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 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, pharmacologic (medication) treatment or surgical repair.
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:
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.
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.
What to Expect
Depending upon each individual patient's clinical presentation and history, we will either recommend initial evaluation by our cardiology or genetics team.
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 they can 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 and parents) for the disease, with either echocardiography or genetic testing if the patient has a known genetic mutation.
If your child or patient already received genetic testing, please contact our clinical services coordinator Becca Kraft at 312.227.4638 or 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.
To help prepare families for their care with Lurie Children's Heart Center, we have compiled a list of resources that may be of use throughout treatment — whether it's getting ready for an inpatient stay or outpatient visit, or learning more about the support services available to patients and families.