Diagnosis is key for Marfan syndrome

Graciela Gutierrez
713-798-4710
ggutierr@bcm.edu

Family wants to raise awareness of disorder.

HOUSTON -- (July 7, 2010) -- Thousands affected by Marfan syndrome, a potentially deadly disorder of the connective tissue in the body, can live a normal life span if they are properly diagnosed say doctors at Baylor College of Medicine. However, that first step is usually the hardest.

What is Marfan Syndrome

"Marfan syndrome is caused by a defect in the gene that tells the body how to make a protein that is an important part of the connective tissue," said Dr. Joseph Coselli, professor in the Michael E. DeBakey department of surgery at BCM. "Since connective tissue makes up the entire body, the disorder has many characteristics in various body systems."

Because the diagnosis is based on a clinical exam of these body systems, it is sometimes difficult for patients to get correct diagnosis.

The syndrome can affect the eyes, bones and joints, lungs, blood vessels and can even cause a sudden aortic rupture resulting in death.

Marfan syndrome can make someone grow extremely tall, have long arms or legs, a sunken chest, early glaucoma, dislocated lens in the eyes, and/or "floppy" valves in the heart. It can also cause aneurysms or a ballooning out of the aorta, the largest blood vessel in the body, which eventually requires surgical repair.

Many times doctors treat individual features without realizing they are part of a potentially fatal disorder. In emergency situations, if a Marfan patient isn't treated accordingly they could die due to complications from the disorder. For example, if someone with Marfan syndrome has an aortic dissection or rupture, they may die suddenly if the problem isn't recognized and treated immediately.

With proper monitoring and medications those who have the disorder can lead a long life-span if they receive medical management, have surgery when appropriate and make lifestyle modifications.

Treatments

"There is no specific pharmacological treatment for Marfan's syndrome," said Coselli, who is also the chief of adult cardiac surgery at the Texas Heart Institute and chief of the adult cardiac surgery section, as well as associate chief of the cardiovascular service at St. Luke's Episcopal Hospital. "Rather than treating the underlying issue, right now we can only treat the symptoms."

Coselli treats the heart and aortic issues that Marfan patients face. He has served on the Professional Advisory Board of the National Marfan Foundation since 1992.

"If a person has this disorder, they will most likely require surgery to repair or replace the aortic valve," he said.

Another form of treatment is to control blood pressure. If the dilation of the valve is too great, it could cause dissection or a rupture leading to death.

It's not just different treatments, it is different doctors that are needed. Marfan patients commonly suffer from dislocated lenses in their eyes and scoliosis. For those issues, ophthalmologist and orthopedic doctors are needed.

Reaching out for answers

The National Marfan Foundation's annual conference will be held at the InterContinental Hotel in Houston July 8 -11. A special health assessment day will be held at the Baylor Clinic on July 9. The event is co-sponsored by BCM and the University of Texas Health Science Center at Houston.

The conference gives people with Marfan syndrome and related disorders and their families the opportunity to meet leading researchers and physicians to learn about new medical research, be examined by specialty doctors and talk with other affected individuals for advice and support.

Research

Coselli and his colleagues at BCM are playing a leading role in a National Marfan Foundation-funded study. The research compiles data from 20 surgical centers across the globe and is comparing the results of two types of aortic surgery common in Marfan syndrome. The investigators are hoping to answer questions about the long-term effectiveness of each procedure and which types of patients are better suited for each surgery.

Other critical research is being conducted at the Texas Children's Hospital, which is one of the 27 sites taking part in a trial testing the effects of a commonly prescribed blood pressure medication, losartan, versus atenolol, the beta-blocker treatment that is the current gold standard of treatment for Marfan syndrome. Dr. John Jefferies, assistant professor of pediatric cardiology at BCM and Texas Children's Hospital, is the lead investigator for this study.

The lab of Dr. Dianna Milewicz, President George H.W. Bush Chair of cardiovascular medicine and professor and director of the division of medical genetics at UT Health Science Center, is focusing on genetics of families with related disorders and understanding how defective genes alter smooth muscle cell function. Children's Memorial Hermann and Memorial Hermann are also involved in this research.

For more information on Marfan syndrome, log onto the National Marfan Foundation’s website at www.marfan.org.

The study Akiva is taking part is called the Pediatric Network Marfan Trail. You can find more information by logging onto www.pediatricheartnetwork.com.

Was this article helpful? .