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Genetic Syndromes in Children

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Genetic syndromes and the link to heart defects in children

  • 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. Children with certain genetic conditions, such as Down syndrome, sometimes also have heart problems.

Genetic syndromes with related heart conditions include:

  • 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). 20% 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.

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Kimberly DiMaria, CPNP-AC

Kimberly DiMaria, CPNP-AC

Certified Pediatric Nurse Practitioner

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Melanie Everitt, MD

Melanie Everitt, MD

Cardiology - Pediatric

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Dunbar Ivy, MD

Dunbar Ivy, MD

Cardiology - Pediatric

Erin Lueth, MD

Erin Lueth, MD

Cardiology - Pediatric, Pediatrics

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