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.
