1 year ago, my now 11 year old son had an echocardiogram which indicated that his aortic root (descending) was dialated at approximately 2.1 and slight regurgitation was noted. However he also had a cardiovascular MRI which showed that his aortic root measurement was within the 2 standard deviations - I think at 1.4.
The conclusion was that the MRI measurement was more accurate and that he should have a follow-up measurement done in a year's time. He has just had his echocardiogram result and it is still at 2.1! We will have an MRI done next year, unless there is any symptom/problem that comes up over the next year to warrant further control by MRI.
My questions are:
1 - how important is the aortic root dilation measurements (how strong is the correlation to a dissection or other life threatening condition)
2 - why is there a difference between the MRI and Echocardiogram findings and should we only rely on the MRI and why?
3 - Why are growth spurts so important to monitoring the aortic root dilation and what should I be watching out for as his parent? His cardiologist said to report - "ANYTHING" unusual. Although I appreciate the cardiologists diligence, the wide net cast is alarming and I am not sure how to respond to "ANYTHING" unusual.
4 - What happens if his aortic root dilates beyond 2.1 from the standard deviation? Is it sudden or slow and is it possible to treat with medication or is surgery necessary?
5 - if surgery is necessary - from what I learned last year - the techniques used are quite experimental. Is that true?
As my son does not have any of the obvious characteristics of Marfans Syndrome, his doctor did not feel it was likely that he had it. His overall health is good, other than some asthma, allergies and 1 seizure that he had as a 4 year old, which was non-febrile and no cause was found despite neurological, cardiovascular and metabolic testing.
There are several different reasons why the aortic root can be dilated. One of the most common reasons is bicuspid aortic valve, a congenital defect in which the aortic valve has two out of the three leaflets fused together. Another one that you suggested is connective tissue diseases, such as Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes. It can also be seen in Turner syndrome, which affects girls only. Occasionally, it can be seen in isolation (normal aortic valve and connective tissue); this form of it is typically associated with the very least risk. Without evaluating your son, I can’t say for sure what his risks are, especially since I don’t have all of the information that I need. However, a normal Z-score range based on body surface area is -2 to +2; a Z-score of +2.1 is minimally dilated at best, and is likely not at any significantly increased risk. The greater risks are typically seen in an aorta that has an absolute diameter measurement of 5 cm or more, OR that has an increase of 0.5 cm per year. If he does have growth that goes beyond a Z-score of +2.1, it depends on how fast or how much he has dilated. Although there are no medications that have been proven to decrease or stop aortic dilation if there isn’t Marfan syndrome, there are trials going on looking at a couple of different therapeutic regimens to try to achieve this. In the meantime, if he does have severe dilation requiring surgical intervention, the approach to surgical repair that most folks use, the David procedure, has been around since 1992, so it is far from experimental.
There is a difference between MRI and echo because MRI is felt to be able to image the tissue structures much more accurately. However, they are also different modalities of imaging, and since MRI tends to be much more intensive and expensive, we typically use echo for routinely following this.
We tend to see changes during periods of rapid growth in the body, such as infancy and adolescence. This includes the heart and its associated structures, so we usually watch a bit more closely during adolescence. With regard to other changes, I would ask your cardiologist specifically what is meant by “anything”. Typically, these are fairly silent, though dissection can be associated with a severe tearing sensation in the chest. That said, it is also extremely rare in adolescents.
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