MARFAN SYNDROME

Description

  • It is an inherited disorder
  • Affects the connective tissue
  • The syndrome affects the normal body growth

Symptoms

  • Unusually tall height
  • Long limbs
  • Large, flat feet
  • Loose joints
  • Long, thin fingers
  • A curved spine
  • A chest bone (sternum) that sticks out or caves inward
  • Crowded teeth
  • Learning disability
  • Movement of the lens of the eye from its normal position
  • Nearsightedness
  • Small lower jaw
  • Thin, narrow face

Causes

  • Genetic defect occurs in a protein called fibrillin-1
  • Autosomal dominant transmission
  • A new mutation

Risk Factors

  • Affects men and women equally
  • Occurs among all races and ethnic groups
  • Greatest risk factor is having a parent with the disorder

Diagnostic Tests

  • Echocardiogram (ECG)
  • Computerized Tomography (CT) Scan
  • Magnetic Resonance Imaging (MRI)
  • Split-lamp Test
  • Eye pressure test
  • Genetic testing
  • Electrocardiogram (EKG)

Treatment

  • Medications
  • Therapy
  • Aortic repair
  • Scoliosis treatment
  • Breastbone corrections
  • Eye surgeries

Medications

  • Blood pressure lowering drugs
  • Losartan (Cozaar)

Prevention

  • Genetic counseling before having children
  • Seek medical attention
  • Have regular check-ups

Lifestyle Management

  • Avoid competitive sports and certain recreational activities
  • Brisk walking, bowling, doubles tennis or golf are generally safer
  • Use contact lenses instead of glasses
  • Wear a brace for scoliosis
  • Get dental work done for crowded teeth
  • Wear clothes that flatter a tall, thin frame