Marfan Syndrome
What is Marfan syndrome?
Marfan syndrome is a heritable
condition that affects the connective tissue.
The primary purpose of connective tissue is to hold the body together
and provide a framework for growth and development. In Marfan syndrome, the
connective tissue is defective and does not act as it should. Because connective
tissue is found throughout the body, Marfan syndrome can affect many body
systems, including the skeleton, eyes, heart and blood vessels, nervous system,
skin, and lungs.
Marfan syndrome affects men, women, and children, and has been found among
people of all races and ethnic backgrounds. It is estimated that at least 1 in
5,000 people in the United States have the disorder.
What are the characteristics of Marfan syndrome?
Marfan syndrome affects different people in different ways. Some people have
only mild symptoms, while others are more severely affected. In most cases, the
symptoms progress as the person ages. The body systems most often affected by
Marfan syndrome are:
- Skeleton--People with Marfan syndrome are typically very tall, slender, and
loose jointed. Since Marfan syndrome affects the long bones of the skeleton,
arms, legs, fingers, and toes may be disproportionately long in relation to the
rest of the body. A person with Marfan syndrome often has a long, narrow face,
and the roof of the mouth may be arched, causing the teeth to be crowded. Other
skeletal abnormalities include a sternum (breastbone) that is either protruding
or indented, curvature of the spine (scoliosis), and flat feet.
- Eyes--More than half of all people with Marfan syndrome experience
dislocation of one or both lenses of the eye. The lens may be slightly higher or
lower than normal and may be shifted off to one side. The dislocation may be
minimal, or it may be pronounced and obvious. Retinal detachment
is a possible serious complication of this disorder. Many people with Marfan
syndrome are also nearsighted
(myopic), and some can develop early glaucoma (high pressure within
the eye) or cataracts (the eye's
lens loses its clearness).
- Heart and blood vessels (cardiovascular system)--Most people with Marfan syndrome have
abnormalities associated with the heart and blood vessels. Because of faulty
connective tissue, the wall of the aorta (the large artery that carries blood
from the heart to the rest of the body) may be weakened and stretch, a process
called aortic dilatation. Aortic dilatation increases the risk that the aorta
will tear (aortic dissection) or rupture, causing serious heart problems or sometimes sudden
death. Sometimes, defects in heart valves can also cause problems. In some
cases, certain valves may leak, creating a "heart murmur,"
which a doctor can hear with a stethoscope. Small leaks may not result
in any symptoms, but larger ones may cause shortness of breath, fatigue, and
palpitations (a very
fast or irregular heart rate).
- Nervous system--The brain
and spinal cord are surrounded by fluid contained by a membrane called the
dura, which is composed of connective tissue. As people with Marfan syndrome
get older, the dura often weakens and stretches, then begins to weigh on the
vertebrae in the lower spine and wear away the bone surrounding the spinal
cord. This is called dural ectasia. These changes may cause only mild
discomfort or may lead to radiated pain in the abdomen or to pain, numbness,
or weakness of the legs.
- Skin--Many people with Marfan syndrome develop stretch marks on their skin,
even without any weight change. These stretch marks can occur at any age and
pose no health risk. However, people with Marfan syndrome are also at increased
risk for developing an abdominal or inguinal hernia where a bulge
develops that contains part of the intestines.
- Lungs--Although connective tissue abnormalities make the tiny air sacs within
the lungs less elastic, people with Marfan syndrome generally do not experience
noticeable problems with their lungs. If, however, these tiny air sacs become
stretched or swollen, the risk of lung collapse may increase. Rarely, people
with Marfan syndrome may have sleep-related breathing disorders such as snoring
or sleep apnea (a sleep disorder characterized by brief periods when breathing
stops).
Next: What causes Marfan syndrome? »
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Marfan Syndrome
Scoliosis »
What is scoliosis?
Scoliosis is a disorder that causes an abnormal curve of the spine, or backbone. The spine has normal curves when looking from the side, but it should appear straight when looking from the front. Kyphosis is a curve seen from the side in which the spine is bent forward. Lordosis is a curve seen from the side in which the spine is bent backward. People with scoliosis develop additional curves to either side, and the bones of the spine twist on each other like a corkscrew.
Scoliosis is about two times more common in girls than boys. It can be seen at any age, but it is most common in those over 10 years old. Scoliosis is hereditary in that people with scoliosis are more likely to have children with scoliosis; however, there is no correlation between the severity of the curve from one generation to the next.
What causes scoliosis?
In most cases, the cause of scoliosis is unknown (idiopathic). This type of
s...
Read the Scoliosis article »
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