What is Marfan Syndrome?

Marfan syndrome is an inherited disorder that affects the connective tissue. Connective tissue support and anchors your organs and other structures in the body [1].

This syndrome mostly affects organs like the heart, eyes, blood vessels, and skeleton. Individuals with this disease are typically tall and slim with abnormally lengthy arms, legs, fingers, and toes. Their spine might be bent and their breastbone (sternum) may either stand out or be indented. Their joints might be weak and may dislocate.

The effects of Marfan syndrome can be mild or serious. In this disease, the heart is most commonly affected. The aorta might be enlarged leading to death in severe cases.

 

What are the Symptoms of Marfan Syndrome?

The signs and symptoms of this disease can vary enormously from person to person, even among individuals of the same family because the disorder can influence different parts of the body. Some individuals experience just mild symptoms; however, others have lethal abnormalities.

Features of the Marfan syndrome may include [2]:

• Tall and thin body
• Very long arms, legs, and fingers
• Protruding breastbone
• Arched palate and crowded teeth
• Heart murmurs
• Extreme myopia
• Abnormally curved spine
• Flat feet

 

 Aortic aneurysm, Aortic dissection, Valve malformations, and lens and retinal problems are some of the complications of this disease [3].

 

What are the Causes of Marfan Syndrome?

Marfan syndrome is a genetic disorder. It is caused by an abnormality in the gene which enables your body to produce a protein that helps give connective tissue its elasticity and strength. Marfan syndrome is caused by a change in a gene called FBN1 [4]. One out of four individuals with Marfan syndrome fosters the condition for unknown reasons. 1 out of 2 people suffering from Marfan syndrome can transmit it to their offspring.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. In about 25% of people, mutation develops spontaneously. The greatest risk factor for Marfan syndrome is having a parent with the disorder.

 

Treatment Options for Marfan Syndrome:

There is no treatment for Marfan Syndrome. Symptomatic treatment is the only way to a better life. Treatment options to avoid complications include [5]:

• Aortic repair
• Scoliosis treatment
• Breastbone corrections
• Eye surgeries

Treatment is incorporating medicines to keep your pulse low to reduce the stress on your aorta. Regular observation to check for murmurs is essential. Many individuals with Marfan syndrome, at last, require preventive medical procedures to fix the aorta.

Back in time, an Individual with Marfan syndrome would not ordinarily live past the age of 45. Today, with better treatment options, individuals can live past that. Proper prevention and care can improve the quality of life and may prolong it. Most people die from heart-related complications of Marfan Syndrome.

 

 

References:

1. https://www.ncbi.nlm.nih.gov/books/NBK537339/
2. https://www.ncbi.nlm.nih.gov/books/NBK537339/#:~:text=The%20patients%20with%20MFS%20display,deformities%20(excavatum%20and%20carinatum).
3. https://www.ncbi.nlm.nih.gov/books/NBK1335/
4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513064/#:~:text=Marfan's%20syndrome%20is%20a%20systemic,%2C%20and%20long%2Dbone%20overgrowth.
5. https://www.ncbi.nlm.nih.gov/books/NBK537339/#:~:text=%5B15%5D%20There%20is%20no%20specific,mitral%20valve%2C%20and%20aortic%20root.

 

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