Connective Tissue Disorders Program

The Connective Tissue Disorder Program at Lurie Children’s provides comprehensive care and genetic counseling to 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, which supports and holds together many parts of the human body. Because connective tissue is found throughout the body, some of these disorders af​fect 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, pharmacologic (medication) treatment or surgical repair.

Our care is family-centered​ and includes support for the whole family. We also collaborate with the Lurie Children's Adult Congenital Heart Disease Program and the Bluhm Cardiovascular Institute at Northwestern Memorial Hospital to help pediatric patients transition to adult care as well as to assist in family screening. 

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

If you or your child has been diagnosed, it is important to receive medical care from a cardiologist who has experience with this condition. Because changes in valve function, size of the aorta and/or heart function occur over time and are different for every individual, lifelong monitoring is important. Your cardiologist may recommend a variety of tests, including:

• Echocardiogram: A test that uses sound waves to create moving pictures of your child’s heart. This test provides important information about heart and valve function and usually takes one hour to complete.
• Cardiac magnetic resonance imaging (MRI): A test that uses a strong magnet and pulsed radio waves to create detailed images of the heart that may not be obtainable by ultrasound. An MRI typically takes over an hour. 
• Computerized tomography (CT): A test that offers a detailed look at internal organs, bones, blood vessels and soft tissues. 
• Cardiac magnetic resonance angiography (MRA): A test that uses a strong magnet and pulsed radio waves to detect problems with the aorta and other blood vessels.
• 4-D MRI scan: A cutting-edge technology developed and used at Lurie Children’s and other select institutions.

If your child or patient has not yet received genetic testing, please contact the Division of Genetics, Genomics and Metabolism at 312.227.6120.

If your child or patient already received genetic testing, please call 312.227.4100 or email CTDCardiology@luriechildrens.org. Additionally, please send all cardiology records and genetics results to the Division of Cardiology via fax: 312.227.9640.

In addition to in-person visits, we now offer telemedicine visits via video or phone. Some appointments will still require you to be seen in-person, but your physician and care team will let you know if a telemedicine appointment is available.

Please note, we see new patients ages 0–18 years old. If you are above 18 years of page, please reach out to Northwestern Medicine's Bluhm Cardiovascular Institute to be seen by a cardiologist that specializes in adult care of connective tissue disorders. They can be reached at 312.664.3278. The Connective Tissue Disorders program also does not complete diagnostic evaluations for hypermobile Ehlers-Danlos syndrome.

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