I am 18.2wks pregnant and recently, via an echo, found that our baby has aortic dilation. The aortic root/valve and ascending aorta measures 4mm, apparently 3mm is normal. I'm told that this is around the high normal 98th percentile. There appears to be no other problems, markers, or indications. The heart function, valves, and structure also appear normal along with the fetal bones and other anatomy. I did an amniocentesis and that is still pending. The Pediatric Cardiologist seems to just want to watch and wait and my MFM seems to be more concerned with a grim outlook. If amnio comes back negative, they're looking at Marfans syndrome or Ehlers Danlos which are both rare. The only family history we have associated with any type of heart defects or abnormalities is I (maternal side) have a second cousin that had a VSD. He has since passed and would be 60y/o now. Back then, I'm told, they didn't diagnose any syndromes w/ him. What does this mean? Are we looking at multiple problems and heart surgeries? Are we looking at coddling our child to protect them from possible rupture while playing in the yard? We are considering termination of pregnancy...is this extreme? Please help!
First of all, a measurement of only 1 mm different from the norm would not be considered a significant difference and could still be a measurement error. The finding of a dilated aorta in childhood can be seen with: 1) no other structural heart disease 2) a bicuspid (2 leaflet) aortic valve- very common, 3) Marfan or other connective tissue disorder. However, at 18 weeks gestation it is too early to determine if this measurement is really abnormal or not. I agree with the pediatric cardiologoist that, if the remainder of the heart structure and function is grossly normal (we cannot determine if a valve is bicuspid on a fetal echo), then serial follow up to check the aortic size is all that is warranted. It may look normal on follow up! To have aortic dilation as a fetus and not have mitral valve prolapse would be quite unusual with Marfan syndrome, so based on the information that you have provided, that seems much less likely. So follow up with the pediatric cardiologist as planned. It may turn out to be nothing on further measurement.
Thank you for your input :). My amnio did come back negative. So if both Dr's are measuring this as being dilated at 4mm's and if it is in fact dilated and not a measurement error, what are we looking at health wise? Will our child need surgery? Does that mean his aortic wall is thin and has increased chance of rupture? Could the rest of the vessels catch up to the size of the aorta and then the aorta end up a normal size? If it turns out to be bicuspid then he would need a valve replacement I'm sure several times throughout his life right? I know it's difficult to see on echo, but the pediatric cardiologist seemed to think it wasn't bicuspid. What are your thoughts?
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