Joey's Diagnoses

CHD. d-TGA.  VSD. PS. OHS.  It's been an alphabet soup of sorts!  

I never in a million years thought I would learn so much about the human heart, let alone the fetal heart.  But since that day in November when we got Joey's first diagnosis, Jamie and I have tried our best to learn all that we can so that we can get the most out of our conversations with our doctors and truly understand our son's condition.  Unfortunately, since November we have learned of four different heart defects as well as a possible intestinal issue.  There was a long stretch of time in which each appointment brought more bad news.

Not many people know that heart defects are the most common birth defects.  A Congenital Heart Defect, or CHD, is a heart defect that is present at birth. CHDs effect about 1 in 100 babies born today.  There are approximately 35 different types of congenital heart defects that can combine and manifest into thousands of different situations! Many heart defects don't need treatment or can be fixed quite easily, however there are some that require very invasive treatments and can cause serious health problems or death.

Currently, Joey has been diagnosed with several heart defects which include:

Ventricular Septal Defect

Transposition of the Great Arteries

Pulmonary Stenosis

Retrograde Blood Flow Through The Ductus Arteriosus

And during an MRI at about 24 weeks, they also noted a possible malrotation of the intestines. However, this is something that cannot be officially diagnosed until birth, so it is something that is still on the table, but that we are not currently focused on.  

In case you were curious of Joey's conditions and possible treatments, I thought I would share some of the details and science-y stuff. It is such a miracle that the doctors were able to diagnose so early, but there are also  a lot of things that we will not know until he is born.

Ventricular Septal Defect (VSD)

At our 20 week anatomy scan, the Perinatologist was able to identify a large VSD, or hole in between the heart's ventricles.  The size of his hole was classified as moderate to large and measured about 5mm. 

At this appointment we discussed a lot of possible outcomes of the VSD.  These included the hole possibly closing on its own, being able to live with a hole of a certain size without treatment, invasive surgery and noninvasive surgery. It really all depended on the condition at birth.  But we were also informed that this type of heart defect is sometimes correlated with certain genetic disorders.  We weighed the risks of amniocentesis with the facts that my previous non-invasive prenatal testing showed little to no risk of a genetic disorder and that the baby didn't show any other physical markers of any common genetic disorders. We decided to not go forward with any other genetic testing.  

A week after this diagnosis, we made a follow up appointment with a Pediatric Cardiologist from Children's Hospital Los Angeles and she performed a fetal echo cardiogram.  This is where we first learned that the VSD was not the only thing we had to worry about.  

Transposition of the Great Arteries (TGA)

This is where everything really changed.  The cardiologist performed a very long, silent, ultrasound/echo cardiogram when I was at 21 weeks.  After she was done, she broke the news that she had found the TGA.  She explained it to us by drawing on a diagram.  Basically, TGA involves the two main arteries of the heart, the Aorta and the Pulmonary Artery, being switched and connected to the opposite sides of the heart.  

But all I heard while my head was spinning in that doctor's office was that this was a very serious condition and would require an open heart surgery.  When we returned home, we wanted to educate ourselves even more on this condition.  Of course, the first place we turned to was You Tube! But I found a really great video that explains TGA very well.  I have sent this video to anyone that has wanted to learn more because I think she does a very good job in demonstrating this concept.  

Luckily, neither the VSD or TGA has any effect on Joey while in utero.  However, once born and he takes his first breath, the TGA will basically make it so that he has two separate loops of blood flowing in his body, one oxygenated and one deoxygenated.  

Joey's VSD will actually be a help to him when he is born because there will be some mixing of oxygenated blood. But it will not be enough. This is where the amazing aspects of the fetal heart will come into play.  Everyone is actually born with a small hole between the two atria of the heart and with an extra duct that extends off of the pulmonary artery.  These aspects of the fetal heart are what allow blood and oxygen to flow through the baby's heart while in utero and not breathing air.  Both of these parts of the heart close shortly after birth.  Part of the treatment of TGA is to keep these mixing locations open.  The Ductus Arteriosus is kept open with a medicine called prostaglandin and the hole between the atria of the heart may be kept opened or enlarged by a balloon catheterization procedure called a Septostomy, done shortly after birth.  

Most of the time, the solution to d-TGA is the Arterial Switch Procedure about 3-4 days after birth.  This is an open heart surgery in which the two arteries are cut and switched back to their rightful places and the coronary arteries are attached to the correct vessel as well.  This was the plan that we had for a few months, until a follow up echo cardiogram revealed what we hope are the last two heart defects.  Depending on the severity of one of these defects, and Arterial Switch may not be the way to go.  

Pulmonary Stenosis

At about 30 weeks, we had another echo cardiogram at Children's Hospital LA.  This was another 90 minute ultrasound because the tech was having a hard time figuring out what she was looking for.  She seemed pretty new and both Jamie and I were very frustrated with her bedside manner, which didn't make this appointment any easier.  Once the cardiologist came in she drew on more diagrams to show us what she saw in Joey's heart.  (We have so many heart diagrams with red and blue scribbles all over them, I should start a collage!) She explained that the pulmonary valve had some narrowing.  Now, obviously we will not know the true extent of the stenosis until he has an echo after birth, they can only see so much while in utero. 

This diagnosis could potentially change the treatment/surgery plan we have been preparing for.  My understanding is that because the Arterial Switch Procedure switches the arteries, but not the valves, what is now his pulmonary valve (with the stenosis) will become his "neoaortic" valve.  The aortic valve is the most important valve in the body as it pumps blood from the heart into the body, so if the stenosis is more than minor, it could have a greater effect on the blood flow in his body.  The answer to this may be a different procedure all together that would not involve a switch, but more of a "rerouting" and using a conduit to relieve pulmonary obstruction (Rastelli Procedure) or an aortic translocation (Nikaidoh Procedure).  We REALLY don't have a good grasp on what either of these procedures mean, or do, however, they both would required additional surgeries later in life as he grows as well.  

Our next step is to learn more about the Rastelli and Nikaidoh procedures and know when and why they would use one over the other and when they would use one of those versus doing the Arterial Switch.  There is still a lot of learn! And we definitely won't know which procedure is best until he is born and can be evaluated, but we were also told that the surgeon may make a decision based on what she sees once the open heart surgery begins!  So we wait...

Retrograde Flow in the Ductus Arteriosus

This is really what we know the least about.  The cardiologist doesn't ever seem too worried about it when she mentions it, so I guess we shouldn't worry too much either.  But to have blood flowing in the opposite way through a duct seems weird.  However, this Ductus Arteriosus is the duct that is present in a fetal heart but then closes shortly after birth, so maybe that has something to do with it.  We will keep asking questions.  

Wow! Once I lay it all out like that makes my heart ache for my little man.  The good news is that we have a plan, we trust all of the doctors and other professionals that we are working with  through USC, Huntington Hospital and Children's Hospital Los Angeles and we have come to the realization that will need to wait a couple more weeks to truly know which path to take. Little ones are so resilient and the current surgeries and medicines are so amazing with what they can achieve, our hopes are high for our little heart warrior. Jamie and I will keep you all updated on his condition before and after birth, the plans for surgery and recovery and we just ask that you keep our family in your thoughts and hope for the best.