My 6year old has 2.71cm of aorta sinuses dilation and floppy mitral value and MR.on his last visit doc said to start betablocker.He also said that we can think over it so far i have not started yet.He has seen a genetic to rule out marfan and that time he said acc. to theories he does not have but he was positive if e do gene test he will be positive.all is very scary and confusing??is surgery is the ultimate solution??will he be perfect after surgery??is it possible to get his aorta and mv fixed in one surgery??there r so many ques. rite now popping in my mind......please advice...i'll be really thankfull to u
There are several causes of aortic dilation and mitral valve redundancy (floppiness). The most common are genetic connective tissue diseases, such as Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. He would need to be evaluated by a geneticist, including a family history, complete physical examination, and consideration of appropriate genetic testing. That said, Marfan and Ehlers-Danlos syndrome still can be a clinical diagnosis, which means that the genetic testing can be negative and you can still have their clinical features.
Based on the information that I have, I cannot say what the cause of or the prognosis is for your child's aortic or mitral valve findings. Typically, we do not consider intervention for aortic root dilation unless the diameter is greater than 5.0 cm or if it is growing at least 0.5 cm per year. That said, surgery removes the dilation but does not remove the underlying problem with the connective tissue or with the aorta. Also, we don't intervene on mitral valves unless the mitral regurgitation is moderate to severe with uncontrollable left atrial and/or left ventricular dilation despite medications. Therefore, your son will require continued surveillance with your cardiologist at this point, with routine echocardiography performed as he grows. I also recommend that you discusss your concerns with your cardiologist. If you are not getting the answers or the information that you would like, then I would suggest that you consider a second opinion.
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