Marfan Syndrome

Marfan syndrome is a rare, inherited disorder of connective tissue and growth. The disease affects several parts of the body.

The disease is highly variable, which means that different people with the condition will have different parts of their body affected to a greater or lesser degree.

The features of Marfan syndrome result from changes in the body's connective tissue and in the control of body growth. Connective tissue holds our bodies together. It is found throughout the body, which is why it can affect many different parts of the body.

Marfan syndrome most commonly affects the heart and blood vessels, the bones and joints and the eyes. It can also affect the lungs and the skin. The number and type of features that are present can vary a lot between different people with Marfan syndrome. Some will have only a few features, while others will have many.

Our Approach to Marfan Syndrome

UCSF provides comprehensive, specialized care for patients with Marfan syndrome. There's no single test for this inherited disorder, and its symptoms vary by patient, often affecting several parts of the body. That's why our team includes experts in genetics, cardiology, orthopedics, ophthalmology and other specialties. They work together to evaluate each patient and tailor the treatment plan to address individual needs.

The most serious feature of Marfan syndrome is that the heart's aorta (main artery) may widen, leading to the possibility of a rupture. The medical team may manage this with medications, regular echocardiograms or preventive surgery.

Patients have access to world-class care at our cardiovascular genetics program – the first such program in Northern California and one of a select few across the country. Specialists in inherited heart conditions offer evaluations, genetic testing and counseling, customized treatment plans and help in addressing the complex psychological and familial issues that can accompany a genetic disorder.