Because a number of body systems may be affected, a person with Marfan syndrome should be cared for by several different types of doctors. A general practitioner or pediatrician may oversee routine health care and refer the patient to specialists such as a cardiologist (a doctor who specializes in heart disorders), an orthopaedist (a doctor who specializes in bones), or an ophthalmologist (a doctor who specializes in eye disorders), as needed. Some people with Marfan syndrome also go to a geneticist.
What treatment options are
available for Marfan syndrome?
There is no cure for Marfan syndrome. To develop one, scientists may have to
identify and change the specific gene responsible for the disorder before birth.
However, a range of treatment options can minimize and sometimes prevent
complications. The appropriate specialists will develop an individualized
treatment program; the approach the doctors use depends on which systems have
been affected.
Skeletal - Annual evaluations are important to detect any changes in the
spine or sternum. This is particularly important in times of rapid growth,
such as adolescence. A serious malformation not only can be disfiguring, but
also can prevent the heart and lungs from functioning properly. In some
cases, an orthopaedic brace or surgery may be recommended to limit damage
and disfigurement.
Eyes - Early, regular eye examinations are essential for identifying and
correcting any vision problems associated with Marfan syndrome. In most
cases, eyeglasses or contact lenses can correct the problem, although
surgery may be necessary in some cases.
Heart and blood vessels - Regular checkups and echocardiograms help the
doctor evaluate the size of the aorta and the way the heart is working. The
earlier a potential problem is identified and treated, the lower the risk of
life-threatening complications. Those with heart problems are encouraged to
wear a medical alert bracelet and to go to the emergency room if they
experience chest, back, or abdominal pain. Some heart-valve problems can be
managed with drugs such as beta-blockers, which may help decrease stress on
the aorta. In other cases, surgery to replace a valve or repair the aorta
may be necessary.
Surgery should be performed before the aorta reaches a size that puts it at
high risk for tear or rupture. Because blood clots can form around artificial
heart valves, people who have a valve replaced must take the blood-thinning drug
warfarin (Coumadin) for the rest of their lives. They must also take extreme
care 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.
Because warfarin carries a risk of some serious side effects, including
excessive bleeding, and because it is dangerous to unborn babies, doctors are
increasingly opting for a newer aortic root replacement procedure that enables
people to keep their own valves. The procedure involves removing and replacing
the enlarged part of the aorta with a Dacron tube, and resuspending the natural
valve into the tube so that the tube supports the valve. The procedure is often
performed at an earlier stage than traditional valve replacement. It may also be
offered to women with aortic enlargement who are considering becoming pregnant,
because it can prevent the rapid aortic growth and possible tearing that
sometimes occur during pregnancy.
Nervous system - If dural ectasia (swelling of the covering of the
spinal cord) develops, medication may help minimize any associated pain.
Lungs - It is especially important that people with Marfan syndrome
not
smoke, as they are already at increased risk for lung damage. Any problems
with breathing during sleep should be assessed by a doctor.
Pregnancy poses a particular concern due to the stress on the body,
particularly the heart. A pregnancy should be undertaken only under conditions
specified by obstetricians and other specialists familiar with Marfan syndrome.
The pregnancy should be monitored as a high-risk condition. Women with an aortic
measurement of 4 centimeters or greater may want to discuss the possibility of a
valve-sparing aortic root replacement with their doctors before becoming
pregnant. Women with Marfan syndrome may also seek genetic counseling concerning
the likelihood that they will pass the disease on to their children.
While eating a balanced diet is important for maintaining a healthy
lifestyle, no vitamin or dietary supplement has been shown to help slow, cure,
or prevent Marfan syndrome.
For most people with Marfan syndrome, engaging in moderate aerobic exercise
is important for promoting skeletal and cardiovascular health and a sense of
well-being. However, because of the risk of aortic dissection, people with the
syndrome should not engage in contact sports, competitive athletics, or
isometric exercise.
Brand names included in this information are provided as examples only, and
their inclusion does not mean that these products are endorsed by the National
Institutes of Health or any other Government agency. Also, if a particular brand
name is not mentioned, this does not mean or imply that the product is
unsatisfactory.
A hernia is an opening or weakness in the muscular structure of the wall of the abdomen. This defect causes a bulging of the abdominal wall. Symptoms of a hernia include pain or discomfort and a localized swelling somewhere on the surface of the abdomen or in the groin area.
Palpitations are unpleasant sensations of irregular and/or forceful beating of the heart. Palpitations can be relieved in many patients by stress reduction, stopping cigarettes, and reduction of caffeine and alcohol.
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. The most common cause of aortic aneurysms is
"hardening of the arteries" called arteriosclerosis.
Retinal detachment is the separation of the retina from its attachments to the underlying eye tissue. Symptoms of retinal detachment include flashing lights and floaters. Highly nearsighted young adults and those who've had cataract surgery are at higher risk for retinal detachment.
Sleep apnea is defined as a reduction or cessation of breathing during sleep. The three types of sleep apnea are central apnea, obstructive apnea (OSA), and a mixture of central and obstructive apnea. Central sleep apnea is caused by a failure of the brain to activate the muscles of breathing during sleep. OSA is caused by the collapse of the airway during sleep. OSA is diagnosed and evaluated through patient history, physical examination and polysomnography. There are many complications related to obstructive sleep apnea. Treatments are surgical and non-surgical.
Chest pain is a common complaint by a patient in the ER. Causes of chest pain include broken or bruised ribs, pleurisy, pneumothorax, shingles, pneumonia, pulmonary embolism, angina, heart attack, costochondritis, pericarditis, aorta or aortic dissection, and reflux esophagitis. Diagnosis and treatment of chest pain depends upon the cause and clinical presentation of the patient's chest pain.
Scoliosis causes an abnormal curvature of the spine. When the cause of scoliosis is unknown the disorder is described based on the age when the scoliosis develops (infantile, juvenile, or adolescent idiopathic scoliosis). In functional scoliosis, curvature develops due to a problem somewhere else in the body. With neuromuscular scoliosis, there is a problem when the bones of the spine are formed. Treatment typically involves observation, bracing, and surgery and is dependent upon the severity of the curvature.
Emphysema is a progressive disease of the lungs. The primary cause of emphysema is smoking. Alpha 1-antitrypsin deficiency is a rare disorder that has a genetic predisposition to emphysema. Aging, IV drug use, immune deficiencies, and connect tissue illnesses are also risk factors for emphysema. Emphysema is a subtype of COPD (chronic obstructive pulmonary disease, COLD). Symptoms include shortness of breath and wheezing. Management of symptoms may be achieved with medications, quitting smoking, pulmonary rehabilitation, or surgery.
Snoring, like all other sounds, is caused by vibrations that cause particles in the air to form sound waves. While we are asleep, turbulent air flow can cause the tissues of the nose and throat to vibrate and give rise to snoring. Any person can snore. Snoring is believed to occur in anywhere from 30% of women to over 45% of men. People who snore can have any body type. In general, as people get older and as they gain weight, snoring will worsen. Snoring can be caused by a number of things, including the sleep position, alcohol, medication, anatomical structure of the mouth and throat, stage of sleep, and mouth breathing.
A heart murmur is the sound generated when blood flow within the heart is not smooth. Causes of heart murmurs can be functional, congenital, or caused heart valve conditions. Symptoms of a heart murmur may be none, or may include chest pain, shortness of breath, and arm, leg, and ankle swelling. Treatment of a heart murmur depends on the cause.
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
Sudden cardiac arrest is an unexpected, sudden death caused by sudden cardiac arrest (loss of heart function). Causes and risk factors of sudden cardiac arrest include (not inclusive): abnormal heart rhythms (arrhythmias), previous heart attack, coronary artery disease, smoking, high cholesterol, Wolff-Parkinson-White Syndrome, ventricular tachycardia or ventricular fibrillation after a heart attack, congenital heart defects, history of fainting, and heart failure, obesity, diabetes, and drug abuse. Treatment of sudden cardiac arrest is an emergency, and action must be taken immediately.
Aortic dissection is a small tear in the large blood vessel that leads from the heart and supplies blood to the body. There are two types of aortic dissection, type 1 and type 2. Signs and symptoms of aortic dissection include a tearing or ripping pain, nausea, sweating, weakness, shortness of breath, sweating, or fainting. Treatment depends on the type of aortic dissection, and the severity of the tear in the aorta.
Stretch marks occur in the dermis, the elastic middle layer of skin that allows it to retain its shape. When the skin is constantly stretched, the dermis can break down, leaving behind stretch marks.
Loeys-Dietz syndrome is a syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz syndrome are at a greater risk of dying from the aortic aneurysms, because the aneurysms are prone to rupture at a smaller size than other aneurysms. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair fo the aneurysms.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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