my almost 10 y.o. just diagnosed with aortic root dilation

[cranioNheartmom]

Hello all,
My son who will be 10 in July and was born with a membranous VSD that was repaired via open heart surgery in June of 2004 had a 2 yr. follow-up this past week and his cardiologist was happy to see how well he was doing,hieght 4'2",weight 53lbs.,B/P 97/66,heart rate 82 and his EKG was great.But during his echo they found he now has a slight aortic root dilation, no valve involvement at this time.
She has ordered a lipid profile for him as his father passed 3 yrs. ago at age 51 due to cardiac issues complicated by high B/P,high cholesterol.She also wants to see him back in 6 months to do another echo.He has no limitations at this time but she did advise my son that he needs to eat better foods(cut down on salt,high fat foods),and stay active.
Is there anything else i should be having my son do or not do?as all I can find on the web relates to either marfans or people who also have valve involvement along with the aortic root dilation.
And are there certain signs and symptoms I should be looking for in my son that i should call his cardiologist and been seen sooner than 6 months.
I am so sorry to make this so long and thanks for any help or info you can send or way.

Martha

[Jeffrey R Boris, M.D.]

Dear Martha,

I am sure that it is worrisome to be told that there’s something new in your son, when all along you thought that everything would be fine from his ventricular septal defect (VSD) surgery on out.  However, this is why we make sure that kids with congenital heart defects undergo routine surveillance, so that we can catch things that we were not expecting.  The good news here is that his aortic root dilation is mild and that his valve is reportedly normal, although I am assuming that this means that the aortic valve is a trileaflet valve and not a bicuspid valve, which is associated with greater risk of problems associated with aortic root dilation.  

Although aortic root dilation is certainly associated with connective tissue diseases, such as Marfan syndrome, and bicuspid aortic valves, we are realizing that there are certain congenital heart defects that are associated with dilation of the aorta, including tetralogy of Fallot, truncus arteriosus, and transposition of the great arteries.  These can occur, even after surgical intervention.  We can also see this after certain other types of heart surgeries, including an operation called the Ross procedure.  The reason for this is not clear, although it may be related in some way to the abnormal processes going on in bicuspid aortic valve or with Marfan syndrome.  At this point, your son will need continued cardiology surveillance, including routine history, examination, and echocardiography to look at the size of the aorta and to assess its growth.  It is not clear whether the medications that are being studied in the prevention of aortic dilation in Marfan syndrome are effective for aortic dilation associated with other clinical syndromes, such as those listed above.  It’s also not clear, if there are no other associated problems, whether the aorta will continue to dilate or whether it will stay the same relative size.  The literature seems to support the notion that the rate of aortic dilation associated with an otherwise normal trileaflet aortic valve without any other heart problems is slower than that of a bicuspid aortic valve.  

I do think that the recommendations that your cardiologist made are more for general cardiac health issues, based on his father’s history.  Reducing cardiac risk factors, such as high cholesterol, high blood pressure, elevated weight, diabetes mellitus, preventing smoking, increasing aerobic exercise, etc., are all important to do, considering that his father died so relatively young.  It would probably be a good idea to get a serum cholesterol level checked at some point, as well, to ensure that there isn’t a familial hyperlipidemia (high cholesterol).  However, at this point, these interventions have not been demonstrated to directly affect aortic root dilation.  For now, although I don’t have all of your son’s information from his evaluation, it sounds as if your cardiologist is doing the right thing.  She informed you about it, she wants to see him back a little sooner than usual to get a sense of how quickly the aortic root is dilating, and she is otherwise letting him be a normal kid.  In this case, our job as cardiologists is to find things BEFORE the parents do.  If we waited for signs and symptoms, it could be years down the road and, potentially, way too late.  Therefore, I don’t believe that you’ll necessarily see anything.  Certainly, the big concern is dissection, or tearing, of the aorta.  The symptoms associated with this would be severe chest pain and a tearing sensation.  However, with only mild dilation, that risk is not significantly elevated over a non-dilated aortic root.

[cranioNheartmom]

Thank you for your quick response,it was very imformative..Eric does have a extensive medical history and I am currently waiting for his genetics doctor at CHOP to schedule a follow-up to look into LDS as a diagnose for him.

Martha