Marfan Syndrome

• Marfan syndrome: A genetic disorder of connective tissue.

• Cause: Usually associated with mutations in the FBN1 gene, which codes for fibrillin-1.
• Inheritance: Generally autosomal dominant.
• Skeletal features: Tall stature, long limbs and fingers (arachnodactyly), and abnormal curvature of the spine.
• Eyes: Dislocation of the lens (ectopia lentis) may occur.
• Heart & blood vessels: Can affect the aorta, including aortic root enlargement and aortic aneurysm/dissection.
• Genetic nature: It is not contagious.

Prelims Question

Q. With reference to Marfan syndrome, consider the following statements:

1. It is a genetic disorder of connective tissue.
2. It is associated with the FBN1 gene.
3. It can affect the aorta and eyes.

Which of the statements given above are correct?

(a) 1 and 2 only
(b) 2 and 3 only
(c) 1 and 3 only
(d) 1, 2 and 3

Answer: (d) 1, 2 and 3

Explanation:

• Statement 1 is correct: Marfan syndrome is an inherited disorder affecting connective tissue.
• Statement 2 is correct: It is commonly caused by mutations in the FBN1 gene, which provides instructions for making fibrillin-1.
• Statement 3 is correct: It can affect multiple organs, particularly the aorta, eyes and skeleton. Aortic enlargement and lens dislocation are important features.