My 10 month old daughter was dx with an ascending aortic aneurysm in utero @ 20 wks. We have been to Boston childrens hospital, University of Virginia and work closely with her pediatric cardiologist here in Roanoke,Va. Our daughter also has multiple small facial and sublingual hemangiomas in which she is currently taking propranalol. So far, I have not found a physician who can dx her with any condition. She does not appear to have any connective tissue disorders, aortic coarctaion or heart valve insufficiency. She also has a trileaflet aortic valve. As i am greatful that she dosent have any known condition, I am educated in the field and have a strong feeling that there has to be a reason for this other than, it just happened. In my studies, I dont really see aortic aneurysms in infants that aren't presented with some other syndrome or condition. Another concern that I have is that currently we are monitoring this 2.0cm aneurysm (that also involves the innominant art.) and have no plans to do surgery. As I do not want my daughter to go through such a surgery. In your oppinion, do you feel that this is a safe approach to dealing with this?
Your daughter definitely has an unusual combination of features. There has been a single case report that I can find that documents a patient with aortic dilation, hemangiomas, and some findings that, today, might possibly be consistent with Loeys-Dietz syndrome (bifid uvula, pectus excavatum, joint hypermobility, and arachnodactyly). However, without further evaluating her, I cannot say if this is syndromic, or not.
With regard to the timing of her intervention, the medical literature at this point recommends intervention if the aortic growth rate is >0.5 cm/year, or if the size is >4.5 or 5.0 cm, depending on whether there is associated bicuspid aortic valve or Marfan syndrome. Therefore, it is not unreasonable to continue observation if it is 2.0 cm. You do not mention whether she is on any medications, such as an angiotensin receptor blocker like losartan, to try to control her aortic dilation. However, you may want to discuss this with your cardiologist in Roanoke and decide whether this is something that may potentially be helpful for her.
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