aortic root dilation

[runnersmom]

My 17 year old son is a 6' 3" elite high school distance runner who runs approximately 60 miles per week. He has been followed by a pediatric cardiologist at Oschner's due to a syncopal episode while running. His last echo showed aortic root dilation of 3.2 cm and mild LVH. There have been no restrictions on his activity, though we have been referred to a geneticist to rule out Marfan or Ehler's Danlos Syndrome. He meets some of the minor criteria, but none of the major other than the aortic root dilation. Is it possible that the dilation is due to his intense training with an original dx of "athletic heart", and not due to a connective tissue disorder, or are most cases related to connective tissue? I've done alot of research and most articles mention connective tissue when discussing root dilation.

[ed34]

Over a three-year period, 2273 competitive athletes were consecutively investigated with transthoracic echocardiography. The traditional parameters, the aortic root dimensions at four levels and the systolic and diastolic flow of aortic valve, were studied with continuous Doppler according to the echo guidelines.
The study protocol included all the non-elite athletes investigated for the first evaluation to obtain eligibility.2273 competitive athletes aged 8–60 years from several sports and regularly trained were evaluated with anamnesis, clinical check-up and echocardiography in order to exclude subjects with systemic or congenital heart disease.
BAV was diagnosed in 58 athletes (2.5%). Of these, nine had normal valvular function, 47 had abnormal valvular function with mild–moderate aortic regurgitation, and two had moderate stenosis. Aortic root dimensions at all levels were significantly greater in athletes with BAV than in athletes with a normal tricuspid valve. No relation was found with age, body surface area, aortic regurgitation or years of training.
Conclusions: BAV is a relatively common congenital cardiac disease in athletes and commonly asymptomatic for a long time. This study suggests the usefulness of evaluating young athletes using echocardiography at least once when they start their sporting activity.

So I think skydnsr is on the right track :)

[skydnsr]

I see that no one has answered you overnight, so perhaps an answer does not jump right out at any of the regular posters on this site.  I have aortic disease myself, but I'm kind of perplexed by your son's situation, myself.  Before poeple here try to respond, could you give us a little more information to, kind of, fill out the picture?  

You say the original diagnosis was athletic heart, but what is the current diagnosis -- or is there one?  Does your son have a bicuspid aortic valve or any other known abnormality of the aortic valve?  What do the doctors believe caused his syncope -- or have they said?  Was the syncope a one-time event that could have been some kind of fluke, or has it been established that it was definintely heart-related?  What was it that caused him to first seek medical attention -- was it the syncope, or was there something else?  Is the 3.2 cm aortic root the only thing about his heart that the doctors could really point to that was unusual or unexpected?

Also, do you know what it is that causes your son's doctors to characterize his aortic root of 3.2 as dilated -- because from what I am aware of personally, 3.2 might be a little on the large side, but for some people it might still be within normal limits.  I haven't ever heard of an aortic root of 3.2cm's being considered an aneurysm.  In other words, is the ascending aorta so much smaller than the root that it is obvious that the 3.2 root is abnormal, or do you even know why they consider it to be significant?  

I'm sorry to answer your question with more questions, but your son's story is a new one to me.  I have had a root aneurysm, and I have never heard of fainting being a symptom of one, especially an early one -- so that is why I am requesting more detail before sharing my thoughts.  I'm going to go out on a limb and say that when syncope associated with a modestly dilated (let's call it that for now) aortic root, then there is something more going on than just that the aortic root is 3.2cm.  Even were your son to be diagnosed with one of the known connective tissue disorders, giving him a label like Marfan's or Ehler-Danlos does not anwser what is going on in his chest, in particular, that caused him to faint.

I do believe that your son has a real asset in having a parent who will seek out all relevant information to try to help him.  You've got me interested, and I hope you will share more.