Diaphragmatic Hernia

Condition Description

Diaphragmatic hernia is a congenital opening in the diaphragm with herniation (abnormal protrusion or bulging of an organ or other body structure through a defect or natural opening) of abdominal contents into the chest cavity. The diaphragm is a large dome-shaped muscle that separates the chest from the abdominal cavity. The diaphragm moves up and down during respirations to assist with lung expansion and compression.

The cause of a diaphragmatic hernia is unknown. Early in fetal life (in about the 6th week) the cells that form the diaphragm fail to fuse and thus the kidney, stomach, and intestines can shift from the abdomen into the chest. This usually occurs on the left side of the chest and will cause under-development of the left lung as well as decreased growth of the right lung because of the displacement of the heart to the right (called dextrocardia). Breath sounds are decreased on the left and the heart sounds are heard on the right side of the chest. Babies with a diaphragmatic hernia can have a flat abdomen because some of the organs are within the chest cavity. Babies will have severe respiratory difficulties very soon after birth because the lungs are not able to function properly. Babies with diaphragmatic hernia are extremely ill and require immediate mechanical ventilation to breathe and surgery to repair the defect. The repair involves placing the organs into the abdominal cavity and closing the opening in the diaphragm. Our program has been tracking diaphragmatic hernia among live births in select counties since 2005 and gradually are expanding statewide.

Using data from Minnesota births between 2014-2018, we found 100 babies were born with diaphragmatic hernia, resulting in a rate of 3 babies per 10,000 births. Annually, about 20 babies are born with diaphragmatic hernia. Parental education and support are essential, and local, regional, and national organizations may be very helpful.

Condition specific organizations

• Genetics Home Reference
• Medline Plus
• Healthline
• Congenital diaphragmatic hernia - About the Disease - Genetic and Rare Diseases Information Center
• Facts about Diaphragmatic Hernia | CDC