The UCSF Heart and Vascular Center has opened a clinic specializing in Marfan syndrome and related disorders as part of the new UCSF Program in Cardiovascular Genetics. The program, which is directed by geneticist Robert Nussbaum, MD, and genetic counselor Colleen Brown, is also inaugurating clinics in familial cardiomyopathies and in genetic arrhythmias.
The cardiovascular genetics program is an example of a growing trend: greater integration of the field of genetics into adult medicine. As the knowledge about genetic mechanisms of disease advances and new molecular tests and therapies are developed, geneticists and genetic counselors are moving from simply serving as consultants to becoming full partners with their colleagues in other medical subspecialties. Genetics in cardiology is one of the newest and fastest growing areas in medicine, and UCSF's program is one of the first on the West Coast.
"This is an organized program where there is a high level of expertise in the diagnosis and care of these patients, and we can offer new therapies and treatments as soon as they are available," says Nussbaum. "Also, with our emphasis on family outreach, the families receive the counseling and care they need. The entire family is our patient, not just the individual in front of us."
Once the diagnosis is made in one person in a family, it is important to evaluate relatives for Marfan syndrome because they can develop life-threatening aortic aneurysms. Signs of the disease vary widely, and someone may have the mutation, but display few obvious signs. To make a definitive diagnosis, thorough evaluations are needed by doctors specializing in all the different parts of the body that Marfan syndrome can affect. This includes cardiology, ophthalmology, orthopedics and genetics. Echocardiography and genetic testing can also help make the diagnosis.
Broad Effects
Marfan syndrome is caused by a mutation in the fibrillin-1 (FBN1) gene, which codes for an important component of connective tissue. The disorder affects the skeleton, eyes, nervous system, skin, lungs, heart and blood vessels. Many patients are exceptionally tall, slender, loose-jointed, and have long fingers and toes and a long, narrow face. Both orthopedic and eye disorders are common. The most life-threatening complications are the cardiovascular sequelae associated with Marfan syndrome, which may lead to aortic dissection, severe mitral regurgitation and heart failure.
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Marfan Syndrome Characteristics
• Skeleton: tall; slender; loose-jointed; long, narrow face; long arms; long fingers and toes; scoliosis
• Heart: dilated aorta; defective valve between the left chambers
• Eye: dislocation of one or both lenses of the eye; myopia
• Nervous system: dural ectasia; weakened dura on lower spine, causing pain in the abdomen or pain, numbness or weakness in the legs
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UCSF's Marfan Clinic is unique because, in a single day, every patient receives a full evaluation and sees every relevant specialist. Each of these assessments contributes to the diagnostic evaluation. The goal is to complete all relevant evaluations in a coordinated and integrated fashion, so that families leave the hospital with a diagnosis and comprehensive medical plan.
"It can be a huge burden and very overwhelming for these families when they have so many specialists to see," says Brown.
Nussbaum and Brown work with referring physicians throughout the evaluation process and recommend that physicians refer patients to UCSF if they have any suspicion that their patients have Marfan syndrome or a disorder that resembles Marfan syndrome.
For more information about the Program in Cardiovascular Genetics, contact genetic counselor Colleen Brown at (415) 476-3202.
(This story appears in the most recent issue of the UCSF Heart and Vascular News.)
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UCSF Medical Center Heart and Vascular Center
