What is Marfan Syndrome?

Answer 1

A syndrome is a grouping of symptoms, Marfan is the name of the first doctor who recognized people having the similar connective tissue symptoms over a century ago.

It is a genetic syndrome which means it is in the genes you interit although 1/4 of the cases are the first in their families based on the mix of DNA from both parents and each child the person would have then has a 50% probability of having Marfan.

There are three major body systems typically involved and for a clinical diagnosis two of them have to have enough traits to qualify. The three are circulatory (heart & arteries/veins), skeletal and opthomological (eyes). However it can and often does affect any or all parts of the body. Overall there is more growth than usual and less elasticity, making the circulatory system the only one that is potentially life-threatening but others can cause major changes in life.

Skeletal features typically include taller stature, longer extremeties, pectus bone going in or out, flat feet or high arch and scoliosis. Dural ectasia is becoming a major factor also which is actually spinal.

Eye problems most seen are usually near sighted, possibly flat corneas, dislocating lens, earlier than normal cataracts and possible retina problems. Some people are legally blind.

Cardiac/circulatory system, many have mitral valve prolapse (murmur), and most significant is an enlarging aortic root or aneurysms (bulges) in the aorta, either of which can require surgery and if left too long can be fatal. Technical advances have increased life span greatly the last couple decades.

Anyone who suspects Marfan should see a Marfan familiar doctors at least once and regularly see a cardiologist and have at least yearly echos and occassional CT's or MRA's, as EKG and Xrays will not show potential problems.

Much information is available on marfan.org

Answer 2

Marfan Syndrome

What is the Marfan syndrome?

The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.

What are the blood vessel problems?

In the Marfan syndrome, the walls of the major arteries are weakened. The aorta, the major artery that leaves the heart, often is affected. When this occurs, it gets bigger (dilates), which can weaken the inner aortic wall. Under strenuous exertion, the aorta wall can tear. Blood can leak through these tears into the aortic wall, separating its layers — a process called aortic dissection. Another problem that may occur if the aortic wall weakens is that an aneurysm (AN'u-rizm) may form.

What are the cardiac valve problems?

The Marfan syndrome can involve any of the four heart valves. The two most important ones, however, are the mitral and aortic valves. Blood may leak backward through a valve, increasing the heart's workload. As a result, over time the heart may enlarge. Mitral valve prolapse (MVP) is a common but usually less significant valve problem. People without the Marfan syndrome can have mitral valve prolapse, but those with the Marfan syndrome often have an oversized mitral valve. As it closes, the valve billows (prolapses) back into the left atrium. This causes abnormal heart sounds, which a doctor can hear with a stethoscope.

How do you treat the Marfan syndrome?

Once the Marfan syndrome has been diagnosed, regular visits with a cardiologist are needed. Chest X-rays and Doppler echo tests are usually performed. Other tests also may be necessary.

Different people may need different types of treatment. Some people may not need treatment, but others may need drugs that lower heart rate, blood pressure or both. When the aorta or aortic valve develop major problems, surgery is usually advised.

People with the Marfan syndrome who have an abnormal heart or who've had heart surgery for their Marfan syndrome risk developing an infection of the heart wall or heart valve (endocarditis). This happens when bacteria enter the bloodstream. The American Heart Association no longer recommends taking routine antibiotics before certain dental procedures except for people at highest risk for bad outcomes if they develop endocarditis. This includes people with a prosthetic heart valve, people who have previously had endocarditis, people with certain types of congenital heart disease, and people with a heart transplant who develop a problem with a heart valve. The AHA no longer recommends routine antibiotics solely to prevent endocarditis in patients undergoing gastrointestinal or genitourinary procedures .

Answer 3

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient's eyes, cardiovascular system, and musculoskeletal system. Marfan syndrome is one of the more common inheritable disorders.

Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. The genetic mutation responsible for Treatment
Marfan was discovered in 1991. It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component of the microfibrils that allow tissues to stretch repeatedly without weakening. Because the patient's fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body.

The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The patient's face may also be long and narrow, and he or she may have a noticeable curvature of the spine. It is important to note, however, that Marfan patients vary widely in the external signs of their disorder and in their severity; even two patients from the same family may look quite different. Most of the external features of Marfan syndrome become more pronounced as the patient gets older, so that diagnosis of the disorder is often easier in adults than in children. In many cases, the patient may have few or very minor outward signs of the disorder, and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.

Causes and symptoms
Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent. Between 15 and 25% of cases result from spontaneous mutations. Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology. The syndrome is an autosomal dominant disorder, which means that someone who has it has a 50% chance of passing it on to any offspring.

Treatment

The treatment and management of Marfan is tailored to the specific symptoms of each patient. Some patients find that the syndrome has little impact on their overall lifestyle; others have found their lives centered on the disorder.-

Answer 4

Marfan's syndrome is a genetically inherited condition where there is an abnormal production of collagen. It makes some of your body parts more elastic. People with Marfans usually have long fingers, tall stature. They are more prone to heart conditions and dislocation of the lens in the eyes.

Answer 5

between the extra enduring theories approximately President Lincoln's well-being arose interior the early Sixties. a healthcare expert revealed a paper in 1964 interior the magazine of the yank scientific association which reported that President Abraham Lincoln had Marfan syndrome, a connective tissue sickness. The analysis replaced into in accordance with actual observations of Lincoln: the shown fact that he replaced into plenty taller than maximum adult adult males of his day had long limbs had an abnormally-formed chest (sunken in) had unfastened (lax) joints (in accordance with written descriptions) for the reason that then, different physicians have disputed a analysis of Marfan syndrome for Lincoln. some have argued that President Lincoln's arms did no longer have long, skinny arms, a hassle-unfastened looking in those with the syndrome. At a scientific workshop held in October 2001 in Cairo, Egypt, the scientists gathered there felt that there replaced into no longer adequate scientific data obtainable to truthfully diagnose President Lincoln with the sickness.

Answer 6

I can't improve on any of the answers, but if you want to talk with people who have Marfan's please feel free to contact me. I am the "owner" of a Marfan support group called Marfan Connection.