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Interrupted aortic arch is an unusual birth defect where the aorta, a blood vessel responsible for routing oxygenated blood from the heart to the rest of the body, is not properly formed. This birth defect is very serious and needs to be treated with surgery as soon after birth as possible. Once treated, the infant should go on to develop normally and should not experience additional medical problems unless the infant has other congenital conditions.
This condition arises as a result of errors during fetal development, and is usually random. It can be associated with other heart defects and is also known to be associated with a genetic condition called DiGeorge Syndrome. Often, the interrupted aortic arch is identified during routine prenatal ultrasound examinations, providing warning ahead of time. In other cases, the infant begins to do poorly shortly after birth, experiencing weakness, fatigue, and bluing of the extremities.
As long as the fetus is in the womb, the fetal circulatory system is operative and a structure called the ductus arteriosis bypasses the aorta, providing the infant with appropriate circulation. Once the infant is born, this structure closes off. As it starts to close, a patient with an interrupted aortic arch will experience stoppage of bloodflow to some areas of the body. This will cause a rapid onset of serious symptoms within days of birth.
Babies with this condition are usually born full term and appear healthy at birth, unless they have other medical problems. Immediate treatment for interrupted aortic arch is the administration of medication to keep the ductus arteriosus open until the baby can be taken to surgery. In surgery, a repair is made to allow the baby's heart to function normally. Surgery soon after birth carries risks, as babies can be very fragile, but the alternative is allowing the defect to go untreated, leading to congestive heart failure and death.
If an interrupted aortic arch is identified on a prenatal visit, the parents can discuss plans for handling the defect as quickly as possible after the birth. This will also help them prepare for a hospital stay for the baby and the emotional stress associated with surgery. In cases where babies are born without a prenatal diagnosis, the defect may not be identified until an exam reveals a heart murmur and other signs of problems, like mottling of the skin and poor feeding as the baby's circulatory impairments become more pronounced. In these situations, decisions need to be made quickly to get appropriate help to the baby as soon as possible.