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How is Marfan Syndrome diagnosed?

If you suspect you may have Marfan Syndrome you should visit your GP as soon as possible and ask for a referral if necessary.

The possibility of a diagnosis of the Marfan Syndrome can only be assessed after a complete physical examination that focuses on the systems affected by the disorder.

This includes:

  • Detailed family medical history.
  • Complete physical examination (arm span, chest deformities, length of fingers, flat feet, scoliosis etc).
  • Echocardiogram (ECHO) carried out by a Cardiologist.  This test is an ultra-sound on the heart.  Pictures and measurements are taken of the size of the Aorta at different points (usually the root – at the heart, arch – at the neck, and abdomen).  A sound recording of the working of the Mitral Valve is also taken.  This helps the Cardiologist decide on the best course of treatment for the heart
  • MRI or CT scan. An electro-cardiogram (ECG) is not adequate screening.
  • Slit-lamp eye examination by an ophthalmologist/eye-specialist.
  • Skeletal examination.

Genetic testing is possible, but this is usually only carried out if there is a strong possibility of Marfan Syndrome.  There are a very large number of possible mutations, so not all cases of clinically confirmed Marfan Syndrome will return with a positive genetic test.

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Weekend Masses in English

Saturday Morning: 8:00 am

Saturday Vigil: 4:30 pm

Sunday: 7:30 am, 9:00 am, 10:45 am,
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Weekend Masses In Español

Saturday Vigil: 6:15pm

Sunday: 9:00am, 7:15pm

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6654 Main Street
Cincinnati, OH 45202
(513) 555-7856