Pediatric Heart Expert Forum
hole in the heart
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hole in the heart

sir, my son is nine weeks old and is a confirmed down syndrome case. today we got the echo done and the results are as follows.
Systemic veins :  IVC, SVC - RA
Pulmonary veins : 4PVs -  LA
Atria, Ventricles : RA, RV large
IAS :  7 mm, 2 deg ASD, L-R
IVS : intact
MV, AV, Aorta, PA, PDA, TV, PV :  N
Arch : LSAA
CoA : nil
MAPCA's ; nil
Advice:   ACHD 2 deg ASD, No PAH
IE prophylaxis
pepeat 2D echo after 6 months

Could you give me an insight into what it is all about and what is immediately required to be done. thankyou.
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Dear Sbrahms,

I don’t understand all of the abbreviations that you are giving me (even we doctors don’t always understand each other’s writing), but as best as I can tell, your son has a secundum atrial septal defect (ASD) and an otherwise normal heart.  Approximately 33-50% of all children with Trisomy-21 (Down syndrome) have congenital heart defects, of which ASDs are amongst the most common.  This is a hole in the septum (the wall) between the two upper chambers.  It does appear that the right side of the heart is overloaded with the extra blood volume that is returning to the right side of the heart through the ASD from the left side.  However, without seeing your son, I cannot tell you what to do for him at this point.  I do not know if he is symptomatic and what features of his examination may be abnormal.  Typically, we do not like to leave moderate or large defects open in babies with Trisomy-21, as they are at greater risk to develop pulmonary hypertension (high blood pressure across the lungs).  In the case of an ASD, though, it may be able to be observed to see both how he is doing and to see if the defect will become smaller (or even close) over the next few months.  I will say that your cardiologist should be reviewing this information with you in depth, so that you understand what this means for your son.  If you are not getting the information that you need, you should consider a second opinion.
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