Marfan Syndrome

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Marfan-syndromeMarfan syndrome is a disorder that involves the connective tissue that strengthens and holds the structures of your body. It affects many parts of your body since connective tissues are found in them. It is often found in the eyes, blood vessels, heart, bones and joints. The disease is hereditary. If a parent has Marfan syndrome, there is a 50% chance of passing it to the child. The symptoms or features may appear at any age and can get worst as people age.

Causes

The defect in the gene called fibrillin-1 is the main cause of Marfan syndrome. The gene plays an important role in the body because it is the building block for the connective tissues. The result is increase in protein causing features of Marfan syndrome.

Symptoms

The symptoms of Marfan syndrome depend on where the defect in the gene happens. It can occur in the different parts of your body. Some are easy to see while other features are hidden and needs to be tested for confirmation. Certain body systems are affected for those who have Marfan syndrome:

  • Cardiovascular system
    • The main blood vessel that carries blood from the heart may enlarge
    • Tearing or separation of the aorta (aortic dissection)
    • Mitral valve prolapse
  • Skeletal System
    • Mitral valve prolapse
    • Tall and thin body
    • Long arms and legs
    • Curved spine (scoliosis or kyphosis)
    • Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
    • Spider-like fingers
    • Flexible joints
    • Flat feet
    • Crowded teeth and highly arched palate
    • Small lower jaw
    • Thin and narrow face
  • Ocular system
    • Nearsightedness
    • Dislocated lens of the eye
    • Early glaucoma
    • Early cataracts
    • Detached retina
  • Other systems
    • Stretch marks not caused by pregnancy or weight gain
    • Lung collapse
    • Swelling of the sac around the spinal column

Tests and Diagnosis

To confirm Marfan syndrome, the physician must conduct tests and procedures

  • Physical exam
  • Slit lamp Eye exam
  • Echocardiogram
  • Electrocardiogram (ECG)
  • Fibrillin-1 mutation testing
  • Other tests such as CT scan or MRI of the lower back

Treatment

There is still no cure for Marfan syndrome, but there are options for you to prevent and minimize complications. Primarily, the physician will treat the symptoms present and depends which system is affected.

  • Cardiovascular system
    • Beta-blockers are given for those who have heart valve problems, and eventually decrease stress on the aorta
    • Surgery may be an option to replace a valve or repair the aorta.
  • Skeletal system
    • Annual evaluation is needed to determine changes in the spine or breastbone. Orthopedic brace may be given and surgery may be recommended.
  • Ocular system
    • Regular eye examinations to correct vision problems. Eyeglasses or contact lenses can help correct the problem
  • Nervous system
    • Medication may be given to minimize pain if there is a swelling in the covering of the spinal cord
  • Pulmonary system
    • Treatment for symptoms like pain by taking deep breath, shortness of breath or dry cough should be given immediately.
  • Physical activity
    • They are not encouraged to compete in sports especially if they do not know the dangers involved. Contact or competitive sports are dangerous for them.

Prevention

Marfan syndrome cannot be prevented since it is hereditary. See your doctor at least once a year if you have Marfan syndrome.

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  • All childcarefirstaid.ca content is reviewed by a medical professional and / sourced to ensure as much factual accuracy as possible.

  • We have strict sourcing guidelines and only link to reputable websites, academic research institutions and medical articles.

  • If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please contact us through our contact us page.