Marfan Syndrome: Condition that impacts connective tissue and organs

Connective tissue, or the fibers that support and attach your organs and other bodily components, is harmed by Marfan syndrome, a genetic condition. Marfan syndrome most usually affects the bones, blood vessels, heart, and eyes.

Patients with Marfan syndrome are often tall and thin, with abnormally long arms, legs, fingers, and toes. The negative consequences of Marfan syndrome can range from minor to serious.

The problem can become life-threatening if your aorta, a big blood artery that transports blood from your heart to the rest of your body, is impacted.

The most common form of treatment is taking drugs to lower your blood pressure and lessen the strain on your aorta. It is crucial to regularly monitor for damage development. Many Marfan syndrome patients eventually need to have preventative surgery to get the aorta repaired.

Causes

A gene abnormality that prevents your body from producing a protein that helps give connective tissue its flexibility and strength is what leads to Marfan syndrome.

The faulty gene for Marfan syndrome is often inherited from a parent who also has the condition. There is a 50/50 probability that the faulty gene will be inherited by each kid of an afflicted parent. Around 25% of those with Marfan syndrome have a defective gene that is inherited from neither parent. In these situations, a new mutation arises on its own.

How to check if you have Marfan Syndrome?

Speak to your doctor or paediatrician if you suspect that you or your child may have Marfan syndrome. You will probably be sent to a specialist for additional assessment if your doctor senses a problem.

Risk Factors

Men and women are equally affected by Marfan syndrome, which affects people of all racial and cultural backgrounds. The biggest risk factor for Marfan syndrome is having a parent who has the illness because it is a hereditary issue.

Symptoms

Since Marfan syndrome may have such a wide range of effects on the body, the signs and symptoms might differ significantly across family members. While some people only have minor side effects, others encounter potentially fatal consequences.

Features of Marfan syndrome may include:

• Tall and thin in stature
• Very long fingers, legs, and arms
• A breastbone with an outward or inward dip
• A high palate with an arch and packed teeth
• Heart flutters
• Abnormally close-sightedness
• A spine that is unusually curved
• A flat foot

Treatments

While there is no known therapy for Marfan syndrome, it can be prevented from developing certain side effects. You will need to have routine examinations to look for indications that disease-related harm is advancing.

People with Marfan syndrome often pass away at an early age. The majority of patients with Marfan syndrome may today anticipate living a relatively typical life span with routine monitoring and contemporary therapy.

Medications

In order to assist in preventing the aorta from expanding and to lessen the risk of dissection and rupture, doctors frequently prescribe blood pressure-lowering medications.

Therapy

A displaced lens in your eye can cause visual issues, but they are frequently treatable with glasses or contact lenses.

Techniques, both surgical and otherwise

Based on your symptoms and indicators, you could undergo:

Aortic surgery. If the diameter of your aorta surpasses 2 inches (50 millimetres) or if it develops fast, your doctor may suggest an operation to replace a portion of it with a synthetic tube. A potentially deadly rupture may be prevented in this way. You could also need to get your aortic valve replaced.

Treatment for scoliosis. When there is a significant amount of scoliosis, a spine expert should be contacted. Only very rarely are bracing and surgery necessary.

Breastbone adjustments. The look of a depressed or projecting breastbone can be improved surgically. As these procedures are frequently thought of as cosmetic, your insurance may not cover them.

Eye operations. In cases when the retina has torn or come loose from the back of the eye, surgery is usually a successful solution. If you have cataracts, your hazy lens can be swapped out for an artificial one.

Complications of Marfan Syndrome

Marfan syndrome may result in a wide range of consequences since it may affect practically any region of your body.

Cardiovascular problems

The heart and blood arteries are where Marfan syndrome's most harmful side effects occur. The aorta, a major artery that emerges from the heart and transports blood throughout the body, can become weak due to defective connective tissue.

The aortic aneurysm. The wall of your aorta may protrude like a weak point in a tyre due to the pressure of blood exiting your heart. This most frequently occurs at the aortic root, where the artery exits your heart, in persons with Marfan syndrome.

Aortic rupture. There are layers in the aorta's wall. Blood can press between the inner and outer layers of the aorta's wall due to a minor rupture in the innermost layer of the wall, which leads to dissection. That may cause excruciating back or chest agony. Aortic dissection impairs the vessel's structural integrity and raises the risk of a potentially deadly rupture.

Malformed valves. Marfan syndrome patients may have weakened heart valve tissue. Stretching of the valve tissue and aberrant valve function may result from this. Your heart frequently has to work harder to make up for improperly functioning heart valves. Heart failure may eventually result from this.

Problems with the eyes

Eye issues might include:

Lens displacement. Your eye's focusing lens may shift out of position if its supporting components deteriorate. Ectopia lentis is the medical word for this issue, and it affects more than half of those with Marfan syndrome.

Retinal issues. Marfan disease raises the chance of the retina, the light-sensitive tissue that lines the back wall of your eye, becoming detached or torn.

Cataracts or glaucoma that develop early. Marfan syndrome sufferers typically experience these eye issues at a younger age. Increased intraocular pressure brought on by glaucoma has the potential to harm the visual nerve. The typically clear lens of the eye develops hazy spots called cataracts.

Problems with the skeleton

Scoliosis and other aberrant spine curvature are more likely to develop in people with Marfan syndrome. Moreover, it may prevent the ribs from growing normally, which may result in the breastbone protruding from the chest or seeming to be sunken in. In Marfan syndrome, back and foot discomfort are frequent.

Problems with pregnancy

Marfan syndrome may weaken the aorta, the principal artery leaving the heart, and its walls. The heart pumps more blood than usual during pregnancy. This may place the aorta under additional strain, raising the possibility of a disastrous dissection or rupture.

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