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Marfan Syndrome

Inherited Thoracic Aortic Diseases

There is a group of rare inherited diseases that result in aneurysms, dissections and other problems of the thoracic aorta, including Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysm and dissection syndrome. Successful management requires expert diagnosis and appropriate treatment and follow-up. Proper therapy can often be life-saving.

Understanding Marfan Syndrome

Marfan syndrome is a genetic disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. It affects men and women of any race or ethnic group. Although it is estimated that more than 200,000 people in the United States have Marfan syndrome or a related connective tissue disorder, the syndrome can be difficult to recognize. Marfan patients are at high risk for thoracic aortic aneurysm formation and aortic dissection.

Because Marfan syndrome is an autosomal dominant disorder, each child of an affected Marfan parent has a 50 percent chance of inheriting the condition. About 75 percent of Marfan syndrome cases are inherited, while approximately 25 percent are a result of a spontaneous mutation (or change) in the gene responsible for the condition. 

Common traits of people with the syndrome include being exceptionally tall and lanky, loose-jointed, with long, spidery fingers. Other outward physical symptoms include a curved spine, a chest bone that curves in or out (pectus deformity), a narrow elongated head, nearsightedness, and stretch marks on the skin. Recurrent hernias and collapsed lungs (pneumothorax) may also complicate Marfan syndrome.

The most serious complications of Marfan syndrome are thoracic aortic aneurysm and aortic dissection, mitral valve disease, visual loss secondary to lens dislocation or retinal detachment, and spine abnormalities (scoliosis). If Marfan syndrome is not recognized, an aortic dissection can lead to death in an otherwise unsuspecting young person. If the disorder is diagnosed and the patient’s aortic size is evaluated with an echocardiogram at regular intervals, preventive surgical repair can be performed. Then the lifespan of someone with Marfan syndrome can extend into the 70s and beyond.

Treatment Approach to Marfan Syndrome

Marfan syndrome is typically treated medically and corrected surgically. Beta-blockers can reduce stress on the aorta. Research is uncovering other medications that may benefit patients with Marfan syndrome.

At least once a year, patients with Marfan syndrome need cardiovascular exams with echocardiograms to monitor the size of their aorta and to detect any other heart problems. Frequent eye exams and skeletal exams also are recommended. Lifestyle modifications are also necessary to reduce the stress on the aorta. Many patients will need heart surgery to replace the aorta and treat valve lesions. Aortic surgery for Marfan syndrome is highly specialized and requires expertise from an experienced cardiothoracic surgeon.

The Barnes-Jewish & Washington University Heart & Vascular Center has one of the largest Marfan syndrome clinics in the country. Our dedicated professionals have experience managing Marfan syndrome and related disorders. With one visit to the center, patients can receive an echocardiogram and be seen by a cardiologist, geneticist and genetic counselor, and undergo a slit lamp eye exam by an ophthalmologist. Evaluation by a cardiac surgeon, spine specialist (orthopedic surgeon), high-risk obstetrician or vascular surgeon can be arranged as needed on an individual basis.

To make an appointment with a Washington University heart or vascular specialist at Barnes-Jewish Hospital, call 855.925.0631.