Children's Hospital Colorado

Genetic Syndromes

Genetic syndromes and the link to heart defects in children

A headshot of a genetics doctor with long brown hair and wearing a black and maroon patterned vest over a maroon shirt and a stethoscope hanging around her neck.

Children with certain genetic conditions, such as Down syndrome, sometimes also have heart problems. Genetic syndromes with related heart conditions include:

  • Down syndrome: Children with Down syndrome (also known as Trisomy 21) have an extra copy of their 21st chromosome. About half of children with Down syndrome also have a congenital heart condition, the most common being atrial-ventricular septal defects, ventricular septal defects and atrial septal defects
  • Turner syndrome: Turner syndrome solely affects girls. It happens when a girl is born with only one X chromosome (XO instead of the usual XY). Twenty percent of girls are born with Turner syndrome and heart defects. Coarctation of the aorta is the most common heart problem associated with this genetic condition.
  • DiGeorge syndrome: DiGeorge syndrome (also known as 22q11.2 deletion syndrome, velo cardio facial syndrome and Shprintzen) is a genetic condition that may also affect the immune system. Many children with DiGeorge syndrome often have abnormalities of the heart. DiGeorge syndrome heart defects are often seen in a newborn infant with cyanosis (a blue tint to their skin).
  • Marfan syndrome: Marfan syndrome is known as a connective tissue disease. Connective tissue holds the cells of the body together, much like mortar holds bricks together in a building. Children with Marfan syndrome are born with a genetic abnormality of the gene Fibrillin-1, which makes their connective tissue weak. Sometimes, Marfan syndrome heart defects causes weakening of the walls of the aorta, the main blood vessel that carries blood away from the heart to the rest of the body. If untreated, the widening aortic valve can leak, tear and in some cases rupture, which is a life-threatening and often fatal complication. In some cases, children with Marfan syndrome have a leaky mitral valve. This can allow blood to leak backward in the heart, which causes the heart to weaken and not pump sufficient amounts of blood forward.
  • William syndrome: Children with William syndrome (also known as elfin facies syndrome) may have a defect in the elastin gene. They have distinctive facial features and a very social personality, but commonly also have obstruction to the pulmonary arteries or the aorta that can cause heart and blood vessel problems.

Most of the heart conditions associated with these genetic disorders are treatable with surgery and/or medication.

Learn why parents choose our nationally-ranked Heart Institute.

The symptoms of down syndrome (or other genetic disorders) in infants with heart conditions are the same as in heart conditions that are not caused genetically.

In genetic disorders, like DiGeorge syndrome, symptoms can include:

  • A blue tint to the skin called cyanosis
  • Shortness of breath
  • Trouble feeding and gaining weight in infants
  • Excessive sweatiness
  • Abnormal facial features or multiple organ system involvement

Talk to your doctor if your child has a genetic condition, signs of any of these symptoms, or other heart concerns.

Diagnosing a heart condition

Because of the relationship between these genetic disorders and certain heart conditions, your doctor will monitor your child’s heart closely. If your doctor hears a heart murmur (an extra or abnormal sound to your child’s heartbeat) or discovers an abnormal blood pressure or pulse, he or she will do more tests to investigate.

Pediatric cardiologists at Children’s Hospital Colorado will likely perform further tests to identify if your child has a heart condition. Some common heart tests include:

  • Blood test
  • Chest x-ray
  • EKG
  • Holter and event monitors
  • ECHO

Helpful resources

If you want to learn more about genetically linked heart conditions, visit:

Learn why parents choose our nationally-ranked Heart Institute.

How do we treat genetically linked heart conditions?

Our pediatric cardiologists, in collaboration with our geneticists and other pediatric subspecialists, have the medical and surgical expertise to treat and repair the congenital heart defects associated with genetic syndromes. At Children’s Hospital Colorado we have multi-specialty programs for many of the genetic syndromes commonly linked to heart problems, such as the down syndrome treatment clinic - the Sie Center, Marfan Syndrome Clinic and Chromosome 22q11.2 Deletion Syndrome Specialty Clinic.

Interventional cardiac catheterization

In some cases, our interventional cardiologists will be able to repair your child’s heart condition with cardiac catheterization. This is a minimally invasive procedure where a catheter is threaded through the veins across a stenosis (narrowed blood vessel) or septal defect (hole). It is then used to expand the stenosis or patch the hole. After a cardiac catheterization, children usually stay in the hospital overnight and are asked to take it easy for the next week.

Watch a video about what to expect for your child’s heart catheterization.

Open-heart surgery

Other kinds of heart defects require open-heart surgery to repair. A cardiovascular surgeon will surgically enlarge the stenosis (narrowed blood vessel), stitch the septal hole together, or patch the hole with surgical material. In this case, your child will typically stay in the hospital for a few days while the incision heals.

Learn why Children’s Colorado is the best place for your child’s heart surgery.

See why our outcomes make us one of the top heart hospitals

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