Marfan’s Syndrome

Definition:

Marfan’s Syndrome is a genetic disorder that affects connective tissues, primarily within the cardiovascular, musculoskeletal, and ocular systems.

Clinical Features:

Cardiovascular System:

Individuals with Marfan’s Syndrome often present with abnormalities in the heart and blood vessels. These may include aortic enlargement or aneurysm, mitral valve prolapse, and aortic dissection.

Musculoskeletal System:

The disorder can manifest as various skeletal abnormalities such as tall stature, disproportionately long limbs and fingers, scoliosis, joint hypermobility, and a narrow, highly arched palate.

Ocular System:

Ocular complications in Marfan’s Syndrome often involve the lens, leading to myopia and an increased risk of lens dislocation. Other ocular issues may include retinal detachment and early-onset cataracts.

Etiology:

Marfan’s Syndrome is primarily caused by mutations in the fibrillin-1 (FBN1) gene. The FBN1 gene provides instructions for creating a protein important for the formation of elastic fibers found in connective tissues.

Diagnosis:

Marfan’s Syndrome is diagnosed based on clinical criteria such as the Ghent Nosology, which evaluates a combination of major and minor features across multiple body systems, as well as genetic testing to identify FBN1 gene mutations.

Treatment:

While there is no cure for Marfan’s Syndrome, management focuses on treating associated symptoms and preventing complications. Treatment may involve medications to control blood pressure, beta-blockers to reduce the risk of aortic dissection, regular cardiovascular monitoring, and surgical interventions when necessary.