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AORTA DISEASE AND MARFAN SYNDROME

Marfan syndrome (also known as Marfan’s syndrome) is a condition which affects the connective tissue of the body. This connective tissue holds the whole body together and provides help and support to all the structures throughout the body. In Marfan syndrome, the connective tissues are not normal. As a result, many body systems and organs are affected, including the heart, bones, blood vessels, cartilage, eyes tendons, skin, nervous system, and lungs.

Complications

There are many complications in Marfan syndrome among them the most dangerous complications of Marfan syndrome involve are of the blood vessels and heart leading to Aortic Diseases. The faulty connective tissue may weaken the aorta which is the largest artery that arises from the heart and supplies body with the blood. These complications include:

Aortic aneurysm; The pressure of blood leaving the heart can cause the wall of our aorta to bulge out, just like a weak spot in a tire. The people who have the Marfan syndrome, this complication is most likely to happen at the end aortic root, where the artery leaves our heart.

Aortic dissection; The walls of the aorta are made up of multiple layers. Dissection occurs when a small tear happens in the innermost layer of the aorta wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause the severe pain in the chest or back. An aortic dissection weakens the vessel structure and may result in a rupture which may be fatal.


Sign and Symptoms

The sign and symptoms of Marfan syndrome vary greatly even among the members of the same family. Some people experience the mild effects but others may develop life-threatening complications. In most cases, the disease tends to get worse with age.

Marfan syndrome features can include:

Disproportionately long arms, legs, and fingers

A high, arched palate and crowded teeth

Heart murmurs

A breastbone that protrudes outward or dips inward

Extreme nearsightedness

An abnormally curved spine

Tall and slender build

Flat feet


Cause

Marfan syndrome is caused by a defect in the gene that enables our body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from the parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting defective gene. In about 25 percent of the people who have the Marfan syndrome due to the abnormal gene does not come from either parent. In these cases above a new mutation develops spontaneously.


Risks factor

Marfan syndrome men and women equally and occurs among all races and groups. Because it is a genetic condition and the greatest risk factor for Marfan syndrome is having a parent with the disorder.

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