Can anyone offer any information on my 13 year old son? He was recently diagnosed with aortic root dilation (z=4) and moderate aortic insufficiency. He is 5'1" tall and thin. He does not have specific signs of Marfan's. He is to see a genetic counselor soon to determine if he has a connective tissue disorder. He is asymptomatic, and this was found during a 'well' check. Any information or suggestions to ask his docs is greatly appreciated!
With a Z score of 4, which means that the aortic root is four standard deviations above the mean (normal is plus or minus 2) plus aortic insufficiency, it sounds like your son has some significantly abnormal cardiac findings, although there is more information that I would want to know. Thus, the things that you want to find out from your pediatric cardiologist are the following: is the aortic valve bicuspid or tricuspid?; is his left ventricle enlarged and is the function retained (or is it diminished)?; is he or will he be put on medication for this (e.g. an ACE inhibitor?; is there mitral valve prolapse?; does he have other signs of a connective tissue disorder (e.g. very elastic skin, easy bruising or problems with healing, etc.)?; inquire about other connective tissue disorders (including Ehlers-Danlos syndrome and Loeys-Dietz syndrome). It was good that he is otherwise well and this was found incidentally, which is not uncommon. However, based on this information, it is possible that he will eventually require surgical intervention for this, either for progression of the aortic root dilation or for the degree of aortic valve insufficiency.
Thank you so much for such a quick and thorough reply. I forgot to mention that he showed 'mild' LVH on the echo. I haven't seen the report to know the rest of the answers. Nothing else was mentioned by his cardiologist though. I certainly have a battery of questions to ask at the next visit. I will keep you updated. Again, thank you so very much for your help.
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