Marfan Syndrome and Connective Tissue Disorders Program

Herma Heart Institute’s Marfan Syndrome and Connective Tissue Disorders Program is the largest in the state of Wisconsin and is recognized nationally for its expertise in caring for children and adults with these rare genetic connective tissue disorders. We partner with our Adult Congenital Heart Disease Program to provide the best care possible long into adulthood.

Learn more about Marfan syndrome

Why experience matters in diagnosing and treating connective tissue disorders

Marfan syndrome and other connective tissue disorders are genetic disorders that can affect the elasticity several areas of the body, including:

• Blood vessels
• Skin
• Lungs
• and many other body functions

Even though it runs in families, the impact for each child can be very different. That often makes diagnosing connective tissue disorders difficult for physicians unless they have extensive experience, expertise and access to research in treating children.

At Children’s Wisconsin, our team puts into practice the decades of advances in diagnosing, monitoring and managing complications of connective tissue disorders. The result is improved life expectancy for patients with Marfan syndrome and other connective tissue disorders. In the past, without proper diagnosis and treatment, people with connective tissue disorders had their lives shortened by an average of fifty percent due to complications related to the heart and vascular system. 

Experts in heart-related complications of connective tissue disorders

The most serious complications of connective tissue disorders are defects of the heart valves and aorta – areas of expertise for Marfan Syndrome and Connective Tissue Disorders Program physicians. These complications often include:

• Aortic aneurysm and dissection: weakening of the layers inside the aorta, which can burst or can tear and leak blood into the chest or abdomen
• Mitral valve prolapse: an abnormality of the valve by that causes backward flow of blood from the left ventricle into the left atrium of the heart
• Arrhythmia (or dysrhythmia): a fast, slow, or irregular heartbeat
• Aortic regurgitation: backwards leakage of blood from the aorta into the left ventricle of the heart, resulting in stress in the left heart and inadequate blood flow to the body

Supporting families living with connective tissue disorders

Since children born to a parent with connective tissue disorder have a 50 percent chance of having the disorder, entire families often turn to Children’s Wisconsin for genetic testing and care. They trust our ability to provide the latest diagnostics and innovative treatment in cardiology, orthopedics, genetics and related subspecialties. Our team of experts creates a customized connective tissues disorder treatment plan to meet each child’s and family’s physical, emotional and social needs into adolescence and beyond.

Coordinated care for all symptoms of connective tissue disorder

Marfan syndrome symptoms can affect muscles, bones, skin, the lungs and eyes – just about any part of the body. For that reason, based on each child’s needs, the Marfan Syndrome and Connective Tissue Disorders Program utilizes a team of specialists from cardiology, orthopedics, ophthalmology, genetics, surgery, imaging and more. 

Led by two specialists who oversee care and make referrals as needed, the team makes sure that all health issues are covered completely in a coordinated, convenient way. This includes nutrition, family education and all other aspects of providing the most complete care for children and their families.