Aortopathy (Dilated Root & Abnormalities of the Aorta)

What Are the Potential Risks of Aortopathy?

Serious complications from aortopathy are extremely rare. We closely monitor your child’s heart to lower the risk of problems. In a small number of cases, aortopathy can lead to:

• Aortic aneurysm: A section of the aorta weakens. Blood can collect in the weak spot, causing a bulge in the artery wall. 
• Aortic dissection (aortic tear): A weakened layer inside the aorta tears, allowing blood to seep between layers. 
• Aortic rupture: A tear goes through all layers of the aorta. 

What Causes Aortopathy in Children?

Several conditions can enlarge and weaken the aorta, leading to aortopathy in children.

Connective Tissue Disorders

Connective tissue disorders affect the tissues that connect and support blood vessels, muscles (including the heart muscle), organs, bones and other structures. A child may inherit a changed gene (mutation) that causes a connective tissue disorder, or it may occur for no known reason. 

Children with these connective tissue disorders have a slightly higher risk for aortopathy:

• Ehlers-Danlos syndrome (EDS)
• Kyphoscoliotic Ehlers-Danlos syndrome (KEDS)
• Loeys-Dietz syndrome (LDS)
• Marfan syndrome 
• Vascular Ehlers-Danlos syndrome (VEDS)

Familial Aortopathy

Familial aortopathy affects members of the same family. A child inherits a gene change from a parent that increases their risk of aortopathy. Or, that gene change causes an inherited syndrome that affects the aorta, such as Turner syndrome.

Heart Conditions

Children born with certain types of congenital heart disease are more likely to have an enlarged aorta. In some instances, corrective heart surgeries can cause aortopathy.

Heart conditions linked to aortopathy include:

• Bicuspid aortic valve (BAV)
• Coarctation of the aorta
• Pulmonary atresia
• Tetralogy of Fallot
• Transposition of the great arteries (d-TGA)
• Truncus arteriosus 
• Ventricular septal defect (VSD)

What Are the Signs and Symptoms of Aortopathy? 

An enlarged aorta or aortic aneurysm rarely causes symptoms. You should seek immediate medical care if your child shows signs of an aortic tear or rupture. These symptoms include:

• Clammy, sweaty skin
• Confusion
• Difficulty talking
• Dizziness or fainting (syncope)
• Nausea and vomiting
• Severe, sudden pain in the chest, belly or upper back
• Shortness of breath
• Weakness or paralysis on one side of the body

 How Is Aortopathy Diagnosed?

At Lurie Children’s, your child receives high-level care from pediatric cardiologists who have special expertise in diagnosing and managing aortic problems in children. If your child is at high risk for an enlarged aorta, they will get regular cardiac imaging throughout their lives. Close monitoring is key to detecting problems and starting treatments early. 

Different tests help our heart specialists diagnose aortopathy and determine disease severity. Your child may receive:

• Echocardiogram (echo) to check for heart defects and assess heart function
• Cardiac MRI or cardiac magnetic resonance angiography (MRA) to view the aorta and arteries
• CT angiography (CTA) to view all of the aorta and arteries
• Four-dimensional MRI (4D MRI) to provide detailed images as blood flows through the 
• aorta and heart 

How Is Aortopathy Treated?

Treatments depend on your child’s unique diagnosis. At Lurie Children’s, we have all the specialists, therapies and procedures your child needs. Our team customizes a care plan for your child’s distinct diagnosis, symptoms and needs.

Heart Medications 

Blood pressure medications take pressure off the aorta, helping to lower the risk of aortic aneurysms and tears. These medications include:

• Angiotensin receptor blockers (ARBs)
• Beta-blockers

Heart Surgery

Many children with an enlarged aortic root will eventually need a heart surgery called an aortic root replacement. This preventive procedure lowers a child’s risk of a life-threatening aortic tear or rupture. Pediatric heart specialists at Lurie Children’s monitor your child’s aorta, recommending surgery at the appropriate time. Surgery typically takes place during the teen years.

During surgery, our pediatric heart surgeons remove the weakened aortic root and replace it with a synthetic tube (graft) that should last through adulthood. When possible, they perform valve-sparing aortic root replacement, which preserves and reimplants the aortic valve your child was born with.

In rare instances, a child may develop a weak spot in a different section of the aorta and need another surgery. We conduct regular heart imaging tests to monitor for these aortic issues.

Physical Activity Guidance 

Because intense physical exercise can put extra strain on the aorta, children with aortopathy should avoid high-impact sports like football and certain exercises like strenuous weightlifting, push-ups and sit-ups. Still, we recognize that it’s good for children to be physically active. Your child’s care team might suggest safer activities, such as biking, swimming and recreational (noncompetitive) sports. 

Your child may also work with experienced exercise physiologists and heart specialists at Lurie Children’s Cardiopulmonary Rehabilitation Program. These experts help your child regain strength and stamina after heart surgery while ensuring they safely engage in physical activity.

What Is Lurie Children’s Approach to Caring for Children With Aortopathy?

At Lurie Children’s, we take a team approach to caring for children with aortopathy. Your family benefits from:

• Trusted heart care: Your child receives heart tests and procedures at the nation’s best children’s hospital for pediatric cardiology and cardiac surgery, as recognized by Newsweek. U.S. News & World Report. It also ranks us among the country’s best for pediatric heart care.
• Advanced heart imaging: All cardiac imaging takes place at the state’s only pediatric echo lab accredited by the Intersocietal Accreditation for Echocardiography. Because we perform thousands of heart tests every year, we know how to keep your child comfortable. When needed, we offer sedation for children getting MRIs.
• Specialized programs: We have dedicated programs for children who have conditions that cause aortopathy. Your child sees a team of specialists and receives comprehensive care at our Bicuspid Aortic Valve (BAV) Program, Connective Tissue Disorders Program or Turner Syndrome Program.
• Personalized genetic services: Specialists at the Edwards Family Division of Genetics and Rare Diseases and Cardiovascular Genetics Center offer advanced tests for genetic conditions that cause aortopathy. Our genetic counselors provide ongoing education and support to your family. 
• High-level surgical care: In the hospital, your child’s heart care starts in the Regenstein Cardiac Care Unit (CCU). Our CCU is one of the few in the nation that keeps your child in the same private room from admission to discharge. Heart surgeries take place at our Level I Children’s Surgery Center, which received the highest distinction from the American College of Surgeons (ACS). 
• An easier transition to adult care: As your child approaches young adulthood, we work closely with the Lurie Children’s Adult Congenital Heart Disease (ACHD) Program and the Bluhm Cardiovascular Institute at Northwestern Memorial Hospital to streamline the transition. 

The Heart Center at Lurie Children’s 

Pediatric heart specialists at The Heart Center at Lurie Children’s are nationally recognized for their expertise in managing complex heart conditions before birth, through childhood and into adulthood. Our pediatric heart surgeons perform hundreds of procedures every year with exceptional outcomes. Your family receives compassionate, supportive care through each step of the medical journey. 

Learn more aboout our Heart Center