Dilated aorta with pectus excavatum history, 25 years old

[ews35]

I am 25 years old and have suffered from fairly severe pectus excavatum (for which I have undergone corrective surgeries with limited success).  I also have joints that are unusually flexible.  I do not, however, have any of the other visible physical manifestations associated with Marfan's Syndrome and have never been diagnosed with it.

A recent CT showed an aortic dilation of 4.1 cm.  I had an echo a while back and do not recall them mentioning anything about my aorta, but I know that there were no mitral valve problems -- there was some slight regurgitation, which I gather is normal.  I have regular chest pain but have always assumed it is usually or always musculoskeletal, since I have had musculoskeletal pain in my chest since I was a small child.  Occasionally I have sharp pain that feels like it is happening somewhere around my left lung; this pain keeps me from breathing deeply goes away after a couple seconds.

I am a former smoker and am not a cocaine user.  I do have high blood pressure - usually in the 145/95 range.  This is consistent with family history.  

I am planning to schedule a follow-up consultation with a cardiologist to figure out where to go from here.  What, specifically, should I be concerned about?  What should I ask the cardiologist?  I am surprised about this aorta news and feel like I don't really understand what's going on and how I should approach it.

[Lee Kirksey, MD]

You should review the report of previous studies to see if aortic diameter was seen. The most important issue is tight blood pressure control. Follow up with your cardiologist to assess the degree of mitral and aortic regurg and chamber size. Good luck

[Mel58]

I have a connective tissue disorder called ehlers danlos. I also have a "carry over" of Marfans.  I am not tall- only 5' 4".  Pectus excavatum  and aortic root dilation are common connective tissue disorders. I see the geneticist at the NIH in Baltimore Md. She is currently doing a study on the connective tissue disorders. I am not a professional but I have done a lot of research on this topic. I will be glad to give you support group info that I use.  The geneticist use your most striking symptoms for a diagnosis but you can still have a carryover of Marfans with just a few symptoms. There are 6 types of EDS, Marfans, and Stickler. A geneticist would label you with one disorder and possibly with carryovers of the others.  You could have the label of classic EDS with a carryover of Marfans like me. This would be crucial for your local Dr to know. If he sees "Marfans" on your paperwork then you would need your heart rechecked every 6 months. Mine went from 3.6 to 3.7 in 6 months. Then to 3.8 in 6 more months. Then to 3.9 in 6 more months.  I am currently waiting the last check. I am to see a heart surgeon recommended by the geneticist at 4.0.  They are not going to let me wait past 4.0. Dilation can happen much quicker if you have connective tissue problems.

[star26]

A related discussion, dilated cardiomyopathy was started.