Specialties & Conditions Connective Tissue Disorders Program
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 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.
Our Team
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:
Cardiology
Joseph A. Camarda, MD
Attending Physician, Cardiology
Assistant Professor of Pediatrics (Cardiology), Northwestern University Feinberg School of Medicine
Kelly L. Cox, MD
Attending Physician, Cardiology
Assistant Professor of Pediatrics (Cardiology), Northwestern University Feinberg School of Medicine
Elizabeth S. Cappella, APRN-NP
Pediatric Nurse Practitioner, Connective Tissue Disorders Program
Kali Hensley, RN
Registered Nurse
Cardiovascular-Thoracic Surgery
Michael C. Mongé, MD
Surgical Director, Heart Failure/Heart Transplant Program; Attending Physician, Cardiovascular-Thoracic Surgery; Member, Lurie Children's Surgical Foundation
Assistant Professor of Surgery (Cardiac Surgery), Northwestern University Feinberg School of Medicine
Genetics
Judith Marshall, MS, APRN-NP, FNP
Family Nurse Practitioner, Genetics, Genomics and Metabolism
Sarah Jurgensmeyer, MS, CGC
Genetic Counselor
Angelique E. Mercier, MS, CGC
Genetic Counselor
The Lurie Children's Difference
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.
Conditions We Treat
Our specialists evaluate and treat a wide range of connective tissue disorders that can involve the heart and blood vessels, including:
- Aortopathy (dilated root & abnormalities of the aorta)
- Ehlers-Danlos Syndrome
- Familial Thoracic Aortic Aneurysms/Dissections
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Undefined (undifferentiated) connective tissue disorders
Medical Care & Testing
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.
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.
Appointments/Referrals
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.
Second Opinions
For families or providers seeking a second opinion, we offer a Priority Second Opinion Clinic.
Heart Center Family Resource Guide
To help prepare families for their care with Lurie Children's Heart Center, we have compiled a list of resources about treatment and recovery. Learn how to get ready for an inpatient stay or outpatient visit, and read about our support services for patients and families.
Additional Resources & Support
For more information regarding Marfan syndrome and related disorders, please visit the following helpful websites: