Marfan Syndrome With Bicuspid Aortic Valve Diagnosed By Transesophageal Echocardiography

In diagnosing MS, even though investigators recently identified a defective FBN 1 gene as cause of this hereditary condition, employing a genetic test a sa diagnostic tool is not partical in the near future (3). This is because of the extreme variability in the FBN 1 gene on chromosome 15. It has been shown (1) that transesophageal echocardiography (TEE) provides rapid diagnostic information in patients with MS with suspected aortic dissection and enhances the assessment of cardiovascular manifestations of this condition. Cystic medial necrosis and bicuspid aortic valves in patients without the overt clinical signs of MS are reported in (4). Using TEE, it has been shown (5) that bicuspid aortic valves are associated with ruptured aortic dissection in the left atrium. Despite many reports in which TEE has been shown to reveal cardiovascular manifestations of MS, the association of MS with bicuspid aortic valves has not been made.