Marfan Syndrome

Marfan syndrome is a medical condition that affects connective tissue, which holds the body’s cells, organs, and tissue together and helps the body grow and develop properly. It is a genetic disorder, meaning that it originates in the genes that are passed down from parents to children. Marfan syndrome can also occur even when caused by the parents’ genes. Connective tissue is found throughout the body, so Marfan syndrome can cause problems in many different parts of the body, including the heart, blood vessels, bones, joints, and eyes. The lungs, skin, and nervous system also may be affected. Some problems caused by Marfan syndrome, such as aortic enlargement (expansion of the main vessel that carries blood away from the heart to the rest of the body), can be life-threatening. Symptoms of Marfan syndrome may not appear until adulthood and can get worse over time. Some estimates suggest that half of the people with Marfan syndrome don’t know they have it. Treatment is available and is more effective the earlier the condition is detected and treated.


The UAB Congenital Heart Disease Program offers the most advanced care for structural heart disease, which often requires lifetime monitoring and care. Our multidisciplinary team of pediatric and adult cardiologists, cardiovascular surgeons, cardiovascular anesthesiologists, and maternal/fetal medicine specialists are uniquely qualified to treat patients before birth and into adulthood. In addition to seeing patients at the UAB Women & Infants Center and The Kirklin Clinic of UAB Hospital, UAB Medicine’s congenital heart disease specialists also see patients at North Alabama Children's Specialists in Huntsville and Physicians to Children/Central Alabama Children's Specialists in Montgomery.

Our modern ultrasound equipment allows many heart defects to be diagnosed before a child is born. Screening exams performed at 18-20 weeks are recommended for expectant mothers (or fathers) known to have congenital heart disease. If a defect is discovered, prenatal treatment and planning for delivery and postnatal treatment can be undertaken.

Thanks to advances in pediatric congenital care, the life expectancy for most patients now reaches far into adulthood, but more than 60% stop seeing a cardiologist once they turn 18. UAB’s Alabama Adult Congenital Heart Disease Program is designed to prevent that gap in care. As the only adult congenital heart disease program in the state and one of only a handful in the country, our expertise greatly increases the chances that symptoms will be identified early. This helps ensure that smaller problems are addressed before they develop into larger, more life-threatening issues such as heart failure, arrhythmia, residual congenital heart defects, endocarditis, and stroke.








UAB is an active participant in research and clinical trials for Marfan Syndrome. We encourage you to speak to your physician about research and clinical trial options and browse the link below for more information.

View Clinical Trials