Marfan Syndrome / Aortopathy Clinic
Marfan syndrome is a genetic condition that affects the body’s connective tissue. Most people affected by Marfan syndrome inherit it, although it can be a spontaneous genetic mutation. There is a 50% chance of passing the genetic mutation on to subsequent generations.
Marfan syndrome can impact many body systems including the heart, eyes, joints, and bones.
Some hallmarks of the syndrome include:
- Unusually tall stature and thin body habitus
- Long arms or fingers
- Sternum abnormalities (Pectus excavatum/carinatum)
- Curvature of the spine (scoliosis)
- Flexible joints
- Eye issues such as nearsightedness or lens dislocation
Our Expertise
The Cardinal Glennon Pediatric Marfan Syndrome Clinic
SSM Health Cardinal Glennon Children’s Hospital offers the only pediatric multispecialty Marfan Syndrome Clinic in the St. Louis region. The clinic is composed of a board-certified pediatric cardiologist, a pediatric genetics physician, and a genetic counselor. Extended members of the team include cardiac surgery, pediatric ophthalmology, and pediatric orthopedics. In addition to Marfan syndrome, the team also evaluates and treats children with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
What to Expect
The Marfan Syndrome Clinic is offered on the first Friday of every month. Children and families referred to the clinic will meet with a genetic counselor and physician. A comprehensive clinical evaluation will be performed, and we will coordinate any genetic and laboratory testing that is needed. Genetic testing of family members is encouraged once a person is diagnosed with Marfan syndrome. This can be genetic testing of a child if a parent has the condition or testing of a parent and siblings if a child is confirmed.
Should the diagnosis be confirmed, medications are often recommended which can show the progression of symptoms, especially cardiac complications. Children will also be evaluated for potential surgery if needed for any bone, joint, or heart conditions.
