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Dilated Aortic Root and Cardiomyopathy
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Dilated Aortic Root and Cardiomyopathy

My daughter seems to have gotten a double-whammy where her heart is concerned.  She is in complete congenital heart block and has had a pacemaker since she was about 3 months old.  We were at a routine cardiologist visit the other day and they performed her annual echo.  When the doctor came in afterward, she informed us that the aorta seemed to be large, especially when compared to last year's echo results.  We are being referred to a geneticist to gain a more global view of the problem.

I've been doing some family-history-gathering and have discovered that both my aunt and grandfather have/had a dilated aortic root.  My grandfather passed away in 1957 from cardiac complications and emphysema. On his autopsy report, he was listed as having Marfan-like symptoms.  My aunt is still living and also now has cardiomyopathy and has a defibrillator.  

So I guess my questions are: 1) Since the dilation seems to be inherited, is my daughter (who will be 5 in January) also likely to develop cardiomyopathy?  2)How are cardiomyopathy and the dilation related?  3) What is the treatment (beyond a wait-and-see approach) should the dilation enlarge too much?

Thanks so much!
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Dear Missy,

It definitely does seem like your daughter has had some unfortunate things happen to her heart that also may be, in some part, familial.  The good thing, though, is that she lives 50 years after your grandfather, where there is much better ability to monitor and to treat these issues.  Let’s address these separately:

The first is her complete congenital heart block.  This can be due to maternal antibodies that pass across the placenta and destroy the atrioventricular node, the single wire that connects the electrical system between the top and the bottom of the heart.  It can also be associated with certain structural defects or infections.  As best as we can tell, this can be treated with a pacemaker with minimal problems.  The one thing that we have started to see over time is the concept of “single-site” pacing (usually the ventricular lead of the pacemaker is on a single location in the right ventricle) leading to incompletely coordinated squeeze of the ventricle which over time may lead to a dilated cardiomyopathy.  This is not common, though, but does require monitoring.  It can often be repaired with bi-ventricular pacing.

The second issue is the aortic dilation.  This is classically seen in one of several conditions.  As you mention, it is seen in connective tissue diseases, such as Marfan syndrome or Ehlers-Danlos syndrome.  These are genetic disorders that are associated with other findings outside the heart, and I agree with her being seen by a geneticist to rule these out.  Another condition is called bicuspid aortic valve, about which I have written on this forum several times.  This is when the aortic valve, which normally has 3 leaflets, has only two (or does have 3, but 2 are stuck together).  It is associated with aortic valve obstruction or leakage that can be progressive, and can also be associated with aortic dilation.  This should have been able to be diagnosed by your cardiologist.  Also, certain congenital heart defects can have aortic root dilation, but since you don’t mention this, I will presume that your daughter’s heart is otherwise normal.  Neither the connective tissue diseases nor bicuspid aortic valve are directly associated with cardiomyopathies.

The third issue is the family history.  Your grandfather certainly may have had Marfan syndrome, but also may have had a “marfanoid” habitus, which means that he was tall and slim with long arms, and maybe even long fingers.  However, I would expect that the next 2 generations would demonstrate Marfan syndrome features, as well.  Marfanoid habitus has not been demonstrated to be associated with aortic root dilation.  Your aunt’s cardiomyopathy is difficult to comment on.  If it is a genetic cardiomyopathy, I would expect it to be manifest in your parent who is your aunt’s sibling (your father or your mother), and maybe even you before I would be concerned about it in your daughter.  The most likely explanation of her cardiomyopathy, just because of her age, is regular old coronary artery disease with ischemic cardiomyopathy; this is not inherited.  I certainly can’t say, though, because I don’t have enough information about her.  If there is a specific concern about a genetic cardiomyopathy by your aunt’s cardiologist, there is genetic testing available for certain kinds of cardiomyopathies.  It would then make most sense for your aunt to be tested first, with subsequent specific gene testing in her first-degree relatives (siblings, parents, and children).  If these are positive in your parent who is her first-degree relative, then you could get tested, etc.  Anywhere in the chain that the testing is negative means that you don’t have to worry about the next person in line getting tested.
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Jeffrey R Boris, M.D.Blank
The Children’s Hospital of Philadelphia
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