What Are the Signs and Symptoms of Marfan
Syndrome?
The signs and symptoms of Marfan syndrome vary from
one person to another, even within the same family. Some people have mild signs
and symptoms, while others may have severe problems and discomfort. Signs and
symptoms occur in many parts of the body, including:
- The bones and ligaments
- The heart and blood vessels
- The eyes
- The lungs
- The skin
Appearance and Body Build
Some of the major signs of Marfan syndrome are the
common physical features seen in people with the condition. People with Marfan
syndrome often have:
- A tall, slender body build. They may be very tall
or taller than other family members who do not have the condition. However, it
should be noted that short, heavy people also can have Marfan syndrome.
- Long arms, legs, fingers, and toes. A
persons arm span (the distance from the fingertips of one hand to the
fingertips of the other with the arms stretched out from the sides) may be
greater than his or her height.
- A long and narrow face.
- A highly arched roof of the mouth with crowded
teeth.
- A receding lower jaw, causing an overbite.
- A protruding or sunken chest.
- A curved spine.
- Flat feet that are rotated inward (some people,
however, have exaggerated arches).
Bones, Cartilage, and Ligaments
The bones of the limbs, hands, and feet often grow
too long in people with Marfan syndrome. This typically leads to a tall, thin
body with disproportionately long arms, fingers, legs, and toes. People with
Marfan syndrome have loose, relaxed ligaments and are usually loose
jointed.
Chest abnormalities may occur due to an overgrowth
of the ribs. There are two types of chest abnormalities:
- Pigeon breast, also called pectus carinatum. The
chest protrudes outward like a birds chest. This can affect heart and
lung function.
- Funnel chest, also called pectus excavatum. The
chest is sunken or indented, reducing the space between the breastbone and the
backbone. As a result, the heart and lungs are displaced. Heart and lung
function may be affected, leading to breathing and endurance problems.
Curvature of the spine may occur. It usually
develops during childhood, often gets worse during the teenage growth spurt,
and may require surgical treatment. The three main types of abnormal spine
curvature are:
- Scoliosisa side-to-side curvature
- Lordosisan inward curvature of the spine in
the lower back, just above the buttocks
- Kyphosisan outward curvature of the spine
in the upper back (hunchback)
Curvature of the spine can cause back pain, posture
problems, and deformity. Scoliosis can sometimes reduce lung function.
Another problem that can occur is dural ectasia
(ek-TA-ze-a), which is the stretching of the membrane surrounding the brain and
spinal cord. Dural ectasia can wear down the bones of the spine over time.
Symptoms may include:
- Pain in the lowest part of the back
- Pain in the abdomen
- Pain, numbness, or weakness of the legs
Dural ectasia is a hallmark of Marfan syndrome that
is very rare in the general population.
Heart and Blood Vessels
People who have Marfan syndrome often have problems
with the heart and blood vessels. The valves of the heart may not work properly
and may permit some blood flow to be reversed, causing the heart to do extra
work. The aortathe large artery that carries blood away from the heart to
the bodymay stretch and enlarge. These problems can cause signs and
symptoms, such as:
- A
heart
murmur. This can be the result of valves not functioning properly or other
heart problems.
- Sudden chest pain. This can be a symptom of
aortic dissection, a life-threatening complication that can occur due to
weakened aorta walls. The pain may occur in the front or in the back, usually
in the midline of the body. The location of the pain may change as the tear in
the aorta grows. In some cases, a dissection does not cause dramatic pain.
- Abnormal heart rhythms called
arrhythmias (a-RITH-me-as). A person with Marfan syndrome may
develop an arrhythmia as a result of problems with the heart valves or due to
cardiomyopathy
or congestive
heart failure.
- Shortness of breath and fatigue (tiredness).
These can be symptoms of heart failure due to an overworked heart.
Two of the heart and blood vessel complications that
can occur in people with Marfan syndrome are
mitral valve prolapse (MVP) and enlargement of the aorta.
Mitral Valve Prolapse
MVP is a problem with the hearts mitral valve.
The mitral valve controls the flow of blood through two of the chambers in the
heart, the left atrium and the left ventricle. The flaps of the valve are
designed to allow blood to flow in one directionfrom the left atrium into
the left ventricleand to prevent blood from flowing the other way.
In MVP, the mitral valve does not work correctly.
The valve flaps are large and floppy. They may overlap or not close completely.
One or both flaps may flutter or swing back into the atrium.
The abnormal mitral valve can allow blood to flow
backward through the valve in the wrong direction. This is called mitral
regurgitation. When this happens, the heart has to work harder to make up for
the backward flow of blood. Over time, the heart can become overworked, leading
to heart failure.
Figure A shows the normal mitral
valve separating the left atrium from the left ventricle. Figure B shows the
heart with mitral valve prolapse. Figure C shows the detail of mitral valve
prolapse. Figure D shows a mitral valve that allows blood to flow backward into
the left atrium.
MVP occurs in about 3 out of every 4 people with
Marfan syndrome. It also occurs in people who do not have Marfan syndrome. In
many people with MVP, little or no blood leaks back through the valve, there
are no symptoms, and no treatment is needed. In some people, blood does leak
back through the valve, and these people may have symptoms and require
treatment.
Enlargement of the Aorta (Aortic Dilation)
The aorta is the large artery that carries
oxygen-rich blood away from your heart out to the rest of the body. When weak
connective tissue causes the walls of the aorta to weaken, the aorta widens and
stretches. Most often, the enlargement begins where the aorta connects with the
left ventricle of the heart, just above the aortic valve. This part of the
aorta is called the aortic root.
Enlargement of the aorta can lead to several serious
complications:
- Aortic root dilation. The aorta can widen and
bulge where it attaches to the heart. This happens due to continued weakening
of the wall of the aorta. Aortic root dilation may not cause any symptoms until
it becomes quite large. If symptoms occur, they may include pain in the chest,
upper back, neck, and jaw; coughing and hoarseness; and trouble swallowing. As
part of this dilation, one section may enlarge and bulge out. This is called an
aortic aneurysm (AN-u-rism). The aneurysm can rupture, causing massive internal
bleeding, which is a life-threatening medical emergency.
- Aortic regurgitation. The aortic valve sits
between the left ventricle and the aorta and allows blood to flow one way, from
the ventricle to the aorta. In Marfan syndrome, as the aorta widens, the aortic
valve also is stretched, and the valve flaps cannot close properly. This allows
blood to leak the wrong way, from the aorta back into the left ventricle
(regurgitation). As a result, the heart has to work harder to pump blood out to
the body. The heart can become overworked, leading to heart failure. People
with aortic regurgitation may have shortness of breath and exercise
intolerance.
- Aortic dissection. This is a tear that occurs in
the weakened layers of the inner wall of the aorta. The tear allows blood to
get under the inner layer of the wall. As a result, the aorta tears further. An
aortic dissection is a life-threatening emergency. Signs and symptoms of an
aortic dissection include abrupt onset of chest pain, which may range from mild
to severe. There may be pain in the back or the abdomen, or both. The person
may sweat, vomit, faint, and have a weak pulse.
Eyes and Vision
Nearsightedness (myopia) is the most common eye
problem in people with Marfan syndrome. It can range from mild to severe.
People with Marfan syndrome often have astigmatism (a-STIG-ma-tizm), which
causes visual distortion and blurred vision.
Dislocation of the lens of the eye (ectopia lentis)
is another common complication of Marfan syndrome. It is considered a hallmark
of Marfan syndrome because it occurs in very few other conditions. It may
affect one or both eyes, and the lens may be higher or lower than normal or
shifted off to the side. Vision in the affected eye(s) may be severely
affected.
Other, less common eye problems in Marfan syndrome
include detached retina, cataracts, and glaucoma. A detached retina occurs when
there are holes or tears in the inner lining of the eye. A cataract is a
clouding of the lens. Glaucoma occurs as a result of high pressure in the eye.
People with Marfan syndrome tend to get cataracts and glaucoma at a younger age
than people who do not have Marfan syndrome.
Lungs
In Marfan syndrome, the air sacs in the lungs may be
larger than normal. This can cause breathing problems. People with Marfan
syndrome are at an increased risk of developing emphysema or
chronic
obstructive pulmonary disease (COPD), a serious lung disease.
Sudden collapse of the lung, called spontaneous
pneumothorax (noo-mo-THOR-aks) can occur in people with Marfan syndrome. About
1 in every 20 people with Marfan syndrome develops this problem. Collapsed lung
can happen after only a slight blow to the chest, or even while at rest without
a known cause. Collapsed lung usually causes sudden shortness of breath and
requires immediate medical attention.
Sleep
apnea is a problem that is often associated in the general population with
being overweight or obese. But thin people with Marfan syndrome can also suffer
from it. This may be due to looseness of the connective tissue in the
airways.
Skin
Stretch marks on the skin occur in about 2 out of
every 3 people with Marfan syndrome. The stretch marks are usually on the lower
back, buttocks, shoulders, breasts, thighs, and abdomen. They differ from
stretch marks in the general population because, in people with Marfan
syndrome, they occur without excessive weight gain or loss. The marks usually
appear around the time of puberty, but may occur in childhood. They do not
require treatment. |