Marfan Syndrome is a genetic disorder affecting connective tissue, occurring in approximately 1 in 3,000 to 5,000 individuals worldwide.
It's caused by mutations in the FBN1 gene, which codes for fibrillin-1, a protein crucial for connective tissue formation.
Marfan Syndrome follows an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene is enough to cause the condition.
Common cardiovascular symptoms include aortic root dilatation, aortic dissection, and mitral valve prolapse, which can lead to heart failure and sudden death.
Skeletal abnormalities include long limbs, joint laxity, scoliosis, and chest deformities like pectus excavatum or carinatum.
Eye problems may occur, such as lens dislocation, cataracts, glaucoma, and retinal detachment.
Diagnosis is based on clinical evaluation, imaging tests, and genetic testing to identify FBN1 gene mutations.
Treatment involves a multidisciplinary approach, including beta-blockers to reduce aortic stress, surgical repair or replacement of the aorta, and valve-sparing techniques.
With proper management, including regular monitoring and lifestyle modifications, individuals with Marfan Syndrome can lead active and productive lives, although life expectancy may be reduced due to cardiovascular complications.
Early diagnosis and intervention are crucial to prevent or delay the onset of complications and improve overall prognosis.