Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the connective tissues in the body. It can impact various systems, including the skeletal, cardiovascular, and ocular systems. 

 

Symptoms

The symptoms of Marfan syndrome can vary from person to person and may include:

  • Skeletal manifestations: Tall and slender body type, long limbs, joint hypermobility, scoliosis (curvature of the spine), and abnormalities of the breastbone (pectus deformities).
  • Cardiovascular manifestations: Aortic dilation or aneurysm (enlargement of the aorta), mitral valve prolapse, and other valve abnormalities.
  • Ocular manifestations: Lens dislocation, nearsightedness (myopia), and increased risk of retinal detachment.
  • Other features: Stretch marks on the skin, especially in areas of rapid growth, and a high-arched palate.

 

Risk factors

The primary risk factor for Marfan syndrome is having a family history of the condition. It is an inherited disorder, and if one parent has Marfan syndrome, there is a 50% chance of passing it on to their children.

 

Diagnosis

Diagnosing Marfan syndrome may involve:

  • Physical examination: Evaluating physical features and assessing the skeletal, cardiovascular, and ocular systems.
  • Family history: Inquiring about a family history of Marfan syndrome or related symptoms.
  • Genetic testing: Is needed to confirm the diagnosis.
  • Imaging tests: Echocardiogram, MRI, or CT scans may be used to assess the heart and aorta for abnormalities.

 

Treatment

Treatment for Marfan syndrome aims to manage symptoms, prevent complications, and improve quality of life. It may include:

  • Regular monitoring: Routine check-ups with a healthcare team specializing in Marfan syndrome to assess and monitor the heart, aorta, and other systems.
  • Medications: Medications may be prescribed to manage cardiovascular symptoms and reduce the risk of aortic complications.
  • Lifestyle modifications: Encouraging a healthy lifestyle, including regular exercise and avoiding activities that can strain the cardiovascular system.
  • Surgical interventions: In severe cases of aortic dilation or aneurysm, surgical repair or replacement of the affected aortic segment may be necessary.
  • Ocular management: Regular eye exams and treatment for any vision-related issues or complications.

 

When to consult a physician

Marfan patients should be monitored life long, even without symptoms.