People can be born with Marfan syndrome which affects the body’s connective tissue. Connective tissue holds together all of the body's cells, organs, and joins. It plays a major role in helping the body grow and develop correctly.
Marfan syndrome is caused by a defect/ mutation in the gene that instructs the body how to make fibrillin-1, a protein critical for connective tissue development.
Prevalence of Marfans
Approximately 1 in 5000 people have Marfan syndrome, and usually it is passed down to children. An adult with Marfan's has a 50% chance of passing it on to their child. In 25% of cases, it can result from a random mutation in genes.
Signs and Symptoms
Marfan syndrome can affect different parts of the body. Not all patients have the same symptoms, but commonly patients are tall with long arms, legs and fingers. Marfan's can also affect the eyes, spine, feet, joints, teeth and lungs. Other symptoms include flat feet, crowded teeth, and stretch marks on the skin unrelated to weigh gain or loss.
Most significantly, Marfan's can affect the heart, with patients developing problems with their aorta (the large blood vessel that carries blood away from the heart to the rest of the body) and heart valves.
Patient should go their doctor with their list of symptoms. They may need to see a genetics doctor for diagnosis as well as other experienced doctors on a regular basis for procedures including eye exams, heart ultrasounds, EKGs, and possibly CT/MRI scans. For more patient information and resources, click here.
Why see an Adult Congenital Heart Disease specialist?
As patients diagnosed with Marfan syndrome get older, they face new challenges. ACHD specialists can help assess and discuss the risks associated with Marfan syndrome, including the proper treatment and management of Marfan's for potential parents.