Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Pathophysiology and Treatment of Marfan Syndrome

Harry Noah^{* *}Correspondence: Dr. Harry Noah, Department of Medical Genetics, NHS Grampian, Argyll House, Foresterhill, AB25 2ZR, Aberdeen, UK, Email:

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Description

Connective tissue is impacted by the multi-systemic hereditary condition known as Marfan Syndrome (MFS). People who have the syndrome are typically tall and skinny, with long fingers, toes, and arms. They frequently also have spines that are unnaturally bent and extremely flexible joints. The organs such as heart, eyes blood vessels are mainly affected due to Marfan syndrome. In heart, the risk of mitral valve prolapse increases and leads to aortic aneurysm. In addition to these organs, the covering of the spinal cord, bones, and eyes are frequently impacted. Variable symptom severity is seen. The connective tissue that binds human body together is affected by Marfan syndrome.

Marfan syndrome can have modest or severe negative effects. The problem can become life-threatening if aorta, a big blood vessel that transports blood from the heart to the rest of human body, is impacted. Due to the fact that this ailment can impact different body regions, need to schedule appointments with several healthcare professionals who are knowledgeable in these areas. People with Marfan syndrome live longer.

Symptoms of marfan syndrome

Marfan syndrome symptoms might differ significantly from person to person. Some people only experience a few minor symptoms, while others experience more severe problems. Most of the time, Marfan syndrome worsens as people age. Because Marfan syndrome can have such a wide range of effects on the body, the signs and symptoms might differ significantly among family members. While some people only have minor side effects, others experience potentially fatal consequences. Marfan syndrome can have severe, swiftly progressing difficulties in some individuals throughout infancy, frequently having a significant impact on many organ systems early in life. Numerous bodily systems, including the heart, blood vessels, skeleton, eyes, lungs, and skin, may be impacted by Marfan syndrome.

Causes of marfan syndrome

A gene abnormality that prevents the body from producing aprotein that helps give connective tissue its flexibility and strength is what leads to Marfan syndrome. Marfan syndrome is typically inherited. The pattern is "autosomal dominant," which means it affects both men and women equally and can be passed on from just one parent who has Marfan syndrome. Marfan syndrome carriers have a 50% probability of passing the condition on to each of their offspring. Including the skeleton, blood arteries, eyes, lungs, skin, and heart.

Treatment

The precise symptoms that are present in each person with Marfan syndrome are targeted for treatment. A multidisciplinary team of specialists, including geneticists, surgeons, cardiologists, dentists, ophthalmologists, orthopedists, and other medical personnel, may be necessary for treatment. The most common form of treatment is taking drugs to lower blood pressure and lessen the strain on human aorta. It's crucial to regularly monitor for damage progression. Aorta repair surgery is eventually necessary for many persons with Marfan syndrome.

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

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

Conclusion

The connective tissue binds human body together is affected by Marfan syndrome. A gene abnormality that prevents the body from producing a protein gives connective tissue its flexibility and strength. A patient, without a family history of Marfan syndrome, computed tomography can play an important role in diagnosis by identifying one of major cardiovascular diseases. Marfan syndrome carriers have a 50% probability of passing the condition to each of their offspring. The most common form of treatment is taking drugs to lower blood pressure and lessen the strain on human aorta.