Genetic syndromes and heart complications in children
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. Learn more about the Sie Center for Down Syndrome.
- 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 with Turner syndrome are born with a congenital heart condition. 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. These abnormalities are often seen in a newborn infant with cyanosis (a blue tint to their skin). Learn more about our Chromosome 22q11.2 Deletion Syndrome Specialty Clinic.
- 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 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.
Programs & Treatments
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 Sie Center for Down Syndrome, 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.
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 Hospital Colorado is the best place for your child’s heart surgery.
Diagnosis & Tests
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:
If you want to learn more about genetically linked heart conditions, visit: