Marfan syndrome program

What is Marfan syndrome?

Marfan syndrome is a complex genetic condition that affects the body's connective tissue that supports organs, blood vessels, bones and muscles. The disorder can cause loose, flexible joints and abnormalities of the heart, blood vessels, spine, joints, eyes and mouth.   

Marfan syndrome may cause physical characteristics, including:

• Facial characteristics, including deep-set eyes, thin/long face, small jaw and crowded teeth
• Loose joints and greater flexibility than their peers
• Lean, lanky build
• Taller than their peers

Why choose CHoR as your one-stop center for Marfan care?

Comprehensive care of Marfan syndrome requires an expert team of specialists who diagnose, treat and manage all aspects of care. As a regional referral center for children with Marfan syndrome we provide a level of customized and comprehensive care that is not available anywhere else in Virginia.

Our multispecialty program is housed within the Children's Hospital Foundation Heart Center and provides:

• Personalized care plans that cover medications, surgery, care coordination, genetic counseling, patient education and other beneficial therapies
• Advanced heart imaging and genetic testing
• Collaboration across multiple specialties including:
  • Cardiology and cardiac surgery
  • Dentistry
  • Gastroenterology and nutrition
  • Genetics
  • Neurology
  • Neurosurgery
  • Ophthalmology
  • Orthopaedics
  • Pain management
• Family-friendly, coordinated and convenient environment that houses pediatric medical specialties, imaging, testing and family amenities under one roof

Your first visit: What to expect

Marfan syndrome is rare and only affects 1 in 5,000 people. While 75 percent of individuals with Marfan have family members with the condition, 25 percent are the only one in their immediate family experiencing the life-changing condition.   The first clinic visit will include a comprehensive history and physical with team members from genetics and cardiology. Initial tests may include blood tests of the FBN1 gene that causes Marfan syndrome, imaging of the heart and x-rays that will help us develop a comprehensive diagnosis and treatment plan.

Follow-up and management

Treatment plans include referrals to other specialists and testing for family members as needed. We'll work together to meet all of your medical, nutritional, surgical and support needs – covering everything from orthotics and cardiac surgery to physical therapy and regular follow-up visits.

While there is no cure for Marfan syndrome, our goal is to prevent complications to help those with the condition live longer, healthier and fuller lives.