Pediatric Heart Expert Forum
is a dilated aorta found in utero a manifestation of marfans?
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is a dilated aorta found in utero a manifestation of marfans?

I am 36 years old and 27 weeks pregnant. My baby was diagnosed with a dilated ascending aorta at 22 weeks gestation. Only the aorta is dilated, the valves, root and walls of the aorta are fine. So is the blood flow. The z score is 2.3 at 22 weeks. (5.3mm).  The widest point of the aorta had grown from 5.3mm to 6.2mm in 5 days.   My partner and I have no sign or immediate history of a connective tissue disorder or BAV. The baby does not have a bicuspid vavle either.  Has anyone evercome across anything like this? My cardiologist siad this is very rare to see in utero.  I have another scan next week to see how much it has grown.  My first baby has down syndrome and a hole in her heart, I have been told that this is no way connected and is most likey a connective tissue disorder of some kind.  we are having a test done on the baby for marfans syndrome but this will take a month for the results and could be inconclusive.  I am so worried and would appreciate any information or knowledge anyone has.


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Dear Missy,

Aortic dilation can be a sign of several different processes.  It can be associated with Marfan syndrome, Ehlers-Danlos syndrome, or Loeys-Dietz syndrome, all of which are connective tissue disorders.  It can be a sign of a bicuspid aortic valve, although you say that the aortic valve is normal.  It can also be seen in patients with certain other cardiac defects (e.g. truncus arteriosus, tetralogy of Fallot); without seeing the fetal echo, I cannot say what the cause of your baby's aortic dilation is.

One thing to keep in mind is that a Z score of +2.3 is just a hair above the normal limits (-2 to +2), so it is something that will need to be observed and correlated with any other clinical findings after the baby is born.  It very well may be that your baby's aorta is just on the top side of normal.
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Jeffrey R Boris, M.D.Blank
The Children’s Hospital of Philadelphia
Philadelphia, PA
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