My 8 year old daughter had a successful VSD/PFO repair at age 3. On our yearly followup exam in 2008 we were told her aorta was somewhat dilated. In Sept 2009 we were told her aorta had further dilated. Her aortic root and ascending aorta had a significant increase from Sept 2008 to Sept 2009 her AA z score went from 2.97 to 5.17. She was put on Lisinopril and exercise restrictions. We were sent to the Genetisist (went in 2004 for Marfan workup (neg)) to be worked up for Loeys Dietz. The genetic test came back negative and the MRA showed no tortuosity and so most likely this is not the cause. She does not fit into any defined connective tissue disorder although she has many markers. She is adopted and we know nothing about her family history. The Genetisist recommended a cardiac MRA which we had done in November. Between September (cardiac echo) and November( cardiac MRA) there was no change in her aorta. So we were told to come back in a year for another MRA. My question for you is this seems like a really long time. Even though there was no change in 2 months if she has another increase like last year couldn't her aorta rupture. I told them I thought that was too long so we are going back in 6 months with an echo. It seems to me that this large of an increase is something serious especially when you don't know the cause. Am I overreacting? Is there anything else we should be doing.
There are several causes for aortic dilation. One of the more common causes is a genetic abnormality. These include Marfan syndrome and Ehlers-Danlos syndrome. Loeys-Dietz syndrome is much less common, but certainly has significant aortic dilation and tortuosity, as you know. You don’t mention if your daughter was evaluated for Ehlers-Danlos syndrome, however, and this is something that you may want the geneticist to consider. Also, patients with Turner syndrome can have aortic dilation, so this should be ruled out, as well.
Another etiology of aortic dilation is bicuspid aortic valve. You don’t mention whether this was included in the original diagnosis of your daughter, but I would presume that, by not mentioning it, the aortic valve was normal.
For our other readers, aortic dilation can also be seen in patients who have congenital heart defects that involve the outflow tracts or great arteries, such as tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, etc., even after there has been surgical intervention for these defects.
In regards to the timing of follow-up, I can’t say for sure, as I don’t also know her actual aortic root measurements. In adult-sized patients, we talk about a threshold of 5 cm diameter being the edge of increased risk for rupture (and an indication for surgical intervention). We also talk about dilation of at least 0.5 cm/year as another indication for surgical intervention. As an 8-year-old, her rate of body growth is less than that of an adolescent, so I would not expect exceedingly rapid dilation of her aorta. After evaluating the various studies, your cardiologist and geneticist probably feel that there is enough stability in her aortic diameter that 6 months is certainly a safe time to wait.
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