My18 month old daughter has an ascending aortic aneurysm with a z-score of 5.9 (the measurement is 2.2 cm). This has grown steadily since birth. Originally, we had a diagnosis of aortic stenosis, and we were not advised of the diliation of her aorta until she was 4 months old. As she has grown, it has become evident that her aortic valve is functionally bicusbid. She currently takes 1ml of propranalol solution twice a day. I hope that is enough background information.
My question is at what point do we need to be seeking out a surgeon? I want to have time to find the right surgeon before she gets to the point that sugery is an imparitive. Also, does this have any impact on getting a diagnosis of Marfan's Syndrome under the new diagnostic criteria?
The criteria for surgical intervention for aortic aneurysms are a diameter of 5.0 cm or a growth rate of 0.5 cm/year. That said, these are adult criteria; we do not have specific scaled down criteria for children of which I am aware. You may want to speak with your cardiologist at this point and discuss what cutoff would be appropriate for surgical intervention at the local institution.
As far as the cause of the aneurysm, the medical literature has been increasingly recognizing bicuspid aortic valve as an independent etiology of aortic root and ascending aortic dilation. Therefore, although Marfan syndrome may be another cause of it, and I cannot tell in your daughter without evaluating her, the likelihood here is that the bicuspid aortic valve is the cause of her aortic changes. However, a genetics evaluation is not unreasonable to ensure that there are no other potential causes.
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