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 starts in the genes that are passed down from parents to children. Because connective tissue is found throughout the body, Marfan syndrome can cause problems in many areas, 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 can be life-threatening, such as aortic enlargement (expansion of the aorta, the main vessel that carries blood from the heart to the rest of the body). Symptoms of Marfan syndrome may not appear until adulthood and can get worse over time. Some estimates suggest that half of the people with the condition don’t know they have it. Available therapies are more effective the earlier the condition is detected and treated.

UAB Medicine operates a Marfan Syndrome and Related Disorders Clinic, which is a multi-specialty clinic that includes physicians from the UAB Department of Pediatric Cardiology and the UAB Department of Genetics. Services offered include physical exams, echocardiogram/EKG, and genetic testing for diseases and conditions of the aorta, when needed. The clinic’s genetic counselor works with patients to help them better understand their condition and evaluate their risk for medical issues based on genetic testing results.

Because Marfan syndrome can affect the heart, patient care also may be provided by the UAB Congenital Heart Disease Program. The program offers the most advanced care for congenital (present at birth) heart disease, which often requires lifetime monitoring and care. Our multi-specialty team of pediatric and adult cardiologists, cardiovascular surgeons, cardiovascular anesthesiologists, and maternal-fetal medicine specialists have unique expertise in treating patients before birth and into adulthood.

UAB Medicine’s 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 expecting mothers or fathers known to have congenital heart disease. If a defect is discovered, our experts provide prenatal treatment and develop a plan for delivery and treatment after birth.

Thanks to advances in pediatric congenital care, the life expectancy for most patients now reaches far into adulthood. However, more than half of the people with congenital heart problems 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 few in the country, our expertise greatly increases the chances that symptoms will be identified early. This helps ensure that less serious problems are addressed before they develop into larger, more life-threatening issues such as heart failure, arrhythmia, residual congenital heart defects, endocarditis, and stroke.