Saturday, November 26, 2011
CELEBRITY SATURDAY: The show must go on!
Marfan syndrome is a genetic disorder with a variety of identifiable clinical features. It is passed on through a dominant gene. It strongly affects the development of connective tissue. Signs include:
Body type: above average height, slender limbs, long fingers and toes. 
Eye problems: myopia (nearsightedness), astigmatism, dislocation of the lens or detachment of the retina.
Cardiovascular problems: degeneration of the valves, mitral valve prolapse, aortic regurgitation, dilated aorta, aortic aneurysm, poor circulation (resulting in cold hands and feet).
Lungs: at risk for spontaneous pneumothorax and sleep apnea
Central Nervous System: dural ectasia (the weakening of the membrane that encases the spinal cord)
There is no cure for Marfan syndrome; just treating each symptom as it arises and monitoring cardiovascular health/other risks.
Jonathan Larson, the playwright responsible for the musical RENT, suffered from undiagnosed Marfan syndrome. He died at age 35 of an aortic dissection the day before opening night of the play. 

CELEBRITY SATURDAY: The show must go on!

Marfan syndrome is a genetic disorder with a variety of identifiable clinical features. It is passed on through a dominant gene. It strongly affects the development of connective tissue. Signs include:

  • Body type: above average height, slender limbs, long fingers and toes. 
  • Eye problems: myopia (nearsightedness), astigmatism, dislocation of the lens or detachment of the retina.
  • Cardiovascular problems: degeneration of the valves, mitral valve prolapse, aortic regurgitation, dilated aorta, aortic aneurysm, poor circulation (resulting in cold hands and feet).
  • Lungs: at risk for spontaneous pneumothorax and sleep apnea
  • Central Nervous System: dural ectasia (the weakening of the membrane that encases the spinal cord)

There is no cure for Marfan syndrome; just treating each symptom as it arises and monitoring cardiovascular health/other risks.

Jonathan Larson, the playwright responsible for the musical RENT, suffered from undiagnosed Marfan syndrome. He died at age 35 of an aortic dissection the day before opening night of the play. 

Notes

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    Great expression: Recognize it. And there’s the aortic dilation. Most of these kids can live long lives. There are many...
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    CELEBRITY SATURDAY: The show must go on! Marfan syndrome is a genetic disorder with a variety of identifiable clinical...
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