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Fibrillin-1, a crucial extracellular matrix protein in both elastic and nonelastic tissues, is encoded by the FBN1 gene. The gene responsible for MFS is called FBN1.

The analysis of genetic testing for FBN1 is condensed in this monograph. MFS evaluation and management are covered individually.

The disease gene for MFS was discovered to be the FBN1 gene in the early 1990s. Numerous MFS patients have been shown to carry thousands of pathogenic FBN1 mutations since its discovery.

Causes

Marfan syndrome is brought on by FBN1 gene mutations. A protein called fibrillin-1 is made using instructions from the FBN1 gene. Microfibrils are formed when fibrillin-1 interacts with other fibrillin-1 proteins as well as other molecules. The growth and repair of tissues and organs throughout the body are also regulated by the release of growth factor molecules, which microfibrils bind to and release at different times. There may be a decrease in the amount of functional fibrillin-1 available to generate microfibrils due to a mutation in the FBN1 gene.

Inheritance

One mutated allele copy in each cell is adequate to cause the ailment because this situation is inherited in an autosomal dominant mode.

A fresh mutation in the FBN1 gene is reliable for at least 25% of Marfan syndrome patients. People in these occurrences don't have a family record of the disorder.

How does marfan syndrome manifest?

There are conditions when Marfan syndrome is so mild that few, if any, signs are instantly obvious. In most cases, symptoms become obvious as connective tissue changes take place with aging.

Marfan syndrome, which damages connective tissue, can have an impact on every system in the body, including the skeletal system, heart and blood vessels, eyes, skin, and internal organs.

Physical Attributes

Features of the body include:

• An extended, thin face.
• A tall, lean physical type.
• Possibly excessively long arms, legs, fingers, and toes in comparison to the rest of your body.
• A curved spine. 60% of persons with Marfan syndrome have scoliosis.
• Sternum, the breastbone, which may protrude or be indented.
• Joints that are fragile and liable to dislocation.
• Wide feet.
• Dental problems

Dental issues consist of:

• Packed teeth.
• Narrow and more arched than usual palate (roof of the mouth).

In what way is Marfan syndrome identified?

A group of medical professionals may be involved in making the diagnosis and creating the treatment plan for Marfan syndrome because it can impact tissue throughout your body.

Your medical history will be taken, a physical exam will be performed to check for common Marfan syndrome symptoms, questions will be asked about your current symptoms, and information will be gathered about any family members who may have experienced Marfan syndrome-related health issues.

The following tests may be used to assess heart, blood vessel, and cardiac rhythm issues:

• A chest X-ray to examine the edge of your heart.
• 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.