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Vital Signs

 
Summer 2010

Newer Therapies Improve Prognosis for Marfan Syndrome Patients

06/23/2010

VS-Summer10-Marfan SyndromeMarfan syndrome is a connective-tissue disorder that most commonly affects the eyes, skeletal system and heart. People with the condition usually have a tall, thin build, long limbs and flexible joints, and may also have a curved spine or a chest that curves in or sticks out.

While Marfan syndrome is present at birth in those affected by the condition, it “is harder to detect at earlier ages when children are still growing,” explains UCLA pediatric cardiologist Gregory Perens, M.D. The condition sometimes is not diagnosed until children reach their teens or adulthood.

“The signs of Marfan syndrome often overlap with normal findings of someone being tall and thin and having flexible joints, and the symptoms of the condition, such as weakening of the aorta, may be silent for years,” he says. Cardiovascular complications of Marfan syndrome are serious and may potentially cause sudden death.

To diagnose the condition before life-threatening symptoms occur, specialists rely on clinical criteria, which include measurements of height, arm span and skeletal signs, as well as an echocardiogram of the heart and an ophthalmic exam to check for eye problems consistent with Marfan syndrome, such as a dislocated lens. A family history of Marfan syndrome, which is a dominant genetic disease, is also an important factor in diagnosing the disorder. Parents with Marfan syndrome have a 50 percent chance of passing the altered gene to their children.

The comprehensive clinical examination and review of the family history are the most important factors in making a diagnosis of Marfan syndrome. Genetic testing, says Michelle Fox, a genetic counselor at UCLA and coordinator of the UCLA Marfan Clinic, though expensive, can help confirm the diagnosis, which provides an important incentive for siblings and other relatives to be evaluated and treated for Marfan syndrome.

Thirty years ago, the average Marfan syndrome patient could expect to live less than 50 years, about two-thirds the life span of people without the disease, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Today, the average life expectancy for a Marfan syndrome patient has increased to 70 years or more.

“Before the age of beta blockers, angiotensin receptor blockers, cardiac imaging and surgical advances, Marfan syndrome patients lived with a sword hanging over their heads because their aorta could suddenly dissect without warning,” explains cardiologist Jamil Aboulhosn, M.D., co-director of the Ahmanson/UCLA Adult Congenital Heart Disease Center. Now, new technologies allow cardiologists to monitor patients closely over time to evaluate their risk for aortic dilation, aneurysm or dissection, as well as for mitral valve prolapse, and intervene surgically before the condition becomes life-threatening.

 Additionally, research has shown that losartan, an angiotensin receptor blocker (ARB) traditionally used to control blood pressure, effectively stabilizes the aorta, with initial data suggesting this medication may also reduce the risk of aortic dilation and dissection in people with Marfan syndrome. Dr. Aboulhosn says ARBs, in addition to beta blockers, have been found to provide additional benefit over beta blockers alone.

For more information about Marfan syndrome, go to: http://www.marfan.org





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