Marfan's syndrome (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Overview
Marfan's syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. [1]
What are the symptoms of Marfan's syndrome?
- People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height.
- Nearsightedness
- Learning disability
What causes Marfan's syndrome?
Marfan's syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.
The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
- Lung tissue
- The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
- The eyes, causing cataracts and other problems
- The skin
- Tissue covering the spinal cord
In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.
Diagnosis
Physical exam
Physical examination findings include
Head
- Thin, narrow face
- Highly arched palate and crowded teeth
- Small lower jaw (micrognathia)
Eye
- Defects of the lens or cornea
- Retinal detachment
- Vision problems
Heart
- Aneurysm
- Collapsed lung
- Heart valve problems
Extremities
Others
- A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
- Spine that curves to one side (scoliosis)
Testing
- Echocardiogram
- Fibrillin-1 mutation testing (in some people)
- An echocardiogram should be done every year to look at the base of the aorta.
When to seek urgent medical care?
Experts recommend genetic counseling for couples with a history of this syndrome who wish to have children.
Treatment options
- Vision problems should be treated when possible.
- Monitoring for scoliosis, especially during adolescence.
- Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve.
- People with Marfan's syndrome should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan's syndrome must be monitored very closely because of the increased stress on the heart and aorta.
Where to find medical care for Marfan's syndrome?
Directions to Hospitals Treating Marfan's syndrome
Prevention of Marfan's syndrome
Spontaneous new gene mutations leading to Marfan (less than 1/3 of cases) cannot be prevented.
What to expect (Outlook/Prognosis)?
Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further.
Possible complications
Complications may include:
- Aortic regurgitation
- Aortic rupture
- Bacterial endocarditis
- Dissecting aortic aneurysm
- Enlargement of the base of the aorta
- Heart failure
- Mitral valve prolapse
- Scoliosis
- Vision problems