Marfan Syndrome Program

Herma Heart Institute’s Marfan Syndrome Program is the largest in the state and recognized nationally for its expertise in caring for children and adults with this rare genetic connective tissue disorder. We partner with our Adult Congenital Heart Disease Program to provide the best care possible long into adulthood. Learn more about Marfan syndrome.

Experience matters

Marfan syndrome is a genetic disorder that can affect the elasticity of the 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 the syndrome a puzzle for physicians unless they have extensive experience, expertise and access to research in treating children with Marfan syndrome – like the Marfan Syndrome Program team at Children’s Hospital. 

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

Experts in heart-related complications 

The most serious complications of Marfan are defects of the heart valves and aorta – areas of expertise for Marfan Syndrome Program physicians and other Herma Heart Institute cardiologists and surgeons. 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; this is a medical emergency that is best prevented
• Mitral valve prolapse - an abnormality of the valve between the left atrium and left ventricle of the heart that causes backward flow of blood from the left ventricle into the left atrium
• Arrhythmia (or dysrhythmia) - a fast, slow, or irregular heartbeat
• Aortic regurgitation - backwards leakage of blood from the aorta, through a weakened aortic valve, and into the left ventricle, resulting in stress in the left heart and inadequate blood flow to the body

Coordinated care for all symptoms

The symptoms of Marfan syndrome 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 Program team of doctors may include cardiologists, orthopedic specialists, vision specialists (ophthalmologists), geneticists, general surgeons, radiologists and other experts.

Led by a single specialist to 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. For your convenience, appointments are available at all of our Herma Heart Institute locations.

A focus on families with Marfan syndrome

Since children born to a parent with Marfan syndrome have a 50 percent chance of having the disorder, entire families often turn to Children’s Hospital 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 Marfan syndrome treatment plan to meet each child’s and family’s physical, emotional and social needs into adolescence and beyond.