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leaky aortic valve and enlarged aortic root
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leaky aortic valve and enlarged aortic root

My 17 year old son was going into delayed entry program with marines and they found a heart murmur. Took him to doctor, ordered an ECG, came back abnormal, Sent to have an Echo done. Red flags sent up and was told to stop all isometric exercises.  Pediatric cardiologist was not available so they sent him to adult cardiologist.  He sent us to have a CT scan done.  Upon that he sent us to a geneticist.  The geneticist ruled out any connective tissue disorder. His aortic valve does not open and shut properly but it is not bicuspid.  The aortic root at largest point measures 4.3.  We will be seeing a pediatric cardiologist next week.  Is there any information or questions I should be asking.  This has all been done in the last 3 weeks and very confused with all that has been thrown our way.  Any help would be apprciated.
Thank you
Jean
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Dear Jean,

I find it interesting that, considering the aortic dilation and the fact that the valve “doesn’t open or shut properly,” your son’s valve is not bicuspid.  It is certainly possible that the valve is “functionally bicuspid”, which means that there is partial fusion of the valve leaflets.  Sometimes, adult cardiologists are not used to looking at the subtleties of the valve morphologies.  Even partially fused leaflets end up acting like fully bicuspid aortic valves.

Overall, we see dilation of the aorta much more frequently and much more significantly in patients with a bicuspid aortic valve, though it can happen with a trileaflet valve.  In bicuspid aortic valve, several things can happen over time.  The valve can become stenotic (obstructed), leaky, or prolapse.  Also, the aorta can dilate.  It sounds like your son will need to have this observed fairly closely, as the aortic dilation is quite significant already.  This can be surgically intervened upon if it gets much bigger.  There is some preliminary research into comparing atenolol versus losartan in the prevention of aortic root dilation in patients with Marfan syndrome through the Pediatric Heart Network (sponsored by the NIH).  Though your son doesn’t have Marfan syndrome, there are some similarities in the aortic dilation that occurs between that and bicuspid aortic valve that may also respond to these medications.  Some years from now, we may see routine use of these medications for the treatment of or prevention of aortic dilation.

Finally, having been former military myself, I do believe that this has good potential to be disqualifying for his entry into the military.
2 Comments
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Thank you for getting back so quickly.  The valve is something that I will discuss with the pediatric cardiologist.  You are right he will never be go into military which was very disappointing to him, but it was a blessing that he went for the medical because his pediatrician never noticed a heart murmur even when we went in for the referral to a specialist which is scary.  The military doctor and the cardiologist both said it was III/IV murmur.  Another thing I would like to mention is that his blood pressure is 110/58 and resting pulse rate is 48.  Thank you again for all your information.

Jean
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A related discussion, My 13 year old son has aortic enlargement was started.
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