Loeys Dietz Syndrome and the Aorta

Loeys-Dietz syndrome is a connective tissue disorder that is manifested hypertelorism (widely spaced eyes) and a bifid or broad uvula. Abnormal scarring, translucent, thin skin is a common feature. These patients have tortuous blood vessels that are prone to aneurysm formation and dissection.  The most common area of aneurysm formation is the aortic root.  Many patient are misdiagnosed as having Marfan syndrome.  Loeys-Dietz patients need surgery on the aortic root when diameter is 4 cm since dissections have been documented at this diameter. Valve-sparing root replacement is the operation of choice for this group of patients.