From WikiHealth

Marfan syndrome

Who gets it

Marfan syndrome affects males and females equally, and can affect those of any race. The role of heredity and family history and the mutation shows no geographical bias. Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to to dominant nature of the chromosome it is carried on. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to genetic mutation.

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Symptoms

Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, dislocated lenses, and aortic root dilation is sufficient to make the diagnosis with confidence. There are more than thirty other clinical features that are variably associated with the syndrome most involving the skeleton, skin, and joints. There is a great deal of clinical variability even within families that carry the identical mutation.

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Skeletal system

The most readily visible signs are associated with the skeletal system. Many individuals with Marfan Syndrome grow to above average height. Some have long slender limbs with fingers and toes that are also abnormally long and slender. An individual's arms may be disproportionately long, with thin, weak wrists. In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal signs such as(scoliosis), abnormal indentation or protrusion of the sternum. Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, stooped shoulders, unexplained stretch marks on the skin and thin wrists. Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws.

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Eyes

Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result. Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina. 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. Early onset of glaucoma can be another complication.

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Cardiovascular system

The most serious conditions associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or pain in the left chest, back, shoulder, or arm, can bring a person into the doctor's office. Cold arms, hands and feet are alsolinked to marfan syndrome because of loss of blood circulation. Because of faulty connective tissue, the wall of the aorta can stretch and weaken. This process is called aortic dilatation and it can ultimately lead to an aortic tear or rupture. This can be very serious as it can cause serious heart problems or even death. Some may suffer from defects in heart valves which can result in less serious "heart murmurs" (as with smaller leaks), or more serious symptoms (as with larger leaks) such as shortness of breath, fatigue, and heart palpitations. A heart murmur heard on a stethoscope, an abnormal reading on an electrocardiogram, or symptoms of angina can lead a doctor to order an echocardiogram (EKG).

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Marfan syndrome during pregnancy

During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of acute aortic dissection, which can be lethal if untreated. For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and echocardiography should be performed every 6-10 weeks during pregnancy, to assess the aortic root diameter. Most women however tolerate pregnancy well and safe vaginal delivery is possible.

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Lungs

Marfan syndrome is a risk factor for spontaneous pneumothorax. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the pleural space between the chest wall and a lung. The lung becomes partially compressed or collapsed. This can cause pain, shortness of breath, cyanosis, and, if not treated, death. Marfan syndrome has also been associated with sleep apnea and obstructive lung disease.

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Nervous system

Another condition that can reduce the quality of life for an individual, though not life-threatening, is the weakening of the connective tissue of the dural sac, the membrane that encases the spinal cord. Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches. Such symptoms usually diminish when the individual lies flat on his or her back. These types of symptoms might lead a doctor to order an X-ray of the lumbar spine. Dural ectasia is usually not visible on an X-ray in the early phases. A worsening of symptoms and the lack of finding any other cause should eventually lead a doctor to order an upright MRI of the lower spine. Dural ectasia that has progressed to the point of causing these symptoms would appear in an upright MRI image as a dilated pouch that is wearing away at the lumbar vertebrae. Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts.

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Treatment

Because of the pervasive nature of the condition, someone with Marfan syndrome may need to work with a number of medical specialists, from an opthamologist to a cardiologist to an orthopedist, to help treat the symptoms.

There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades, and clinical trials are underway for a promising new treatment. The syndrome is treated by addressing each issue as it arises, and, in particular, considering preventive medication, even for young children, to slow progression of aortic dilation.

Regular checkups by a cardiologist are needed to monitor the health of the heart valves and the aorta. The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating cardiac arrhythmia, controlling the heart rate, and lowering blood pressure. Beta blockers have been used to control cardiac arrhythmia and slow the heart rate. Other medications might be needed to further minimize blood pressure without slowing the heart rate, such as ACE inhibitors and angiotensin II receptor antagonists, also known as angiontensin receptor blockers (ARBs). If the dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery (possibly a composite aortic valve graft [CAVG] or valve-sparing procedure) becomes necessary. Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.

The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. The Nuss procedure is now being offered to people with Marfan syndrome to correct 'sunken chest' called pectus excavatum. Because Marfan may cause spinal abnormalities that are asymptomatic, any spinal surgery contemplated on a Marfan patient should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery.

Clinical trials have been conducted of the drug acetazolamide in the treatment of symptoms of dural ectasia, the back condition associated with the syndrome. The treatment has demonstrated significant functional improvements in some sufferers. Other medical treatments, as well as physical therapy, are also available.

Treatment of a spontaneous pneumothorax is dependent on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in 1 to 2 weeks. Recurrent pneumothoraces might require chest surgery. Moderately sized pneumothoraces might need chest drain management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.

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Diet and Lifestyle

There are no known vitamins or natural treatments that are proven to help, prevent or cure Marfan syndrome. However, as with any chronic health problem, maintaining a balanced diet and healthy lifestyle is essential.

It important that people with Marfan syndrome not smoke, as they are already at increased risk for lung damage.

There may be emotional and psychological affects of learning about the diagnosis of the disease. As being diagnosed with any chronic and potentially serious and dibilitating disease, feels of sadness, anger and fear may arise. Tapping into a strong support system and group can greatly help in dealing with these emotions.

Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members. This is especially recommended for those who are planning to have children.

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Future Outlook

More and more research is being done on Marfan syndrome. The earlier someone is diagnosed, the greater the chance they will live a fairly normal life with a normal life span.

Scientists currently approaching research on Marfan syndrome from a variety of perspectives as an attempt to find optimal treatment for the condition. Newly developed mouse models that carry mutations in the fibrillin gene may help scientists better understand the disorder.

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