Roche A. Samy
The Marfan syndrome also has been known as arachnodactyly, from the Greek works for “spider” and “fingers.” Abnormally long, slender, tapering fingers are often a feature of the disorder that Dr. Antoine Marfan first described in 1896. Symptoms may be severe or mild, and may be present at birth or show up in adult life. The disorder sometimes causes sudden death in adults who were unaware that they had it.
The Marfan syndrome affects some 20,000 persons in this country, including males and females of any race of ethnic group. The March of Dimes supports research on this and related disorders, and cooperates with other concerned organizations to keep the public informed.
Significance of Marfan Syndrome
It is a variable pattern of abnormalities that may affect the heart, blood vessels, lungs, eyes, bones and ligaments. It is one of many inherited disorders of connective tissue (material that holds tissues of the body together). Affected individuals are often tall, slender, and loose-jointed. Arms and legs may be unusually long in proportion to the torso. The spine may have a spiral curve (Scoliosis). And the breastbone may protrude or look caved in. The face may be long and narrow, with a high roof of the mouth and crowded teeth.
Heart and blood vessels nearly always are affected. Heart valves—pairs or trios of flaps that keep the blood flowing in one direction through the heart— usually are oversized and floppy. Their action during heart-beats may allow brief reverse blood flow and cause a heart murmur (an abnormal sound heard through a stethoscope). The body’s largest artery, the aorta, is nearly always affected to some extent by the Marfan syndrome. Sl blood pumped from the heart passes forcefully into the aorta, which branches out to carry oxygen-rich blood to the entire body. A defective aorta can split in places and allow blood to leak into the chest or abdomen.
In some 50% of persons with the Marfan syndrome the lens of an eye is off-center. Nearsightedness is another common symptom, whether the lens is in place or not. The light-sensing inner lining of the eye (retina) may become detached. Persons with the Marfan syndrome are more prone than others to sudden lung collapse,
Figure 1 VISIBLE SYMPTOMS OF MARFAN SYNDROME
(figure available in print form)
Causes of Marfan Syndrome
It results from a single abnormal gene. It cannot be “caught” from another person. Although it may be diagnosed at any age in a person’s life, it doesn’t occur unless the abnormal gene is present. The gene is believed to cause the disorder by producing a weaker form of one of the proteins that normally make connective tissue strong and resilient. In some families the syndrome may be the result of different mutations (changes) in this same gene, or in other genes. But, in general, the cause seems to be some single gene.
The gene is usually inherited from on parent. It is a “dominant” gene, which means that each child of a parent with the gene has a 50-50 chance of inheriting it. In about 15 percent of cases, a genetic accident (new mutation) occurs in a sperm of egg cell of an unaffected parent and so in passed on to an offspring.
A person who has such a gene and doesn’t know it may overdo physical activity which might harm vital body structures that are made up largely of connective tissue.
Test for the Marfan Syndrome
There is no single, conclusive test for the condition. A doctor or team of doctors familiar with the condition may diagnose it after examining the heart, aorta, eyes and other body parts and functions. Symptoms (problems perceived by a patient) and signs (clues that are not part of a patient’s complaint, but evident to an examiner) may be very different in different people with this condition. All the possible symptoms and signs rarely appear together in one affected person.
Treatment for Marfan Syndrome
The condition usually is treated by a team of specialists, but a single doctor who knows all its aspects usually is in charge. The greatest danger is death from a sudden split in the aorta. This may happen from the normal pumping of blood through a weak aorta or from extreme physical or emotional activity that sends the blood rushing at high pressure. Marfan patients are warned to avoid heavy exercise, contact sports, and lifting heavy objects. Regular check-ups, heart tests, and examination of the aorta using ultrasound can alert a specialist before problems become serious. Heart problems may be treated with drugs to calm heart activity.
Because of heart value abnormalities, most Marfan syndrome patients are prone to infections in those valves. They must be treated with preventive antibiotics before any kind of surgery, including tooth-pulling, to keep bacteria out of the blood stream.
An artificial heart valve, can be implanted surgically to replace a weakended valve. Afterward, the patient is given anticlotting medication on a lifelong basis, because blood tends to clot in contact with artificial valves.
Although little can be done about the outward appearance of a person with classic Marfan syndrome, physical therapy, a brace, or surgery can often correct spinal curvatures that may arise. Crowded teeth can be adjusted by an orthodontist. Early and regular eye examinations may lessen eye problems common to these patients. Detached retinas can be restored by “bloodless surgery” with lasers. A hormone specialists may help with control of spinal curves and overall growth. Psychological attention may be necessary.
