hernia is more frequently observed in girls while Bochdalek hernia is more frequented in boys.
  • Diaphragmatic hernia (bochdalek type) is usually associated with other congenital anomalies like heart defect or chromosomal abnormality.

Symptoms Of Diaphragmatic Hernia

Symptoms are usually present in Bochdalek type of diaphragmatic hernia while Morgagni type of diaphragmatic hernia is usually symptomless. In most cases symptoms become apparent immediately after the birth of the child; however the severity of the symptoms may vary significantly.

  • Difficulty in breathing and rapid breathing.
  • Elevated heart rate.
  • Cyanosis (bluish color) of the nails and finger tips.
  • Abnormal symmetry of the chest with one side bigger than the other.
  • The abdomen may appear to be caved inwards.

How To Diagnose Diaphragmatic Hernia?

It is important to diagnose and treat diaphragmatic hernia promptly. The diaphragm, lungs and digestive system develop at the same time in the fetus and hence diaphragmatic hernia can be indicative of pulmonary hypoplasia and intestinal underdevelopment.

In most cases physical examination is often indicative and a chest X ray is performed in order to confirm abnormalities associated with development of the intestine, lungs and diaphragm. In order to confirm the child’s breathing abilities, a blood gas saturation test is performed using the arterial blood. Other tests like blood chromosome tests (to detect genetic disorders) and echo-cardiogram (to rule out cardiac disorder) are performed.

Surgical correction of the anomaly is the treatment of choice.

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