My 8 year old son with DiGeorge Syndrome has a very large aorta (ascending and aortic root). He had open heart surgery at 8 days old to correct many defects. He has always had a large aorta but it now brings up the topic of surgery. The timing of intervening is very uncertain because he is a child. His measurements include: Aortic root is 38.6 mm, ascending aorta is 37 mm in one area and 40 mm in another area. He also has a Z score/value of 12. I was told at a Z value of 8, they would intervene or be greatly concerned. They are treating this like a Marfan Syndrome case - he is on Cozaar and Atenolol to help slow the progression of growth. I am very concerned because this seems like "uncharted territory" and no one knows what to do and when to do it. My son's Cardiologist is going to check with another specialist (I'm assuming Cardiologist) who has more experience with this area. Have any of you ever seen situations like this? Any comments would greatly appreciated. Thank you.
Patients with DiGeorge syndrome are predisposed to a variety of congenital heart lesions, including tetralogy of Fallot and truncus arteriosus, among others. In those 2 heart defects the aorta is larger than normal from birth (z-scores greater than 2). You say your son had early heart surgery, so I am not sure if his particular heart problem was associated with a large aorta. However a z-score of 12 would be severely dilated, no matter what the underlying cause. You are correct that we are unclear if the risk for aortic rupture is the same for non-Marfan patients as it is for Marfan patients. Medical management with a beta blocker like Atenolol and a ARB like Cozaar are great because they are used in the Marfan population. The absolute size of the aorta and the rate of change in aortic size are the criteria used to decide if a surgery to support/replace the aortic root is indicated. So if his z-score used to be 5 or 6 and is now 12, then he likely needs surgery. Also if the aortic valve starts to leak due to the stretching of the aorta, that may indicate that the time for surgery has come. It is appropriate for your cardiologist to have your son's case reviewed by others for their opinion. Additonally genetic testing for connective tissue disorders would be indicated, even though we know he has DiGeorge syndrome. Rarely people have 2 genetic problems. Hope this helps.
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