Pediatric Heart Expert Forum
Increase in dilation of aortic root
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Increase in dilation of aortic root

My daughter is 12 years old has has a bicuspid valve.  At her cardiology visit yesterday, it was noted that her aortic root has increased a 1/4 of a diameter in six months.  In April her aortic root was measured at 2 3/4 in diameter, but has not increased to 3.  Her cardiologist mentioned of having a heretitary mutation test done to see if she is positive for the connective tissue disease.  He stated that if it comes back positive that she can be treated with medication.  My question is that if it comes back negative, what can be done to stop the root from getting bigger and if it does continue to grow at this pace, would she need to have surgery?  I am very concerned since her cardiologist stated that this is abnormal for a child her age with a bicuspid valve.  
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Dear Dpmac,

Bicuspid aortic valves (BAoV), in which the aortic valve has 2 leaftlets instead of three, can have several complications over time.  The valve can become obstructed (stenotic) or leaky (insufficient/regurgitant).  There can also be dilation of the aortic root or the aorta.  Typically, we consider an absolute diameter of 5 cm or a growth rate of 0.5 cm over one year as an indication for surgical intervention in patients with Marfan syndrome.  We don't have a similar set of guidelines for patients with BAoV, but this is probably reasonable.

I am not aware of any specific genetic testing associated with BAoV at this time and, even if there is, it is not likely to be associated with any risk stratification or have any impact on therapy.  There is no good research on therapy for prevention of aortic dilation in BAoV right now.  However, there has been anecdotal use of beta blockers as well as ACE inhibitors and angiotensin receptor blockers (ARBs) in these patients.  There is certainly much more literature on the use of these therapies in Marfan syndrome, but I do not know if this is translatable to BAoV.  This would be something that you would have to discuss with your cardiologist.
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