Marfan Syndrome is a genetic disorder, which can affect the heart, blood vessels, spine, chest, joints, and eyes. Cardiovascular abnormalities are the most important to detect as they may be life threatening.
Clinical Abnormalities
- Cardiovascular abnormalities may include mitral valve prolapse, mitral regurgitation, aortic root dilation, aortic valve regurgitation, aortic aneurysm and aortic dissection
- Skeletal abnormalities may include scoliosis of the vertebral column, disproportionately long, thin arms, legs, fingers, and toes, increased height, increased joint mobility and flexibility, anterior chest malformation, and breastbone may either noticeably cave inward or noticeably protrude outward
- Abnormalities of the eyes may include dislocated or partially dislocated lenses, myopia (nearsightedness) and corneal flatness
Diagnosis
A detailed medical and family history should be examined.
A physical examination, including:
- an echocardiogram to detect cardiovascular abnormalities
- a careful musculoskeletal examination
- an eye slit lamp examination (done by an ophthalmologist to determine any lens dislocation)
Treatment
The most critical treatment involves observing the aortic root dilation every 6 months to one year to monitor the extent of dilation. The normal size of the aortic root in an adult is 2.5 centimeters or 1 inch, but may vary depending on age and size. If the aortic root dilates to a size above 5 centimeters doctors may recommend surgery to replace it. The survival rate for elective surgery to replace an ascending aortic aneurysm is greater than 95%.
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