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Getting To The Heart Of Marfan Syndrome

February 9, 2012

Some doctors might see a patient with Marfan syndrome once or twice a year. But Dr. Joseph Coselli, professor of surgery at Baylor College of Medicine and chief of adult cardiac surgery at the Texas Heart Institute, sees on average one or more a week.

While Marfan syndrome is a disease of the connective tissue and can affect many areas on the body, it can become deadly when it affects the heart or aorta.

What is Marfan syndrome?

Marfan syndrome is caused by a defect in a gene that helps produce a protein important to the formation of connective tissue, which is found throughout the entire body.

People who have Marfan syndrome have health problems related to the eyes, bones, joints and lungs. They can grow extremely tall, have long arms or legs and a sunken chest.

The disorder can also cause what many doctors refer to as “floppy” valves in the heart, or may cause aneurysms or ballooning of the aorta which eventually requires surgical repair to prevent rupture or death.

“We can not as yet directly treat the disease itself, but we can work to improve each individual´s symptoms and quality of life. Each person is affected differently by the disease, and there is a great deal of variation in how the disease manifests itself. This can play a role in the timing of treatment and the options when it comes to repairing the heart or aorta,” said Coselli.

Repairing the heart

Coselli has been involved in the treatment of Marfan symptoms for most of his career and has been a member of the Professional Advisory Board for the National Marfan Foundation since 1992. In 2010, the NMF Annual Conference was held in Houston and co-sponsored by BCM and the University of Texas Health Science Center at Houston. Coselli´s involvement with the NMF helped bring the conference to Houston as well as helped to make BCM, St. Luke´s Episcopal Hospital and the Texas Heart Institute, major sites for Marfan and heart related studies.

National registry

Coselli and his team have treated hundreds of patients with Marfan syndrome surgically for their cardiovascular problems. He also participates in the GenTAC (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Conditions) study, and consequently seeks to enroll as many of his patients as possible.

“We know some heart events can be triggered by lifestyle choices, but this study is looking at the role genetics play in the susceptibility to these events,” said Coselli.

The goal is to create a registry of clinical data and samples on patients with aneurysms and dissections that are caused by genetics, including Marfan syndrome.

Patients with the following syndromes are also asked to volunteer:

    Bicuspid Aortic Valve
    Loeys-Dietz syndrome
    Familial thoracic aortic aneurysms and dissections
    Turner syndrome
    Vascular Ehlers Danlos syndrome
    Familial bicuspid aortic valve
    Aneurysms/dissections < 50 years of age

BCM is one of eight sites participating in the study. For more information on qualifications and locations contact the Data Coordinating Center at 1-800-334-8571, ext 24640.

The results of a separate multicenter study, the Aortic Valve Operative Outcomes in Marfan Patients, are currently being evaluated. The study looked to determine what type of treatment, aortic valve replacement or sparing (repairing), would have the best outcome for patients with Marfan syndrome. Once the results are finalized, surgeons and patients will have another resource to help make the best treatment decisions.

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