Pediatric Connective Tissue Disorders

The Connective Tissue Disorder Program at Lurie Children’s provides comprehensive care and genetic counseli​ng to more than 200 patients — from infants to young adults — who have disorders of the connective tissue, such as Marfan syndrome​. The program started in 1999 as the Marfan Syndrome Clinic and expanded in 2011 as more patients were identified with related connective tissue disorders.

There are more than 200 diseases that involve the connective tissue, the part of the body that holds everything together. Because connective tissue is found throughout the body, some of these disorders affect many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. Heart and vascular problems are the most serious complications that can result from a connective tissue disorder.

Sometimes the cause of a connective tissue disorder is unclear, but many are inherited (genetic). These disorders​ range from common to rare. Symptoms and treatment depend on the disorder. Treatment of heart complications may involve restriction of certain physical activities, drug treatment or surgical repair.

Our specialists evaluate and tre​at a wide range of connective tissue disorders that can involve the heart and blood vessels, including:

  • ​Arterial tortuosity syndrome
  • Congenital contractural arachnodactyly
  • Cutis laxa
  • Ehlers-Danlos syndrome
  • Familial thoracic aortic aneurysm
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • MASS syndrome (involving the Mitral valve, Aorta, Skin and Skeleton)
  • Shprintzen-Goldberg syndrome
  • Stickler syndrome
  • Undefined (undifferentiated) connective tissue disorders

The Lurie Children’s D​ifference

Our care is family-centered​ and includes support for the whole family. We also collaborate with the Bluhm Cardiovascular Institute at Northwestern Memorial Hospital to help pediatric patients transition to adult care.

R​esearch

Our current research initiatives in patients with Marfan syndrome include:

  • ​Participation in an NIH-funded study to find the best drug to slow aortic enlargement by comparing atenolol and losartan
  • Finding biological markers for treatment response, specifically, levels in the blood of transforming growth factor (TGF)-beta, a protein that plays a role in the disease
  • Evaluating quality of life

Our Spe​cialists

We provide a multidisciplinary team of experts from different healthcare specialties to make sure your child gets the most comprehensive care possible. This team meets weekly to discuss and decide on a care plan for each patient, which allows multiple heart doctors to weigh in on treatment options for your child. The team of experts includes:

What​ to Expect

The easiest way to detect heart involvement in connective tissue disorders and to check for disease progression is with a heart ultrasound (echocardiogram​). We perform this painless test in our accredited echocardiography laboratory. When more information is needed, we offer additional cardiac imaging techniques, such as computerized tomography (CT) and magnetic resonance imaging (MRI​).

Our specialists can provide long-term monitoring and care for your child or young adult, or provide a second opinion regarding diagnosis and treatment.

Once a family member is identified with a connective tissue disorder, we recommend screening all first-degree relatives (such as siblings) for the disease, with either echocardiography or genetic testing if the patient has a known genetic mutation.

M​ake an Appointment

To schedule an appointment with one of our specialists, please contact Jessica Bucher in the Division of Genetics, Birth Defects and Metabolism at 312.227.6120 or e-mail jbucher@luriechildrens.org.

Learn ​More

For more inform​ation regarding Marfan syndrome and related disorders, please visit the following helpful websites: