You answered my previous inquiry and shortly after that question was answered by you, a doctor's appointment confirmed it. My unborn grandchild has TOF with absent pulmonary Valve. Now they want to test the unborn child for DiGeorge syndrom. None of this looks good. The doctor said not to expect a long life for the child. I want to know, and cant find any information on what I can expect as far as life expectancy of this child with this severe and rare defect. Would you guide me to a website, or share with me any studies you may know about that will give me an idea of what I can expect? My daughter is in complete denial and is holding on to believing this little girl will live a long and productive life. The little I've been able to find on the subject indicates this is not the case. I need to be prepared in order to support my daughter.
Unfortunately, I was afraid of that when reading the description that you gave me. So, now that we know that this is tetralogy of Fallot with absent pulmonary valve, we have to separate out her potential outcome into two different aspects: the heart defect and the possible genetic syndrome. ToF/absent pulmonary valve outcomes are dependent upon several factors. Most importantly, they depend on how dilated the pulmonary arteries are and how much airway obstruction they are causing. Also, there can be significant residual problems with the pulmonary valve and the function of the right ventricle. Sadly, there can be significant early death with these patients. As mentioned in my last posting, surgery involves not only fixing the defect inside the heart, but making the larger pulmonary arteries smaller. Sometimes airway intervention is needed, as well, to improve respiratory status. Not infrequently, these children can have prolonged ventilator courses post-operatively; some even require a tracheostomy. However, as much as 75% of these babies survive their surgical repair. That said, there is a somewhat increased incidence of fetal loss in these babies. Overall, like a lot of the congenital cardiac diagnoses, there is a spectrum of severity, which I can’t determine on your grandchild at this point.
From a genetic standpoint, the most common abnormality seen with ToF/absent pulmonary valve is DiGeorge syndrome, which is from deletion of a fragment of a gene on the long arm (the “q” arm) of the 22nd chromosome; you may see this written as 22q, or del22q11. Other names for this include Shprintzen syndrome, velo-cardio-facial syndrome, and CATCH-22. Approximately 20-25% of babies with ToF/absent valve syndrome have 22q11 deletion, based on the literature that I can find. This syndrome is associated with combinations of many different medical conditions, including developmental delay, mildly decreased immune system function, abnormalities of calcium maintenance, psychiatric disease and other behavioral problems (such as ADHD), cleft palate and swallowing difficulties, some minor facial findings, and, of course, several different types of congenital cardiac defects. Having 22q11 deletion does not guarantee that ALL of these problems will occur. Mostly, these other problems typically don’t adversely affect the cardiac outcomes. The biggest risk factor influencing their survival is probably the cardiac disease, including how severe it is as well as how well it can be palliated. And this goes back to the severity of the defect mentioned above. At a minimum, your grandchild will need lifelong follow-up with a pediatric cardiologist or adult congenital heart disease specialist.
I would say to you that the best approach is to wait and see what happens. I know that this is easy for me to say since it's not my grandchild or my family. As the doctor said above, the severity of the TOF with an absent pulmonary valve is on a spectrum, and you don't know where exactly the child falls on it just yet. I would also say the same of the DiGeorge syndrome too, though I know even less about that. I believe that you are taking the right course of action in hoping for the best and preparing for the worst.
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