Marfan Syndrome

Our approach to Marfan syndrome

At Stanford Children’s Health, we are well on our way to becoming a national leader in treating Marfan syndrome. Since many children with Marfan syndrome need surgery to repair a weakened aorta, the main artery from the heart to the rest of the body, we team up with our nationally renowned heart surgeons at the Betty Irene Moore Children’s Heart Center to provide highly complex, expert heart surgery for your child. We also work directly with our heart failure and transplant teams to place VADs, or ventricular assist devices, in order to treat our patients with heart failure. VADs perform the task of the aorta, mechanically pumping blood out of the heart and into the rest of the body. Stanford Children’s Health has one of the highest-volume pediatric VAD programs in the United States. VADs buy time for pediatric heart transplant, of which we are a national leader in volumes and outcomes.

At Stanford Children’s Health, top doctors in every field care for all of your child’s needs. We commonly partner with experts outside of cardiology, such as ophthalmologists, who are highly capable at addressing the unique challenges that children with Marfan syndrome face with their eyes and vision. Our program’s dedicated orthopedic surgeon cares for your child’s bone and spine needs, and our program dentist coordinates dental care for your child by piggybacking on scheduled visits to solve issues with your child’s teeth.

About Marfan syndrome

With Marfan syndrome, a child’s body has a mutated gene that tells it how to make an important protein called fibrillin-1, or FBN1. Because this protein is missing, another protein, called transforming growth factor beta, or TGF-β, increases and causes problems with many organs and structures in the body.

Early diagnosis of Marfan syndrome is important to save lives. Signs of Marfan syndrome can be obvious at birth in what’s called early onset Marfan syndrome. This is often the most severe form of Marfan syndrome. Sometimes, signs progress as a child ages and are not noticed until the teen years. A child might have just one or two signs, or several. It’s not uncommon for a teen to go undiagnosed until experiencing sudden, intense chest pain or trouble breathing due to an enlarged aorta.

Signs of Marfan syndrome

  • Heart conditions: Specifically, children with Marfan syndrome can have arteries with weakened walls. Weakened walls can lead to enlarged or expanded blood vessels that can tear when stretched. When the aorta is involved, it’s often serious, demanding surgery.
  • Bone conditions and flexible joints: Including tall, thin body; flat feet; curved spine; long arms, legs, and fingers; or sinking chest or one that sticks out.
  • Serious eye problems: Dislocated lens, detached retina, early glaucoma, and early cataracts.
  • Crowded teeth.
  • Stretch marks on the skin.

 

Learn more by visiting the Marfan Foundation >