Marfan Syndrome: Causes , Symptoms, Diagnosis, Treatment

The genetic disorder known as Marfan syndrome causes damage to connective tissue or the fibers that hold your organs and other body components in place. The most often affected organs by Marfan syndrome include the heart, eyes, blood vessels, and skeleton.

Patients with Marfan syndrome typically have very long limbs, legs, fingers, and toes. They are also frequently tall and slender. Marfan syndrome can have mild or severe negative effects on a person. If your aorta, a large blood vessel that carries blood from your heart to the rest of your body, is affected, the condition could become fatal.

The usual course of treatment is taking blood pressure medications to reduce the stress on your aorta. It's important to keep an eye out for damage development. Surgery for prevention will eventually be required for many Marfan syndrome patients.

Causes Of Marfan Syndrome

An abnormality in the gene that codes for fibrillin and elastic fibers, two important elements of connective tissue, results in Marfan syndrome. Its official name is FBN1 or fibrillin-1.

Marfan syndrome is usually passed down through the family. Since only one parent has Marfan syndrome, the pattern is known as "autosomal dominant," which means it affects both men and women equally. A 50% probability exists that each child of a person with Marfan syndrome will also have the condition.

A new gene abnormality develops in 25% of instances for an unidentified reason. Because not everyone with Marfan syndrome experiences the same symptoms and because some people may experience worse symptoms than others, Marfan syndrome is sometimes known as a hereditary illness with "variable expression."

At birth, a baby has Marfan syndrome. But you might not get a diagnosis until you're a teenager or a young adult.

Symptoms Of Marfan Syndrome

The signs and symptoms of Marfan syndrome may vary greatly among family members due to the vast range of physical affects it can have. Others may suffer potentially lethal results, while others just encounter minor side effects.

Some characteristics of the Marfan syndrome could be:

• Abnormally long fingers, legs, and arms;
• A tall and slender build;
• And an outward or inward dip in the breastbone
• Heart flutters
• Abnormally close-sightedness
• A spine that is unusually curved
• A flat foot

Diagnosis Of Marfan Syndrome

A group of medical professionals may work together to confirm the diagnosis and create a treatment plan for Marfan syndrome because it can impact tissue all over your body.

They will first collect your medical history, perform a physical examination to check for common Marfan syndrome symptoms, inquire about your symptoms, and learn about any family members who may have experienced Marfan syndrome-related health issues.

To evaluate abnormalities with the heart, blood vessels, and cardiac rhythm, the following tests may be used:

• A chest X-ray to look at your heart's border.
• ECG to examine the rhythm and beat of the heart.
• To check for heart valve issues, have your heart evaluated for ventricular thickening or dilatation, and have your aorta inspected for enlargement, dissections (tears), or aneurysms.

You might require additional testing if your doctor can't see parts of the aorta on an echocardiography or if they suspect a dissection may have already occurred.These consist of:

• Echo transesophageal (TEE).
• (MRI) Magnetic resonance imaging.
• CT scan for computed tomography.
• Checking for dural ectasia frequently necessitates a CT or MRI. The spinal column's lining swells in a condition known as dural ectasia. Despite the fact that it frequently has no symptoms, some individuals may link it to back discomfort. The presence of dural ectasia, which can also be seen with other connective tissue disorders, aids in the diagnosis of Marfan syndrome.

Diagnosing Marfan syndrome may be aided by a blood test. The FBN1 gene, which causes the majority of cases of Marfan syndrome, is the focus of this genetic test.

Since the results of FBN1 tests are not always clear-cut, a genetic counsellor should analyse your genetic testing. Additionally, blood testing can be performed to assist identify additional genetic changes that result in physical symptoms, including Loeys-Dietz syndrome.

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Treatment Of Marfan Syndrome

If you have Marfan syndrome, you should receive treatment according to your unique medical needs. Some folks might only require routine follow-up visits with their healthcare provider instead of any therapy. Others might require medical treatment or surgery. The strategy is determined by the bodily parts involved and the severity of your ailment.

Medications

Marfan syndrome is not treated with medication, but it may be used to stop or manage consequences. Medications might consist of:

Early treatment with beta-blockers is recommended. Your doctor may recommend a calcium channel blocker if you are unable to take beta-blockers due to asthma or adverse effects.

ARBs: Angiotensin receptor blockers (ARBs) are prescribed to treat heart failure and excessive blood pressure. ARBs can decrease the expansion of the aorta just as effectively as beta-blockers, according to recent clinical trials.

Surgery

Surgery for Marfan syndrome aims to correct valve issues and stop the aorta from dissecting or rupturing.

Surgical decisions are made depending on:

• Your aorta's diameter.
• The aorta should be its usual size.
• Growth rate of the aorta.
• Your sex, age, and height.
• Aortic dissection in the family history.

The conventional procedure involves replacing the aorta with a graft and the aortic valve with a mechanical valve.

Valve-sparing modified reimplantation procedure: Your own aortic valve is reimplanted after your aorta is replaced with a tube transplant. When possible, the valve-sparing technique is used, and a skilled surgeon should perform it.

If you require surgery, pick a large health system that has experience performing this kind of operation.Thanks to increasing understanding of Marfan syndrome, early detection, thorough follow-up, and safer surgical techniques, patients are experiencing better results.

Marfan syndrome can cause problems with other areas of your body, which may require medical attention. When you have issues with your bones, eyes, or lungs, medical professionals who focus on specific conditions can help.

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