Heart

We went to the Pediatric Cardiologist in Syracuse for a fetal echocardiogram, which is basically an ultrasound looking at every angle of the heart to look for defects.  50% of children with Down syndrome have a heart defect.  We were told by the Perinatal specialist that they thought the heart looked good so we were expecting good news.  Unfortunately, that was not the case.

Katie has a hole in her heart between the two ventricles; this condition is called Ventricular Septal Defect or VSD.  This is the most common heart problem with Down syndrome.  Of course, Katie was angled with her back to the ultrasound so the bones of her spine were casting shadows on the heart.  As a result, the doctors are not sure how big the hole is or if it extends in the atria as well.  If the hole is between all four chambers it will then be Atrioventricular Septal Defect or AVSD, which is also common with Down syndrome.  

Obviously the smaller the hole the better the scenario.  However, even in the worst case the doctors can fix it.  If it is AVSD, she may be weak, have some trouble feeding and growing.  At 4-6 months she will have open heart surgery to repair the defect, perhaps even younger if she is struggling.  If it is a moderate or large hole but only in the ventricles (VSD), she will still need open heart surgery at around 6 months.  If it is a small VSD hole, then the doctors will watch closely and hopefully the hole will close on its own.

Both AVSD and VSD surgeries are very successful.  The survival rate is very high 98-99%, and the complication rate is only 1%.  If the surgery goes well, the blood flow will return to normal and she will have no restrictions on her activities.  If she has trouble growing, she should catch up in 1 to 2 years.  The surgery is a lifetime fix and she will not need any additional surgeries later in life.  There is another heart problem with Down syndrome which would have made the VSD situation much worse, and she does NOT have that complication, phew!  

We have an appointment scheduled for a month from now.  Katie will have another fetal echocardiogram and hopefully she will cooperate for the doctors to determine the size of the hole and if it is AVSD or only VSD.  Regardless of the results, Katie and I will be spending a lot of time with the Pediatric Cardiologists throughout her first year of life.

To sum up our feelings Mike and I both felt disappointed but not surprised.  Since this is such a common problem with Down syndrome, if there was going to be any additional complications it would most likely be this.  Mostly we just feel sorry for our little girl.  It will be a difficult start for her and we are sad that she will have to face major surgery at such a young age.  We are feeling amazingly well after this news.  We know there is nothing we can do to fix it and worrying will not help.  We know what we are facing and will trust the doctors to fix it.  God bless the doctors!