She has tetralogy of fallot with pulmonary atresia.
The tetralogy of fallot is easier to deal with than the pulmonary atresia portion.
I wrote this explanation to help our parents understand what the condition is but they found it to be very helpful so I will post it here.
To simplify this as much as possible, I will start by explaining how a normal heart works.
The heart has 2 sides, a right side and and a left side. Each side is also split into 2 chambers so there are 4 total chambers.
The top chambers are the receiving chambers called the atrium. The atria are separated by a small muscle called the interarterial septum.
The lower chambers are the pumping chambers called ventricles and they are separated by a small muscle called the interventricular septum.
There are 5 great vessels that enter and leave the heart: The superior vena cava, the inferior vena cava, the pulmonary artery, the pulmonary vein and the aorta.
Deoxygenated red blood cells from the body flow through the superior and inferior vena cava and enter the right atrium (upper right side).
The blood then flows across the tricuspid valve to the right ventricle (lower right side). The right ventricle then pumps the blood through the pulmonary valve into the pulmonary artery.
The pulmonary artery splits into two vessels and transports the blood into the lungs.
As the blood makes its way through the lungs collecting oxygen, it travels through the pulmonary veins to the left atrium (upper left side.)
The blood drains through the mitral valve into the left ventricle (lower left side) and then pumped through the aortic valve into the aorta which then sends the blood to the various muscles and organs throughout the body.
With Tetralogy of Fallot the orientation of the interventricular septum formed very slightly anterior than it should have which positioned it right in front of the pulmonary artery thus resulting in several defects.
The first defect is a ventricular septal defect. This, very simply is a (large, in our case) hole in the 2 lower chambers of the heart. This allows the oxygenated and deoxygenated blood to mix.
Because of the way the septum is positioned, it causes a narrowing in the pathway from the right ventricle to the pulmonary artery. In our case, we have something known as pulmonary atresia, which means there is a complete obstruction of the pathway and thus no usable pulmonary valve was ever formed.
Due to the placement of the septum the aorta formed slightly to the right and overrides both the left and right ventricles so the level of oxygenated blood traveling through the aorta is decreased.
As a compensatory mechanism, the muscle around the right ventricle thickens over time to help increase blood flow out to the pulmonary artery but since we are dealing with an obstruction and a hole in the heart the blood only flows out into the aorta. Normal tet patients eventually have a right ventricle that is shaped a bit like a boot due to the hypertrophy.
When a baby is in the womb they get all their oxygen from the placenta and their lungs are filled with amniotic fluid. A blood vessel called the ductus arteriosus forms connecting the pulmonary artery to the aorta. The ductus closes on its own several hours (sometimes minutes) to days after birth once the child is breathing normally.
In Zoe's case, because we know about the condition in advance, they are going to give her a compound known as prostaglandin E1 in order to prevent the ductus from closing. The ductus allows oxygen-rich blood from the aorta (or in our case mixed) to mix with oxygen-poor blood from the pulmonary artery (in our case none.) Long term use can put strain on the heart and increase blood pressure in the lung arteries as well as trigger apneas.
Since we cannot keep her on the prostaglandin forever, there are 2 options that they may pursue. The first is a palliative procedure which is a more traditional approach to ToF. This would keep Zoe on the prostaglandin for a few days and then place a (BT) shunt in which I believe will go directly from the aorta to the pulmonary arteries to make sure that the lungs get enough blood flow.
When she is between 3-6 months they will do something known as a complete repair. The complete repair involves patching the ventricular septal defect (hole in the heart) and using a conduit (homograft) valve to replace the one that never formed and connecting it to the right ventricle and the pulmonary artery. An alternative is a transannular patch.
Repeat procedures may occur due to calcification of the graft and/or leaking of the valve as she grows. Unfortunately a homograft cannot grow with her.
My surgeon is not in favor of the palliative procedure. He wants to do the complete repair within days after birth. This would reduce her exposure to anesthesia and only give her one procedure to recover from, less exposure to other drugs etc.
So, the defect is correctable but because she has no pulmonary valve she will need to have either a conduit or a transannular patch used. If its a transannular patch (which can grow with her but is subjected to greater levels of leakage) it will need to be replaced with a (pig) valve at some point, hopefully in 10 years or so and possibly when she is a teenager which will require open heart surgery. If a conduit is used (more likely option) she will need to have it palpated every couple of years as well as replaced every 4-6 years due to calcification and growth but my hospital has a cath lab that can do the replacements there.
I don't think there is much of a chance of her not having the defect. I have had 4 fetal echos so far and I am going for another fetal echo on Tuesday. The findings have all been the same. The heart forms in the first few weeks but unfortunately the defect cannot really be seen until the 20 week scan. Even at the 20 week scan the heart is the size of a chickpea and 80% of cases with this defect are missed until after birth.
There is a lady on this forum who had a home birth and then when the baby was 5 months old and having episodes was told that she needed emergency surgery or she would die. In her case it was just plain tet so the pathway was extremely narrow but not completely blocked off. Pulmonary atresia is unfortunately the most severe variant of the condition.
Once repaired she will be monitored frequently and will need to see a cardiologist every year for the rest of her life, even as an adult but she should be able to run, play and have no real restrictions as a child once everything is repaired.
I know it will be difficult and I am terrified of the surgery. Its a 6-10 hour open heart procedure but my surgeon is extremely skilled and it is one of the top childrens hospitals in the country. They are monitoring me very carefully and everyone involved knows what is going on and is prepared which tremendously increases the probability of a good outcome.
Because all the echos are done in utero it is difficult to know exactly what option the surgeon will choose. Once she is born she will have an echo that will determine what the surgeon believes he is capable of doing to give her the best possible outcome. So far he believes he can do the complete repair in one procedure shortly after birth but that may change once she is born and he gets a really good look. Unfortunately I don't think there is any mistaking the defect
I hope this wasn't too long and boring.
you can also pm me if u just need someone to just sit and listen. And I think its wrong that she was not being supportive and just telling u how it sucks. Keep your head up
