What is interruption of the aortic arch?

The aorta is the main artery that carries oxygen-rich blood out of the heart to the body. In a child with interrupted aortic arch, there is a disconnection (a break) between the top part of the aortic arch and the lower, descending aorta.

The aorta starts at the left ventricle (lower chamber) of the heart as one large vessel and branches into smaller vessels to carry blood to different parts of the body. From the heart, the aorta arches up and then curves around and down. Arteries that deliver blood to the head, arms and other parts of the upper body branch off at the top of the arch. Arteries that deliver blood to the abdomen, legs, and other parts of the lower body branch off from the lower, descending aorta.

A newborn can survive with a disconnection in the aorta as long as a blood vessel called the ductus arteriosus remains open. The ductus arteriosus is an alternate route for blood to reach the lower body. This vessel exists in the fetus but closes within hours or days of birth. After it closes, an infant with interruption of the aortic arch will quickly become very sick without medical intervention.

Types of interruption of the aortic arch

There are three types of interruption of the aortic arch, based on the location of the break in the aorta. Three arteries, feeding the head, neck, and arms, branch off directly from the aortic arch, in this order: innominate, left carotid, left subclavian.

• Type A: The disconnection is after the left subclavian artery
• Type B (most common): The disconnection is after the left carotid artery
• Type C (least common): The disconnection is after the innominate artery (sometimes called the brachiocephalic artery)

Wherever the disconnection occurs, the passage of oxygenated blood to the lower body is compromised, or literally interrupted.

Children with interruption of the aortic arch almost always also have a large ventricular septal defect (VSD), or a hole in the wall between the two lower, pumping chambers of the heart. They may also have other heart defects. Your team at the Cardiac Center will explain the specific anatomy of your child’s heart in detail.

Signs and symptoms of interruption of the aortic arch

Symptoms of interruption of the aortic arch usually appear within the first days of life and may include:

• Rapid breathing 
• Excessive sleepiness
• Rapid heart rate
• Difficulty nursing or feeding
• Unresponsiveness (the baby seems “out of it”)
• Gray discoloration of the skin in lower body
• Cool feet and legs

Even before these symptoms appear, a doctor may hear a heart murmur (an abnormal heart sound). Once symptoms appear, immediate intervention to stabilize the infant is necessary.

Testing and diagnosis of interruption of the aortic arch

Diagnosis may require some or all these tests:

• Echocardiogram: sound waves create an image of the heart
• Electrocardiogram (ECG): a record of the electrical activity of the heart
• Chest x-ray
• Pulse oximetry: a noninvasive way to monitor the oxygen level of the blood
• Cardiac catheterization: a thin tube is inserted into the heart through a vein and/or artery in the leg which makes measurements throughout the heart
• Cardiac MRI: a three-dimensional image shows the heart’s structures in detail

Sometimes interruption of the aortic arch is diagnosed on a fetal ultrasound and/or fetal echocardiogram. Our Fetal Heart Program can help with a plan for delivery and care immediately after birth.

The Children’s Hospital of Philadelphia has its own delivery unit, on the same floor as cardiac operating rooms and cardiac patient care units. Newborns can be in the care of pediatric cardiologists and specially trained cardiac nurses immediately. The parents are able to remain close to their newborn, and they can talk directly with the healthcare providers immediately after the child is born. The Fetal Heart Program team will discuss delivery in the Garbose Family Special Delivery Unit with mother and family.

A large number of children with interrupted aortic arch also have a genetic syndrome called 22q11 deletion syndrome  (also known as DiGeorge, velocardialfacial or conotruncal anomaly face syndromes). Genetic testing (a blood test) for this syndrome will likely be part of our evaluation.

Treatment for interruption of the aortic arch

Open heart surgery is required to fix interruption of the aortic arch. Surgery will occur as soon as possible, once your baby is stabilized. Your child will be in the  Evelyn and Daniel M. Tabas Cardiac Intensive Care Unit (CICU) before and after surgery, where she will receive round-the-clock attention from a team of dedicated cardiac critical care medicine specialists.

The surgeon will make the aorta into a continuous vessel by stitching the top part of the aortic arch and the descending aorta together. The surgeon will tie off the ductus arteriosus and close the ventricular septal defect by stitching a patch into the muscle of the heart. As the child grows, heart tissue grows over the patch and the stitches.

Surgery varies depending on the child’s heart anatomy and more than one surgery may be required. The Cardiac Center team will explain the procedures to you in detail.

Outlook for interruption of the aortic arch

Because of enormous strides in medicine and technology, today most children with heart conditions go on to lead productive lives as adults.

Follow-up care

Through 18

Children born with interrupted aortic arch will require lifelong care by a cardiologist. Our pediatric cardiologists follow patients until they are young adults, coordinating care with the primary care physician. Patients will need to carefully follow doctors’ advice, including staying on any medications prescribed and, in some cases, limiting exercise.

Some patients will develop related problems as children or adults. Some may experience problems with the aortic arch or the aortic valve (which opens and closes to allow blood to flow out of the heart into the aorta) and in the region of the aorta immediately under the valve. Additional procedures, such as surgery or catheterization, may be required when the child is older.

Into adulthood

It is important that children born with interrupted aortic arch continue to see a cardiologist, even as they become adults. We will help patients transition care to an adult cardiologist when appropriate.

The Philadelphia Adult Congenital Heart Center, a joint program of Children's Hospital of Philadelphia and the University of Pennsylvania, meets the unique needs of adults who were born with heart defects.