By Hariharan, Physiotherapist, Trichy

Marfan Syndrome is a rare genetic disorder that affects the body’s connective tissue — the fibers that support and anchor organs and structures. Since connective tissue is present throughout the body, Marfan Syndrome can involve multiple systems including the skeletal, cardiovascular, and ocular systems. Early diagnosis and proper management are crucial to prevent life-threatening complications.

Cause and Genetics

Marfan Syndrome is caused by a mutation in the FBN1 gene, which is responsible for producing fibrillin-1, an essential protein for connective tissue strength and elasticity. It follows an autosomal dominant inheritance pattern, meaning a child has a 50% chance of inheriting the condition if one parent is affected. However, some cases occur due to spontaneous mutations.

Clinical Features

  • Tall and slender body
  • Long limbs, fingers, and toes
  • Chest deformities (pectus excavatum or pectus carinatum)
  • Scoliosis or abnormal spinal curvature
  • Joint hypermobility

Diagnosis

Based on clinical evaluation, family history, and imaging studies. The Ghent criteria are widely used for confirming Marfan Syndrome.

Investigations Include

  • Echocardiography (to assess aortic root)
  • Eye examination
  • Genetic testing

Physiotherapy Role

As a physiotherapist, the role is vital in improving functional capacity and preventing complications:

  • Postural correction exercises
  • Core strengthening and stabilization
  • Breathing exercises for chest expansion
  • Low-impact aerobic activities (e.g., walking, cycling)
  • Avoidance of high-intensity or contact sports