Marfan Syndrome Guide

Transcription

Marfan Syndrome Guide
MARFAN SYNDROME guide
What is Marfan syndrome?
Marfan syndrome (also called Marfan’s syndrome or Marfans syndrome) is a condition that affects the
connective tissue. Connective tissue holds the body together and provides support to many structures throughout
the body. In Marfan syndrome, the connective tissue isn’t normal. As a result, many body systems are affected,
including the heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs.
What causes Marfan syndrome?
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic
fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it
occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who
have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.
In 25 percent of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred
to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same
symptoms to the same degree.
Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
Who is affected by Marfan syndrome?
Marfan syndrome is fairly common, affecting 1 in 10,000 to 20,000 people. It has been found in people of all
races and ethnic backgrounds.
What are the signs of Marfan syndrome?
Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses
with age and symptoms of Marfan syndrome become noticeable as changes occur in connective tissue.

hysical Appearance: People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers
P
and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and
their breastbone (sternum) may either stick out or be indented. Their joints may be weak and easily become
dislocated. Often, people with Marfan syndrome have a long, narrow face and the roof of the mouth may be
higher than normal, causing the teeth to be crowded.
Marfan syndrome causes many changes to occur within the body structures, including dental and skeletal
(bone) problems.

ental and bone problems: Patients with Marfan syndrome may have a dental history of tooth extractions or
D
palate expanders for a narrow palate. In addition, patients may have a history of bone problems such as flat
feet, hernias and bone dislocations.
sydell and arnold Miller family
heart & vascular institute
www.clevelandclinic.org/marfan
For information: 866.289.6911
© 2000-2009 Cleveland Clinic. All rights reserved. Rev. 3/09
Signs of Marfan syndrome (continued)
Other changes that occur with Marfan syndrome due to the
abnormal connective tissue include changes in the eyes, heart and
blood vessels, lungs and skin.
Eye problems
More than half of all people with Marfan syndrome have eye
problems including nearsightedness (blurring of objects far away), lens
subluxation (lens of the eye moves away from its typical position) or
having a difference in the shape of the eye.
dilated
aorta
Changes in the heart and blood vessels
About 90 percent of people with Marfan syndrome develop
changes in their heart and blood vessels.

lood vessel changes: With Marfan syndrome, the walls of the
B
blood vessels become weak and dilate (stretch). These blood vessel
changes often affect the aorta, the major artery that
carries blood from the heart to the rest of the body.
When the walls of the aorta weaken or stretch, there is
an increased risk of aortic aneurysm, aortic dissection
or rupture (bursting). All portions of the aorta can dilate
or dissect. These conditions can result in a medical
emergency and in some cases are life-threatening. (See
next page for more information about these conditions).
Normal mitral valve
Leaflets close tightly
to prevent backflow
of blood when the
ventricle contracts
atients also may have a history of intracranial bleeding
P
or brain aneurysms, referred to as Berry aneurysms.

eart valve problems: The heart’s valves, especially
H
the mitral valve, can be affected by Marfan syndrome.
The valve leaflets become floppy and do not close
tightly, allowing blood to leak backwards across the
valve (mitral valve prolapse, also called MVP). When
MVP progresses, the condition is called mitral valve
regurgitation.
itral valve prolapse and regurgitation are associated
M
with varying degrees of valve leakage. Mild valve leaks
do not create extra work on the heart, but require
routine follow-up. More significant valve leakages, as
determined by your doctor, increase the workload on
the heart and may cause symptoms of shortness of
breath, feeling over-tired, or palpitations (fluttering
in the chest). The abnormal flow may cause a heart
murmur, which can be heard with a stethoscope. Over
time, the heart may enlarge and heart failure may occur.
4
Mitral valve prolapse
 M
itral valve
leaflets are
stretched and do
not close tightly
 T
he leaflets bow
or flop back
into the left
atrium with each
heartbeat
 T
he valve may
leak
© 2000-2009 The Cleveland Clinic Foundation. All rights reserved. Rev. 3/09
Changes in the heart and blood vessels (continued)

ardiomyopathy: With Marfan syndrome, the
C
heart muscle may enlarge and weaken over
time, causing cardiomyopathy. The condition
may progress to heart failure.

Aortic
root dilation: The aortic root is the area
where the aorta meets the aortic valve. With
Marfan syndrome, the aortic root may dilate
or widen. This can cause the aortic valve to
become stretched and leak.

rrhythmia (abnormal heart rhythm): May
A
occur in some patients with Marfan syndrome.
Arrhythmia is often related to MVP.
Other signs of Marfan syndrome

ung changes: The changes in lung tissue that
L
occur with Marfan syndrome increase the risk
of asthma, emphysema, bronchitis, pneumonia
and collapsed lung.

kin changes: Decreased elasticity of the skin
S
cause stretch marks to occur even without
changes in weight.
How is Marfan syndrome diagnosed?
Marfan syndrome is based on a clinical
diagnosis. A multidisciplinary approach is necessary
to make the diagnosis because multiple organ
systems must be assessed. Members of the team will
assess the patient’s family history, eyes, heart and
blood vessels, spine and skeletal system.
A thorough history of symptoms and
information about family members that may have
had related problems are also necessary. Other tests,
such as an echocardiogram (an imaging procedure
that uses high frequency sound waves to produce a
moving picture of the heart’s valves and chambers)
will be used to evaluate changes in the heart and
blood vessels, and to detect heart rhythm problems.
If sections of the aorta can not be visualized
through echocardiogram, or if a dissection is
already suspected, a transesophageal echo (TEE),
magnetic resonance imaging (MRI), or computed
tomography (CT) scan may be needed.
Often a CT or MRI may also be needed to
evaluate for a condition called dural ectasia, a
bulging of the lining of the spinal column. It
often does not cause any symptoms but it can
be associated with back pain in some patients.
Dural ectasia is a feature that helps to support the
diagnosis of Marfan syndrome but it can also occur
with other connective tissue disorders.
In some
situations, a
specific blood
test can be
used to help
diagnose
Marfan
syndrome.
This blood
test is highly
specialized
and is used to
detect changes
in FBN1, the
gene that is
responsible for
most cases of Marfan syndrome.
Genetic counseling should accompany
genetic testing because FBN1 testing is not always
straightforward. Blood tests also can be used to help
in the diagnosis of other genetic mutations, such as
Loeys-Dietz syndrome, that cause physical findings
similar to Marfan syndrome.
Genetic Testing
What is genetic testing?
Genetic testing is a specialized laboratory test
that looks for changes (also called mutations)
in a person’s genetic material (DNA, genes or
chromosomes) or in the products that the genes
make. A gene contains instructions for our bodies.
Genes are made up of chemical bases represented
by the letters A, T, C and G. Every gene contains
thousands of letters. Most times genetic testing is
done by taking a blood sample, but sometimes other
body samples (like cheek cells or skin) are needed.
FBN1 testing is expensive (approximately $2,000).
5
Genetic testing (continued)
It is often covered by insurance, but this varies
depending on individual insurance policies. We
recommend that you check with your insurance
company about coverage prior to having testing.
FBN1 is a large gene and mutations can be
found throughout the gene. Over 1,000 different
mutations have been identified in FBN1; most
mutations are unique to an individual family. Once a
mutation is found in one family member, we expect
that same mutation to be present in affected family
members. In some cases, a change in the genetic
code is found that the lab is not able to determine
if it actually causes Marfan syndrome. These types
of mutations are called variants. When variants are
identified, sometimes it is necessary to test other
family members (often parents) to try to determine
its significance. The lab may also identify changes
in the gene called polymorphisms. Polymorphisms
are gene changes that are relatively common and are
not likely to cause Marfan syndrome. 
Someone
in whom a diagnosis is suspected
but clinical evaluation did not establish the
diagnosis.

Someone
in whom Marfan syndrome is one of
several diagnoses that are being considered.

Family
members of someone with an identified
mutation.
Who should have genetic testing?
How is Marfan syndrome treated?
There are numerous reasons that someone should
consider genetic testing for Marfan syndrome. People
who should consider genetic testing include:
Marfan syndrome requires a treatment plan
that is individualized to the patient’s needs. Some
people may not require any treatment, just regular
follow-up appointments with their doctor. Others
may need medications or surgery. The approach
depends on the structures affected and the severity
of the condition.


6
Someone
with a clinical diagnosis who is
interested in genetic testing so that other family
members can get tested. Genetic testing should
be initiated in someone with Marfan syndrome
first and once a mutation is identified other
family members can have testing for that
mutation at a reduced cost.
Someone
with a clinical diagnosis who would
like to confirm the diagnosis. (It should be
noted that not all cases of Marfan syndrome
can be confirmed through genetic testing.
Therefore, when a person with a diagnosis of
Marfan syndrome does not have a mutation
in FBN1 it does not mean that he/she does not
have Marfan syndrome. It just means that it
was not possible to find the genetic reason with
current technology.
Lifestyle considerations

Follow-up:
Routine follow-up including cardiovascular, eye, and skeletal exams, especially
during the growing years. Your doctors will
discuss the frequency of follow-up with you.

Activity:
Activity guidelines vary, depending on
the extent of the disease and symptoms. Most
people with Marfan syndrome can participate
in some type of physical and/or recreational
activities. Those with dilation of the aorta will
be asked to avoid high-intensity team sports,
contact sports, and isometric exercises (such
as weight lifting). Ask your cardiologist about
activity guidelines for you.
Lifestyle considerations (continued)


Pregnancy:
Genetic counseling should be
performed prior to pregnancy as Marfan
syndrome is an inherited condition. Pregnant
women with Marfan syndrome are considered
high risk cases. If the aorta is normal size, the
risk for dissection is lower, but not absent.
Those with even slight enlargement are at
higher risk and the stress of pregnancy may
cause more rapid dilation. Careful followup, with frequent blood pressure checks and
monthly echocardiograms is required during
pregnancy. If there is rapid enlargement or
aortic regurgitation, bed rest or surgery may be
required. Your doctor will discuss with you the
best method of delivery with you.
Endocarditis
prevention: People with Marfan
syndrome who have also had valve surgery have
an increased risk for bacterial endocarditis.
This is an infection of the heart valves or tissue
which occurs when bacteria enters the blood
stream. To reduce the risk of endocarditis,
antibiotics should be given prior to dental or
surgical procedures in
patients with Marfan
syndrome who have had
valve surgery. Check with
your doctor about the type
and amount of antibiotics
you should take. A wallet
card may be obtained
from the American Heart
Association with specific
antibiotic guidelines.
Medications
Medications are not used to treat Marfan
syndrome, however they may be used to
prevent or control complications. Medications
may include:

beta-blocker improves the heart’s ability
A
to relax, decreases the forcefulness of the
heartbeat and the pressure within the arteries,
thereby preventing or slowing the enlargement
of the aorta. Beta-blocker therapy should begin
at an early age.
In people who are
unable to take
beta-blockers due
to asthma or sideeffects, a calcium
channel blocker,
such as verapamil,
is recommended.

angiotensin
An
receptor blocker
(ARB) is a type
of medication
that acts on a
chemical pathway
in the body. These
agents are often used in treatment of high
blood pressure as well as heart failure. Clinical trials are currently being conducted to
evaluate how these medications may prevent
aortic enlargement.
Surgery
Surgery for Marfan syndrome is aimed at
preventing aortic dissection or rupture and treating
valve problems. When the aorta diameter is more
than 4.7 cm (centimeters) to 5.0 cm (depending on
your height), or if the aorta is enlarging at a rapid
pace, surgery is recommended. Your cardiologist
may also calculate your aortic root diameter to height
ratio, since this may also influence whether you
should have surgery.
The recommendation for surgery is based on
size of the aorta, expected normal size of the aorta,
rate of aortic growth, age, height, gender and family
history of aortic dissection. Surgery involves a
replacement of the dilated portion of the aorta with
a graft.
Valve repair or replacement surgery may be
needed when Marfan syndrome causes a leaky aortic
or mitral valve (regurgitation) that leads to changes
in the left ventricle (left lower chamber of the heart)
or heart failure.
7
Surgical Treatment for Marfan Syndrome
Surgery for Marfan syndrome is aimed at preventing aortic dissection or rupture (see next page for more
information about these conditions) and treating valve problems. It is recommended that people with Marfan
syndrome undergo surgery by surgeons who are experienced in this type of surgery. A better understanding of
Marfan syndrome combined with earlier detection, careful follow-up and safer surgical techniques have resulted
in better outcomes for patients.
At the Cleveland Clinic, patients who had surgery for Marfan syndrome or related connective tissue disorders
had a 99 percent survival rate and excellent normal expected late survival of 82 percent at 10 years.
Aorta Surgery for Marfan Syndrome
Surgery involves a replacement of the
dilated portion of the aorta with a graft. The
two surgical techniques include:

raditional method: Replace the aorta
T
with a graft and the aortic valve with a
mechanical valve.

alve-sparing method: Replace the
V
aorta with a tube graft and re-implant
the native aortic valve. The valvesparing method is the recommended
surgery and is the standard of care.
Your surgeon should be experienced in
performing this complex procedure.
Aortic aneurysm
Repair of aortic aneurysm with graft
Traditional aorta surgery method
During surgery, the heart surgeon
removes the area of dissection or aneurysm.
Due to the connective tissue disorder, the
aorta is prone to tearing, so the heart surgeon
must use great care.
A mechanical valve, attached to the end
of the aortic graft, is sewn to the annulus
(opening) of the aortic valve.
The coronary arteries are reattached to the
aortic graft through small button holes
cut into the graft. Then, the other end of
the Dacron graft is sewn to the tissue of
the aorta.
Mechanical Heart Valves
Mechanical heart
valves are made
of metal or carbon
and are designed to
perform the functions
of the patient’s
native heart valve. A
mechanical valve is
Open
very durable,
well-tolerated by the
body and is designed to last a lifetime.
Closed
The bi-leaflet valve is the most common type of mechanical
valve and consists of two carbon leaflets in a ring covered with
polyester knit fabric.
Most patients who receive a mechanical valve replacement need
to take anticoagulant medications for the rest of their lives.
8
Aortic Dissection
Aortic Aneurysm
The aorta has many
layers. Aortic dissection
is a tear that develops
in the inner layer of the
aorta, causing blood
to flow between the
layers. The layers then
separate, interrupting
the blood flow and
possibly causing the
arterial wall to burst.
An aortic aneurysm
is an abnormal
enlargement or
bulging of the wall
of the aorta. An
aneurysm can occur
anywhere in the
vascular tree.
Once an aneurysm is
diagnosed, treatment
may be needed,
depending on the
size of the aneurysm.
Ruptured aneurysms
require emergency
surgery to stop the
bleeding.
normal aorta
aneurysm
In patients with Marfan
syndrome, aortic
dissection is a lifethreatening emergency
that requires immediate
treatment.
Surgical treatment involves repairing or replacing
the damaged segment of the aorta.
The goal is to perform surgery BEFORE dissection
occurs, to reduce the risk of death and to improve
the long-term life expectancy.
The majority of patients who have surgery prior to
dissection do not need future surgeries. However,
surgery after aortic dissection increases the need
for future surgeries to repair other sections of
the aorta.
Symptoms of Aortic Dissection
Symptoms of Aortic Aneurysm


ymptoms of a thoracic aortic aneurysm
S
(affecting upper part of aorta in chest):
Pain in the jaw, neck, upper back or chest;
coughing, hoarseness or difficulty breathing
ymptoms of an abdominal aortic aneurysm
S
(affecting lower part of aorta in abdomen):
Pulsating enlargement or tender mass felt
by a physician when performing a physical
examination; pain in the back, abdomen, or
groin not relieved with position change or
pain medication
Early diagnosis of an aneurysm is
critical to managing the condition and
reducing the risk of rupture.
If you have these symptoms,
call your doctor right away.

ost common symptom: Severe pain in the
M
chest (front, back or both)

Less common symptoms: Pain in the
abdomen, numbness or weakness in one
or both legs, loss of consciousness, or
symptoms of a stroke (sudden weakness,
numbness, dizziness or loss of balance;
sudden vision changes; sudden confusion,
difficulty speaking)
If you have these symptoms, call for
emergency help (dial 911 in most areas).
9
Valve sparing re-implantation aorta surgery
There are two methods for replacing
the aorta without replacing the aortic valve,
including:


Valve sparing re-implantation method
Valve remodeling method
Aortic arch repair surgery with repair and
reimplantation of the native aortic valve
The surgery involves
freeing and repairing
the aortic valve and
replacing the damaged
section of the aorta with
a synthetic tube graft.
graft
Both surgical techniques are used for
young people whose aortas are not too
enlarged and in whom the aortic valve has
not been damaged. After aortic graft surgery,
patients usually remain in the hospital 5 to
10 days. After a recovery period of six to eight
weeks, return to regular activities is expected.
Sutures are placed
through the graft and
just below the aortic
valve, around the left
ventricular outflow tract.
The valve sparing re-implantation method
(illustrated to the right) is the preferred
method for people with Marfan syndrome.
Valve Repair or Replacement Surgery
for Marfan Syndrome
Valve repair or replacement surgery may
be needed when Marfan syndrome causes
a leaky aortic or mitral valve (regurgitation)
that leads to changes in the left ventricle (left
lower chamber of the heart) or heart failure.
Over the past several years, there have
been great advances in the surgical treatment
of diseased heart valves, including the
modified David’s reimplantation procedure.
In this procedure, the appropriately sized
aorta graft is determined, the left ventricular
outflow tract (the passageway out of the
left ventricle) is maintained, and surgical
outcomes are improved when using the valvesparing method. For more information about
this technique, please see our website at
www.clevelandclinic.org/marfan.
At Cleveland Clinic, valve surgery may
be combined with other heart surgeries,
such as more than one valve procedure,
bypass surgery, aortic aneurysm surgery or
surgery to treat atrial fibrillation (an irregular
heart beat that is common in patients with
valve disease). Your surgeon can provide
more information about valve surgery if this
treatment option is recommended.
10
dilator
A custom-sized dilator device
is placed in the left ventricular
outflow tract, through the
aortic valve. Sutures are tied
around the dilator to shape
the bottom portion of the
aorta graft, similar to the
natural aortic root.
The repaired aortic valve is
reimplanted and the aortic
graft is sewn to the annulus of
the repaired valve. The valve
is tested to make sure it opens
and closes properly.
Small holes are made in
the graft for the coronary
ostia (openings), where the
coronary arteries are
re-attached.
The graft is sewn to the aorta.
If the aortic arch needs to be
replaced, a separate graft is
sewn from the aortic arch to
the aortic root graft.
Follow-Up Care
A better understanding of Marfan syndrome combined with earlier detection, careful follow-up and safer
surgical techniques have resulted in better outcomes for patients.
Even if you have surgery to treat your condition, it is important to follow up with your doctor regularly,
take your medications as prescribed, and make preventive lifestyle changes to reduce the risk of future disease
progression. Your health care team can help you achieve your goals.
References
Svensson LG, Blackstone EH, Feng J, de Oliveira D, Gillinov
AM, Thamilarasan M, Grimm RA, Griffin B, Hammer D,
Williams T, Gladish DH, Lytle BW. Are Marfan syndrome
and marfanoid patients distinguishable on long-term followup? Ann Thorac Surg. 2007 Mar;83(3):1067-74.
PMID: 17307461.
hudia SK, Troughton R, Lam BK, Rajeswaran J, Mills WR,
B
Gillinov AM, Griffin BP, Blackstone EH, Lytle BW, Svensson
LG. Mitral valve surgery in the adult Marfan syndrome patient.
Ann Thorac Surg. 2006 Mar;81(3):843-8. PMID: 16488682.
eur M, Costin B, Crowe S, Grimm RA, Moran R,
H
Svensson LG, Traboulsi EI.The value of keratometry and
central corneal thickness measurements in the clinical
diagnosis of Marfan syndrome. Am J Ophthalmol. 2008
Jun;145(6):997-1001. Epub 2008 Apr 18.
Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz
D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L,
Wessels A, Van Eyk J, Dietz HC; National Heart, Lung, and
Blood Institute and National Marfan Foundation Working
Group. Report of the National Heart, Lung, and Blood
Institute and National Marfan Foundation Working Group
on research in Marfan syndrome and related disorders.
Circulation. 2008 Aug 12; 118(7):785-91.
PMID: 18695204.
vensson LG. Aortic valve stenosis and regurgitation: an
S
overview of management. J Cardiovasc Surg (Torino). 2008
Apr;49(2):297-303. PMID: 18431353.
vensson LG, Kouchoukos NT, Miller DC, Bavaria JE,
S
Coselli JS, Curi MA, Eggebrecht H, Elefteriades JA, Erbel
R, Gleason TG, Lytle BW, Mitchell RS, Nienaber CA,
Roselli EE, Safi HJ, Shemin RJ, Sicard GA, Sundt TM 3rd,
Szeto WY, Wheatley GH 3rd; Society of Thoracic Surgeons
Endovascular Surgery Task Force. Expert consensus
document on the treatment of descending thoracic aortic
disease using endovascular stent-grafts. Ann Thorac Surg.
2008 Jan;85(1 Suppl):S1-41. PMID: 18083364.
Svensson LG, Deglurkar I, Ung J, Pettersson G, Gillinov
AM, D'Agostino RS, Lytle BW. Aortic valve repair and root
preservation by remodeling, reimplantation, and tailoring:
technical aspects and early outcome. J Card Surg. 2007
Nov-Dec;22(6):473-9. PMID: 18039206.
Svensson LG. The elephant trunk procedure: uses
in complex aortic diseases. Curr Opin Cardiol. 2005
Nov;20(6):491-5. Review. PMID: 16234619.
Svensson LG, Kim KH, Blackstone EH, Alster JM, McCarthy
PM, Greenberg RK, Sabik JF, D'Agostino RS, Lytle BW,
Cosgrove DM. Elephant trunk procedure: newer indications
and uses. Ann Thorac Surg. 2004 Jul;78(1):109-16;
discussion 109-16. Review. PMID: 15223413.
vensson LG. Sizing for modified David’s reimplantation
S
procedure. Ann Thorac Surg. 2003 Nov;76(5):1751-3.
PMID: 14602338.
vensson LG, Kim KH, Lytle BW, Cosgrove DM. Relationship
S
of aortic cross-sectional area to height ratio and the risk of
aortic dissection in patients with bicuspid aortic valves. J
Thorac Cardiovasc Surg. 2003 Sep;126(3):892-3.
PMID: 14502185.
vensson LG. Progress in ascending and aortic arch
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surgery: minimally invasive surgery, blood conservation,
and neurological deficit prevention. Ann Thorac Surg. 2002
Nov;74(5):S1786-8; Discussion S1792-9.
PMID: 12440666.
vensson LG, Khitin L. Aortic cross-sectional area/height
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ratio timing of aortic surgery in asymptomatic patients
with Marfan syndrome. J Thorac Cardiovasc Surg. 2002
Feb;123(2):360-1. PMID: 11828302.
vensson LG, Longoria J, Kimmel WA, Nadolny E.
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Management of aortic valve disease during aortic surgery.
Ann Thorac Surg. 2000 Mar;69(3): 778-83; Discussion
783-4. PMID: 10750761.
Svensson LG, Labib SB, Eisenhauer AC, Butterly JR.
Intimal tear without hematoma: an important variant of
aortic dissection that can elude current imaging techniques.
Circulation. 1999 Mar 16;99(10):1331-6.
PMID: 10077517.
11
Support is Available
We understand that learning you have a genetic disorder, such as Marfan syndrome, is concerning. You may be worried
about making lifestyle changes, financial concerns, having surgery, needing to have medical follow-up care the rest of
your life. Or there may be financial concerns. It may be also concerning to think about risk to future children.
It is important to seek medical care from a physician who has experience in treating Marfan syndrome. Get accurate
information. It may also help to seek genetic counseling to help understand the disease and your risk for passing it
on to your children.
In addition to the Marfan syndrome resources at Cleveland Clinic (listed below), these national organizations can
help provide you with information and support:
National Marfan Foundation
www.marfan.org
800.862.7326
National Institute of Arthritis and
Musculoskeletal and Skin Disease
www.niams.nih.gov
877.226.4267
American Heart Association
www.americanheart.org
800.242.8721
Marfan Syndrome and Connective Tissue Disorder Clinic
The multi-disciplinary team of experts in the Marfan Syndrome and Connective Tissue Disorder Clinic includes
cardiologists, pediatric cardiologists, cardiovascular and vascular surgeons, ophthalmologists, orthopedic surgeons
and genetic specialists.
The mission of the Marfan Syndrome and Connective Tissue Disorder Clinic is to bring together a knowledgeable and
experienced multi-disciplinary team of cardiology and vascular doctors and other cardiology experts to provide:




A thorough evaluation of patients using state-of-the art diagnostic testing
On-going comprehensive care for those patients with disease of the aorta, connective tissue disorder, and
Marfan syndrome
Genetic screening for families of those with genetic disorders, such as Marfan syndrome
Ongoing research and education to provide patients with high quality and innovative therapies
The goal is to help patients live longer and improve their quality of life.
For More Information
For more information about Marfan syndrome and treatments, please visit our website at
www.clevelandclinic.org/marfan or e-mail us using the Contact Us form on the web at
www.clevelandclinic.org/heart.
To talk with a nurse about Marfan syndrome and available treatment options, please contact the Heart and
Vascular Resource Center Nurse toll-free at 866.289.6911.
To make an appointment, please call 800.659.7822.
About the Sydell and Arnold Miller Family Heart & Vascular Institute
The Sydell and Arnold Miller Family Heart & Vascular Institute at Cleveland Clinic is one of the largest
cardiovascular specialty groups in the world, providing patients with expert medical management and a full range of
therapies. Our cardiac care program has been ranked number one since 1995 by U.S. News & World Report.
Our areas of expertise combine research, education and clinical practice to provide innovative and scientificallybased treatments for cardiovascular disease. The commitment of our physicians and scientists to the prevention
and cure of cardiovascular disease has led to innovative care, better outcomes and improved quality of life for
patients with cardiovascular disease.
This information is not intended to replace the medical advice of your doctor or health care provider.
Please consult your health care provider for advice about a specific medical condition.
12

Marfan Syndrome Guide

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