Marfan Syndrome Symptoms
Marfan syndrome symptoms affect 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 symptoms of Marfan syndrome are:
- Cardiovascular System (Heart and blood vessels) - 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.
- 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).
- 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 symptoms
(a sleep disorder characterized by brief periods when breathing stops).
Marfan syndrome occurs in healthy people as well as in people with other
connective tissue disorders, having symptoms doesn't necessarily mean you have
the disease. Talk to your doctor or pediatrician, if they suspect a problem, you
will likely be referred to a specialist for further evaluation.
Marfan Syndrome Symptoms to M
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