Heart & Vascular Institute

Conditions We Treat: Marfan Syndrome

Marfan syndrome is a genetic disorder of the connective tissue — the cells that support or connect different structures in the body. People with Marfan syndrome may have long, thin arms and legs, chest wall abnormalities, a curved spine and lens dislocation or severe myopia (nearsightedness). Marfan syndrome's most dangerous features are enlargements of the aorta and defects of the heart's mitral valve.

Marfan Syndrome: What You Need to Know

In two thirds of cases the condition is inherited, but each person can have a different subset of possible symptoms.
Diagnosis may involve an echocardiogram, a slit-lamp eye exam, a skeletal examination, family history and genetic testing.
Because Marfan syndrome affects many different systems of the body, you should be treated by a team of health care professionals knowledgeable about the range of potential effects.
Goals of treatment are to reduce stress on the aorta, obtain good vision correction and reduce bone and muscle complications and pain. In some cases surgery may be necessary.

Although Marfan syndrome shares features with other connective-tissue disorders such as Loeys-Dietz, Shprintzen-Goldberg and Ehlers-Danlos syndromes, it stems from different genetic mutations. The conditions are also managed differently.

Patient Resources

Learn more about Marfan syndrome in our Health Library.

Meet Dr. Harry (Hal) Dietz, whose discovery of genes for Loeys-Dietz and Marfan syndromes is contributing to treatments for these and other conditions..

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Why choose Johns Hopkins Heart and Vascular Institute for treatment of Marfan Syndrome?

Our Physicians

Our physicians are world experts in the diagnosis and treatment of Loeys-Dietz syndrome.

For Cardiovascular Complications

Black, James Hamilton, MD

Cameron, Duke Edward, MD

Dietz, Harry C, MD

Pardo, Jennifer, MD

For Orthopaedic Complications

Sponseller, Paul David, MD

For Pulmonary Complications

Neptune, Enid Rose, MD

Our Specialty Centers

Johns Hopkins is one of the premier centers specializing in the research, diagnosis and treatment of Marfan syndrome.

Learn about the Johns Hopkins Comprehensive Marfan Center.

Our Research

Discovering Marfan syndrome's genetic cause — a flawed protein in connective tissue — should have convinced doctors to give up on finding a real treatment. But Johns Hopkins researchers kept digging and found a way to treat the flaw using a decades-old medication.