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Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome: Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome

Respuesta :

Folic acid metabolism enzyme polymorphisms are believed to be responsible for the elevation of homocysteine (HCY) concentration in the blood plasma, correlating with the pathogenesis of aortic aneurysms and aortic dissection.

What is Marfan syndrome ?

A genetic disorder that is primarily marked by skeletal alterations (elongated limbs and fingers, loose joints), displacement of the eye's lens, and a propensity for aneurysm development, especially of the aorta

  • The syndrome affects 7–17,000 people per 100,000. Aortic dissection, aortic rupture, or heart failure caused by mitral and aortic valve regurgitation account for more than 90% of deaths in Marfan syndrome patients with an average life expectancy of 32 years.

Learn more about Marfan syndrome here:

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