Heart-Related Genetic Syndromes in Children

Genetic counselor Jessica Kushner with a parent
Genetic counselor Jessica Kushner (center) has more than two decades of experience in cardiovascular genetics and inherited connective tissue disorders.

OHSU Doernbecher Children’s Hospital provides complete care for children with genetic syndromes that can affect the heart. Your child’s team will include an expert in genetics. You’ll also find a full range of treatment options and support.  

We offer:

  • Team-based care, with experts in heart care, fetal medicine and genetics working together.
  • Close collaboration with colleagues in adult cardiology and genetics for conditions that may affect other members of your family.
  • Specialized services such as speech and feeding therapy, physical therapy and brain development monitoring at our Child Development and Rehabilitation Center.
  • Doctors who are national leaders in caring for children with complex genetic conditions, including Turner syndrome and Marfan syndrome.
  • The only children’s aortopathy program in Oregon and southwest Washington.
  • Advanced diagnostic tools and genetic counselors to help your family understand your risks and test results.
  • Comprehensive services for children with Trisomy 21 (Down syndrome) at our Child Development and Rehabilitation Center.

Find links to more information about genetic conditions that affect the heart on our Resources for Patients and Families page.

Understanding genetic syndromes that affect the heart

Genetic syndromes are most often caused by a random spelling change in your child’s genes. These changes happen early, usually right after conception, before the heart and other structures have formed. Because they happen so early, they can have wide-ranging effects.

Some of these spelling changes happen on their own. Other times, they are in the family’s genes and can be passed down to children.

What heart conditions are linked to genetic syndromes?

Congenital heart defects, abnormalities in the structure of the heart, are the most common.

Other conditions that may have a genetic origin include:

  • Arrhythmia, an abnormal heart rhythm
  • Aortopathy, problems with the aorta, the main artery sending blood from the heart to the rest of the body
  • Cardiomyopathy, a thickened or enlarged heart
Pediatric cardiologist Kathryn Holmes is an expert in Marfan syndrome
Pediatric cardiologist Kathryn Holmes is an expert in Marfan syndrome, a genetic disorder that carries a risk of problems with the aorta.

Diagnosing genetic syndromes

Almost all U.S. newborns are screened for certain types of congenital heart defects. Some issues that affect the heart also may be found before birth during fetal ultrasounds. Babies who are known to have a genetic syndrome often have an echocardiogram (heart ultrasound) after birth to screen for a heart condition.

Learn more about:

Pediatric cardiologist Michael Silberbach
Pediatric cardiologist Michael Silberbach is one of our experts on genetic syndromes. Dr. Silberbach runs our program for Turner syndrome, a condition affecting girls that can cause aorta problems.

Complete care

Team-based care: At Doernbecher, we bring together specialists to diagnose children with genetic syndromes. Depending on the condition, your child’s team could include geneticists, genetic counselors, endocrinologists, hematologists and other specialists.

Lifelong care: Children with heart conditions linked to genetic syndromes need care throughout their lives. We work with the specialists at OHSU’s Knight Cardiovascular Institute to help teens and young adults transition to adult care.

Diagram of aortic aneurysm
Some genetic conditions, such as Loeys-Dietz syndrome and Marfan syndrome, can affect the aorta. The aorta can stretch, forming an aneurysm (bulge) in the wall of the aorta. Specialists in our aortopathy program can manage the risk of aneurysm or treat one if it develops.

Types of genetic syndromes that affect the heart

What is Loeys-Dietz syndrome? This rare condition is caused by a genetic change that affects the body’s connective tissue. While similar to Marfan syndrome, it has unique features that may affect other parts of the body. It can lead to:

  • Widely spaced eyes
  • Cleft palate or wide uvula
  • Skeletal conditions such as scoliosis (curved spine), a protruding or sunken chest, or a clubfoot

How it affects the heart: Loeys-Dietz syndrome causes problems with the aorta. A patient’s aorta may stretch, causing a bulge (aneurysm). The aorta and other arteries may also tear (aortic dissection).

Loeys-Dietz care at Doernbecher: To slow aneurysms, the doctor may recommend medications to lower blood pressure. Sometimes surgery is needed to replace the diseased blood vessel. Learn more about the specialized care in our aortopathy program.

What is Marfan syndrome? Like Loeys-Dietz syndrome, this condition is caused by a genetic change that affects connective tissues. Marfan syndrome is most often inherited from a parent. About 20% of the time, the genetic change is random.

  • Children with Marfan syndrome often have long arms, legs, fingers and toes.
  • The syndrome can lead to issues related to your child’s blood vessels, skeleton, eyes, lungs and heart.
  • Some children have only mild symptoms.

How it affects the heart: Marfan syndrome can cause problems with the aorta. Pressure from blood pumped out of the heart can cause the aorta to bulge (an aneurysm) or tear (dissection). Children with Marfan syndrome may also have weaker heart valves, leading to mitral valve prolapse or mitral regurgitation.

Marfan care at Doernbecher: To slow the formation of aneurysms, your child’s doctor may recommend medications to slow heart rate and lower blood pressure. Patients also have monitoring to check for aneurysms. Sometimes surgery is needed to repair an aneurysm or to repair or replace the mitral valve. Dr. Kathryn Holmes and Dr. Lars Grosse-Wortmann are among team members with particular expertise in Marfan syndrome and aortopathies. Learn more about our complete care for aortopathies.

What is Noonan syndrome? This condition is caused by changes in one of several genes. Children with Noonan syndrome may be short. They also may have unusual facial features, developmental delays and skeletal abnormalities.

About one in 2,500 babies is born with Noonan syndrome. It more often affects boys and is usually inherited from a parent. Sometimes it happens without any family history.

How it affects the heart: About two-thirds of children with Noonan syndrome are born with a heart defect, most commonly:

  • Pulmonary valve stenosis, a narrowing of the valve that sends blood from the heart to the lungs
  • Atrial septal defect, an opening between the heart’s two upper chambers

Less common disorders include:

  • Ventricular septal defect
  • Patent ductus arteriosus
  • Atrioventricular defect

Some children with Noonan syndrome develop hypertrophic cardiomyopathy, a thickening of the heart muscle.

What is Trisomy 21? Trisomy 21 is the most common chromosomal disorder and cause of learning issues in children. Children with Trisomy 21 have an extra copy of chromosome 21, which commonly leads to developmental delays. It can be diagnosed with genetic testing before birth.

How it affects the heart: About half of children with Down syndrome are born with a congenital heart defect such as a septal defect (hole in the heart). Often, these disorders are mild and don’t need treatment. Some need to be repaired with surgery.

What is Turner syndrome? This condition affects only girls. It’s caused when one copy of a child’s X chromosome is missing or incomplete. One in 2,000 to 2,500 girls is born with Turner syndrome. In some cases, it’s diagnosed before birth, or shortly after. Mild cases may not be diagnosed until adulthood.

  • People with this condition tend to be shorter, with undeveloped ovaries and delayed puberty.
  • Other symptoms include abnormalities of the eyes, ears, bones and kidneys.

How it affects the heart: Turner syndrome can affect the walls of the aorta and the aortic valve. The most common condition related to Turner syndrome is bicuspid aortic valve. The baby is born with two flaps in the aortic valve instead of three. A smaller portion of girls has coarctation, or narrowing, of the aorta.

Turner care at Doernbecher: Dr. G. Michael Silberbach, a national expert in Turner syndrome, leads our program. We offer a clinic that brings together specialists to treat the conditions caused by Turner syndrome, including high blood pressure, infertility and autoimmune disorders.

What is 22q11.2 deletion syndrome? This disorder happens when a child is missing a tiny part of chromosome 22. About one in 2,000 to 4,000 children is born with 22q11.2 deletion syndrome. Most are from a random genetic change.

It can cause health issues that include:

  • Cleft palate
  • Feeding difficulties
  • Unusual facial features
  • Hearing loss
  • Speech disorders
  • Learning and behavior issues
  • Kidney problems
  • Difficulty fighting infections

How it affects the heart: Most children with 22q11.2 deletion syndrome are born with a heart defect such as:

  • Interrupted aortic arch
  • An abnormal pulmonary valve
  • Atrial septal defect
  • Tetralogy of Fallot
  • Truncus arteriosus
  • Ventricular septal defect

What is Williams syndrome? This rare condition affects one in 10,000 babies. It’s caused by a random deletion of genes on chromosome 7. It can lead to:

  • Unusual facial features
  • Connective tissue and joint disorders
  • Learning delays
  • Distinctive personality traits
  • Developmental delay

How it affects the heart: Three in four children with Williams syndrome are born with a heart defect. Narrowing of the aorta (aortic stenosis) and other arteries is the most common.

Other genetic syndromes that affect the heart include:

  • Alagille syndrome: This disorder can affect the liver, heart and other body parts. Symptoms can range from mild to severe. It’s linked to pulmonary stenosis (narrowing or stiffening of the pulmonary valve) and a combination of heart defects called tetralogy of Fallot.
  • CHARGE syndrome: CHARGE syndrome can affect the eyes, ears, heart and other body parts, including the nerves from the brain to the body. It can also affect growth and development. About three in four patients have a congenital heart condition that can range from mild to severe.
  • Cornelia de Lange syndrome: Children with this rare disorder typically have slow growth, bone anomalies, and mild to severe intellectual disabilities. Other conditions linked to this syndrome include congenital heart disease, such as ventricular and atrial septal defects.
  • Ellis-van Creveld syndrome: Children with this disorder have extra fingers and/or toes and abnormally short limbs. Most are also born with a heart defect, most commonly an atrial septal defect.
  • Holt-Oram syndrome: This rare condition affects development of the bones and heart. Many children with Holt-Oram syndrome have missing or underdeveloped bones in their hands, forearms or shoulders. Three in four have a heart defect, most often a ventricular or atrial septal defect.
  • Kabuki syndrome: This condition can affect many systems in the body, including the heart. Patients typically have delayed growth, bone anomalies, and mild to moderate intellectual disabilities. Congenital heart defects linked to Kabuki syndrome include coarctation (narrowing) of the aorta, and ventricular or atrial septal defects.
  • VACTERL association: Children with this complex condition typically have birth defects in several parts of the body, such as the kidneys, limbs and heart. Symptoms vary widely. Congenital heart defects linked to this condition include ventricular septal defects.
  • Wolf-Hirschhorn syndrome: This rare syndrome can come with problems in growth and development. Symptoms vary greatly. Patients also often have intellectual disabilities and other conditions, including heart defects.

For families

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  • Ask questions.

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700 S.W. Campus Drive
Portland, OR 97239
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‘It’s comforting to be so close’

Aho-Laithe family with a photo of baby Walter

Baby Walter’s family is thankful for OHSU’s Rood Family Pavilion. They spent five months at the guest house while their son had surgeries related to 22q11.2 deletion syndrome.

Meet Foxy Kusin

Doernbecher patient Foxy Kusin playing with blocks

Foxy Kusin, a vibrant toddler with Marfan syndrome, sees a team at Doernbecher for a related heart condition.