(also known as Marfans Syndrome)
If a family member died as a result of the misdiagnosis or delayed diagnosis of
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Marfan syndrome (or Marfan's syndrome) is an inherited
disease, caused by an abnormal gene on chromosome 15,
that affects the connective tissue within the body.
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, nervous system, skin,
lungs, and the heart and blood vessels (the
cardiovascular system). The most serious problems
associated with the Marfan syndrome involve the
cardiovascular system. The two leaflets of the mitral
valve may billow backwards when the heart contracts
(mitral valve prolapse). This can lead to leakage of
the mitral valve or irregular heart rhythm. In
addition, the aorta, the main artery carrying blood
away from the heart, is generally wider and more
fragile in patients with the Marfan syndrome. This
widening is progressive and can cause leakage of
the aortic valve or tears (dissection) in the aorta
wall - causing serious heart problems and sometimes
sudden death. When the aorta becomes greatly widened,
or tears, surgical repair is necessary.
Marfan syndrome affects men, women, and children,
and has been found among people of all races and
ethnic backgrounds. It is caused by a defective
gene that controls the formation of the protein
fibrillin in the connective tissue. This an
autosomal dominant defect, which means that only
one parent must have the abnormal gene in order
for a child to inherit the disease. But in some
cases, the gene defect is a spontaneous mutation
that occurs with no family history of the disease.
Marfan syndrome affects about 1 in 5,000 Americans.
It is estimated that at least 200,000 people in
the United States have the Marfan syndrome or a
related connective tissue disorder.
Signs and symptoms of Marfan syndrome:
There are various signs and symptoms that may
indicate a patient has Marfan syndome. These
signs and symptoms include:
These are only some of the signs and symptoms that
can be associated with Marfan syndrome. The symptoms
may be mild or severe, and may be present at birth or
appear in childhood or in adult life. In many cases,
the disorder progresses as the person ages. When signs
and symptoms are present, the patientís physician
should be alerted to the possible presence of the
- Unusual tallness
- An arm span that exceeds body height
- Unusually long fingers and toes (arachnodactyly)
- Deformity of the breastbone (sternum) and spine
- Excessively flexible joints
- Stretch marks on the skin without any weight change
- Dislocation of the eye lens
- Enlargement of the aorta near the heart (aortic aneurysm)
- Leakage of the aortic valve of the heart
Diagnosing Marfan Syndrome
When several of the signs and symptoms described above
are present, or there is a family history of Marfan
syndrome, a complete physical examination that focuses
on the systems affected by the disorder may be warranted.
Diagnosis is crucial, because an individual with Marfan
syndrome must receive regular, careful evaluation of the
cardiovascular system (especially the aorta), in order
to avoid the potentially fatal complication of a ruptured
- Echocardiogram (a test that uses ultrasound
waves to examine the heart and aorta).
- Slit-lamp eye examination.
- Skeletal examination, including an evaluation
of the skeletal frame for the ration of arm/leg
size to trunk size.
- Complete family history, including information
about any family members who may have the
disorder or who had an early, unexplained
Treating Marfan Syndrome
People affected by the Marfan syndrome should be treated
by a physician familiar with the condition and how it
affects all body systems. Careful medical management
can greatly improve the prognosis and lengthen the life
span. In general, treatment may include the following:
Lifestyle adaptations, such as the avoidance of strenuous
exercise and contact sports, may also be necessary to reduce
the risk of injury to the aorta. Today, the life expectancy
of individuals with Marfan Syndrome who receive proper
treatment is about 70 years.
- Regular echocardiogram (and with some individuals
CAT Scans and MRIs) to monitor the size and
function of the heart and aorta. Certain changes
may require medication (such as beta-blockers,
which may help decrease stress on the aorta) or
surgical intervention to replace a valve or repair
the aorta. Surgery should be performed before the
aorta reaches a size that puts it at high risk for
tear or rupture. Following heart surgery, extreme
care must be followed to prevent endocarditis
(inflammation of the lining of the heart cavity
and valves). Dentists should be alerted to this
risk; they are likely to recommend that the patient
be prescribed protective medicines before they
perform dental work.
- Regular skeletal evaluations to detect any changes
in the spine or sternum that not only be disfiguring
but can also prevent the heart and lungs from
functioning properly. In some cases, an orthopedic
brace or surgery may be recommended to limit damage
- Periodic follow-up with an ophthalmologist following
an initial eye examination with a slit-lamp to detect
- Careful monitoring of the skeletal system, especially
during childhood and adolescence.
- Beta-blocker medications may be prescribed to lower
blood pressure and, consequently, reduce stress on
- Antibiotics may be prescribed prior to dental or
genito-urinary procedures to reduce the risk of
infection in people who experience mitral valve
prolapse or who have artificial heart valves. People
who have had aortic surgery must take blood thinning
medication. They also may need to take antibiotics
by injection before dental work, and in other
situations in which bacteria could enter the blood
- Women who have Marfan syndrome and become pregnant
are at high risk, whether or not they have symptoms
of an enlarged aorta. They face an increased
possibility of aortic splitting during pregnancy.
If someone you love has died because a doctor or other
health care professional failed to diagnose Marfan
syndrome and failed to provide appropriate treatment,
you should immediately contact a competent attorney.
The attorney will work with you to determine
whteher there may a medical malpractice claim resulting
from the failure to diagnose Marfan syndrome or
provide appropriate treatment.
Call or email for a Free Attorney Consultation
Law Office of Joseph A. Hernandez, P.C.
Phone: (781) 461-9400
Toll Free: (866) 461-9400
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