Marfan Syndrome (Children)

Marfan syndrome is a genetic condition that affects the body's connective tissue—the "glue" that holds the body together and gives structure to organs, bones, and blood vessels. It affects about 1 in 5,000 to 10,000 children¹. The condition is caused by a change (mutation) in a gene called FBN1, which makes a protein called fibrillin-1 that helps give strength and flexibility to many parts of the body¹.

Marfan syndrome is passed down in families in what doctors call an "autosomal dominant" pattern. This means if one parent has Marfan syndrome, each child has a 50% (1 in 2) chance of inheriting it¹. However, about 1 in 4 children with Marfan syndrome are the first in their family to have it, meaning it happened as a new genetic change^{1 2}.

As Marfan syndrome affects connective tissue throughout the body, it can cause changes in several areas. Not every child will have all of these features, and some may be very mild¹.

Body and Bones: 

• Taller than average height with long arms, legs, fingers, and toes 
• Flat feet 
  
• Curved spine (scoliosis) 
  
• Chest that pushes inward (pectus excavatum) or outward (pectus carinatum) 
  
• Flexible joints 
  
• Stretch marks on the skin^{1 3}
  

Eyes: 

• Near-sightedness (myopia) 
  
• Lens of the eye in the wrong position (ectopia lentis) 
  
• Higher risk of retinal detachment, glaucoma, or early cataracts ^{3 4}
  

Heart and Blood Vessels: 

The heart and blood vessels are the most important areas to monitor in Marfan syndrome¹.

• Enlarged aorta: The aorta is the main blood vessel that carries blood from the heart to the rest of the body. In Marfan syndrome, the aorta can gradually stretch and enlarge, particularly at the part closest to the heart, known as the aortic root. If it gets too large, there is a risk it could tear (dissection) or rupture, though this is extremely rare in children and uncommon even in teenagers³. 
• Heart valve problems: The mitral valve (between the heart's upper and lower left chambers) may not close properly (mitral valve prolapse). Most children have mild valve problems that don't need treatment, but some may need monitoring or, rarely, surgery^{1 3}.
  

Source:
1. Tinkle BT, Lacro RV, Burke LW. Pediatrics. 2023;151(4):e2023061450. doi:10.1542/peds.2023-061450.
3. Morris SA, Flyer JN, Yetman AT, et al. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265. 
4. Hiratzka LF, Bakris GL, Beckman JA, et al. Journal of the American College of Cardiology. 2010;55(14):e27-e129. doi:10.1016/j.jacc.2010.02.015. 

Diagnosing Marfan syndrome can be challenging, especially in younger children, because many features develop or become more noticeable as children grow^{1 3}. Doctors use specific criteria called the "Ghent criteria" that looks at features in the heart, eyes, bones, and family history¹.

Genetic testing can help confirm the diagnosis by finding the FBN1 gene change, though a small percentage of people who clearly have Marfan syndrome may have normal genetic test results³. As features appear over time, some children may be described as having "potential Marfan syndrome" and need regular check-ups until the diagnosis becomes clearer^{1 5}. 

Source: 
1. Tinkle BT, Lacro RV, Burke LW. Pediatrics. 2023;151(4):e2023061450. doi:10.1542/peds.2023-061450. 
3. Morris SA, Flyer JN, Yetman AT, et al. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265. 
5. Monteil DC, Shikany A, Aljeaid D, et al. The Journal of Pediatrics. 2020;221:188-195.e1. doi:10.1016/j.jpeds.2020.03.005.  

Heart Monitoring 

Regular heart check-ups are essential. Your child will need³: 

• Echocardiograms (heart ultrasounds) to measure the size of the aorta and check the heart valves. This will be typically done one or twice a year, depending on the aorta's size.  
  
• Blood pressure control with medications if needed 
  
• CT or MRI scans of the entire aorta, starting in the late teen years, to check areas that ultrasound can't see well¹
  

Medications 

Many children with Marfan syndrome take medications called beta-blockers or ARBs (angiotensin receptor blockers) to help slow the growth of the aorta and reduce stress on the blood vessel walls³. These medications have been shown to be helpful in protecting the aorta in research studies³.

Eye Care 

Children should see an eye doctor (ophthalmologist) regularly to check for lens problems, near-sightedness, and other eye issues^{3 4}. 

Bone and Joint Care 

An orthopaedic doctor can help manage scoliosis, chest deformities, or flat feet if they cause problems or discomfort¹. 

Surgery 

If the aorta becomes too large, surgery to replace that section of the blood vessel may be recommended to prevent a tear. This is typically done when the aorta reaches a certain size (usually around 5 cm in older teens and adults), but the decision depends on many factors including growth rate, family history, and individual circumstances¹. Aortic dissection is extremely rare in childhood³.

Source: 
1. Tinkle BT, Lacro RV, Burke LW. Pediatrics. 2023;151(4):e2023061450. doi:10.1542/peds.2023-061450. 
3. Morris SA, Flyer JN, Yetman AT, et al. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265. 
4. Hiratzka LF, Bakris GL, Beckman JA, et al. Journal of the American College of Cardiology. 2010;55(14):e27-e129. doi:10.1016/j.jacc.2010.02.015. 

Exercise is important and beneficial for children with Marfan syndrome, but certain activities need to be avoided or modified^{1 3}.

Generally Safe Activities (at recreational, non-competitive levels): 

• Walking and hiking 
  
• Swimming 
  
• Biking 
  
• Golf 
  
• Bowling 
  

Activities to Avoid: 

• Heavy contact sports (football, hockey, wrestling, basketball) 
  
• Intense weightlifting or bodybuilding 
  
• Competitive sports requiring intense bursts of effort or training to exhaustion 
  
• Sports with high risk of eye injury (boxing, full-contact martial arts)^{1 3}
  

The key is to avoid activities that involve intense straining, heavy contact, or risk of trauma. Your child's cardiologist should evaluate and approve any new physical activities before your child starts them^{1 3}

Dental Care 

Good dental hygiene is very important. Always inform your dentist about your child's heart condition before any dental work. Your dentist may recommend an antibiotic before certain procedures to prevent infections¹

Medications to Avoid 

Certain medications can increase stress on the aorta and should generally be avoided when possible: 

• Decongestants 
  
• Some migraine medications (triptans) 
  
• Fluoroquinolone antibiotics (like ciprofloxacin)¹
  

Always check with your child's doctor before starting any new medications. 

School and Daily Life 

Most children with Marfan syndrome can participate fully in school activities with some modifications. Work with your child's school to ensure: 

• Physical education teachers understand activity restrictions 
  
• Your child has permission to stand up and move around if needed (some children experience dizziness when standing, especially if taking beta-blockers)¹
  
• Teachers are aware of any vision issues 

Vaccinations 

Most children with Marfan syndrome can follow the standard vaccination schedule¹.

Travel 

Before traveling, especially long distances, we recommend to: 

• Have a recent check-up 
  
• Ensure you have adequate health insurance coverage (and that it covers for pre-existing condition) 
  
• Bring enough medication 
  
• Carry documentation about your child's condition 
  
• Know where to find medical care at your destination 
  

Diet and Weight 

No special diet is needed, but maintaining a healthy weight is important because extra weight puts additional stress on the heart. A balanced, nutritious diet is recommended.

Infections

Children with Marfan syndrome are not generally more prone to infections than other children. However, if your child develops unusual symptoms or you are unsure whether an illness needs medical attention, please contact your doctor. 

Source:
1. Tinkle BT, Lacro RV, Burke LW. Pediatrics. 2023;151(4):e2023061450. doi:10.1542/peds.2023-061450. 
3. Morris SA, Flyer JN, Yetman AT, et al. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265.

Pregnancy Considerations (for the Future) 

Most women with Marfan syndrome can have healthy pregnancies with careful planning and monitoring. Women with larger aortas (over 4.5 cm) face higher risks and should discuss this with their doctors before becoming pregnant¹.

Each child of a parent with Marfan syndrome has a 50% chance of inheriting the condition¹. Genetic counselling before getting pregnant is recommended. 

Life Expectancy 

With proper monitoring and treatment, people with Marfan syndrome can expect to live a normal or near-normal lifespan³. Regular medical care, appropriate medications, and timely surgery when needed have dramatically improved outcomes. 

Source: 
1. Tinkle BT, Lacro RV, Burke LW. Pediatrics. 2023;151(4):e2023061450. doi:10.1542/peds.2023-061450. 
3. Morris SA, Flyer JN, Yetman AT, et al. Circulation. 2024;150(11):e228-e254. doi:10.1161/CIR.0000000000001265. 

• What is my child's current aortic measurement and z-score? 
  
• How often does my child need heart monitoring? 
  
• What activities are safe for my child? 
  
• What medications does my child need, and what are the side effects? 
  
• When should we see specialists (cardiologist, ophthalmologist, orthopedic surgeon)? 
  
• Should other family members be tested?