Marfan Syndrome

Marfan syndrome is one of the many heritable diseases that can affect the connective tissue.

The connective tissue is one of the most abundant types of tissue found in the body. It is an important component with regards to supporting the organs of the body. It serves to provide the body its framework essential for growth and development. It also gives support and strength to the cartilage, heart valves, tendons, and other body parts. It, furthermore, provides the blood vessels its elasticity and strength.

The connective tissues of individuals affected by Marfan syndrome have an abnormal chemical makeup. This results to the connective tissues becoming weak, and because they can be found in different parts of the body. They can affect many organs such as the eyes, heart, bones, nervous system, lungs, skin, and blood vessels.

The effects of Marfan syndrome can be very devastating, especially when it affects the aorta of the heart. The aorta is the largest artery in the body which carries the blood to the body from the heart. The disease can cause the inner layers of the artery to weaken, thus it may lead to its destruction. And since the pressure on this artery is high, it may cause more damage, which can be deadly. If the valves of the heart are damaged, this may lead to the backflow of blood to the heart causing congestive heart failure.

Symptoms of Marfan Syndrome

Marfan syndrome can affect people in various ways. Some may only exhibit mild symptoms while others may be affected severely. As the affected person becomes older, the disease will progress causing severe symptoms. The symptoms may also vary depending on the organ or system affected. Individuals affected by the disorder in the skeletal system are often slender, loose-jointed, and very tall. This is because the disease affects the body’s long bones. This causes disproportion of the body and the person’s legs, arms, toes, and fingers. The teeth may also be crowded because of arching in the roof of the mouth. Other symptoms may include the abnormal protrusion or indention of the breastbone, abnormal curvature of the spine such as: scoliosis, kyphosis, or lordosis, and flat feet.

One of the most devastating effects of the Marfan syndrome occurs when the cardiovascular system is affected. The largest artery that transports the blood to the body from the heart or the aorta may become stretch and weak because of the disease otherwise known as aortic dilatation. This may cause tearing or the rupture of the aorta leading to serious problems and even death. If the valves are affected, it may result to the backflow of blood leading to accumulation of blood in the heart. This may lead to symptoms such as: palpitations, fatigue, and shortness of breath.

The tiny air sacs or alveoli of the lungs are also composed of connective tissues. When Marfan syndrome affects the tiny air sacs, they may become swollen and stretched, therefore, increasing the risk of the lungs collapsing. In some cases, the disease may cause breathing disorders during sleep such as sleep apnea (See: Sleep Apnea Symptoms and Sleep Apnea Treatment) or the cessation of breathing while sleeping and snoring.

Causes of Marfan Syndrome

Marfan syndrome is due to a defect that has occurred in the structure fibrillin in the gene. Fibrillin contributes to the elasticity and strength of connective tissues. The disease is inherited in most cases even though only one parent has the disorder. The chance of passing down the disease is about 50%. In rare cases, the gene may develop a defect without known cause. Although the cause is the same, the symptoms vary from each patient.

Treatment of Marfan Syndrome

Unfortunately, Marfan syndrome still has no known cure. The goal of treatment is to treat symptoms and prevent complications. The treatment plan also varies depending on the system or organ affected varies from one person to another. For problems in the skeletal system, the physician may ask the patient to undergo annual check-up to monitor changes in the sternum or spine. This is essential, especially for growing children. This is important because certain malformation in either spine or sternum can alter the function of the lungs and heart. In some cases, surgery or an orthopedic brace may be needed to correct or prevent further damage.

Patient’s whose cardiovascular system is affected is recommended to undergo a frequent checkup and laboratory tests such as echocardiograms. This is to ensure that the heart is functioning well, and the aorta is in a good status. This is also done to identify potential problems, making treatment early and lowering the risk of complications that are life-threatening. For patients with current heart problems, it is advised to report immediately symptoms such as: abdominal, back, or chest pain. The patient may also be prescribed with certain medications like beta-blockers to decrease aortic pressure. In severe cases, surgery may be required to repair the valve or aorta.

People with Marfan syndrome are also recommended to undergo certain lifestyle changes. This includes cessation of smoking, especially if the respiratory system is affected. The patient should also consult a physician for sleeping problems. It is also important for the patient to have a well-balanced diet. Aerobic exercises also show to promote cardiovascular and skeletal health. Isometric exercises, competitive and contact sports should also be avoided. Pregnant patients should also be monitored frequently because of the stress it may impose on the heart.

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