Tetralogy of Fallot

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Okay, let's move into the topic for today, which is Tetralogy of Fallot.

Okay.

So this is a pediatric condition, and it is a cyanotic congenital heart disease condition that is characterized by four key defects.

And I want you to be visualizing Two things while I talk through this.

I want you to be thinking about normal cardiac physiology and what should be happening, but layered on top of that, think about what is happening because of that big ventricular septal defect, okay? So...

When we have these four defects of Tetralogy of Fallot, they're going to allow oxygen-poor blood to be pumped out into systemic circulation, and this leads to a hypersionotic spell or a hypersionotic episode called a Tet spell, okay? I think everybody's got that.

So this occurs due to a reduction in pulmonary blood flow, meaning there's not as much blood being sent into the pulmonary vasculature.

So, you know, the classic teaching is that you're not going to hear a VSD murmur at that age, but not all patients are classic.

And so I think you can sometimes, you know, get a VSD murmur, especially if the VSD is associated with some sort of outflow tract obstructions, you know, such as a, you know, a Tet, you know, babies with Tetralogy of Fallot are going to have murmurs, you know, if there's some significant right ventricular outflow tract obstruction, and it's not the VSD you're necessarily hearing, but So those are the big ones that you had mentioned there.

I think we had mentioned AS and PS, but mitral regurgitation and tricuspid regurgitation definitely can cause murmurs at that time frame, especially if there's been some resuscitation.

I have found that if an infant came out and needed... need to be resuscitated, even compressions and things like that.

But yes, there are certainly other reasons.

So not to go over all of them, but some of the more common ones would be first degree relative with congenital heart defect.

So if mom had Tetralogy of Fallot or dad, you know, had a coarctation, that's a reason for a fetal echo.

Certain autoimmune diseases, if the antibodies are the dangerous ones, we'll do an echo for that, looking not really for structural heart disease, but looking for conduction abnormalities, exposures to certain medications.

I have a son who's 36 years old.

His name is Danny and he has Down syndrome and was also born with congenital heart disease and his condition is called Tetralogy of Fallot.

So he's got some complex medical issues.

But back when I was in my 20s and getting married and wanting to start a family with my new husband, we wanted four children.

Why can't we keep them on the ventilator a couple of days and see how they do? And so I got interested in palliative care from that aspect.

Also, when my son was two and a half, he had, like I said, he had congenital heart disease, so he needed a correction.

of that Tetralogy of Fallot.

And so he had heart surgery when he was two and a half.

We are talking, we're going to pick up where we left off with cardiac disorders of children, and we're going to talk about the conditions that, defects in the heart that increase pulmonary blood flow.

We went over our last podcast, we talked about Tetralogy of Fallot, and we also talked about co-arction of the aorta.

And those were both defects that increased blood flow.

Now we're talking about the ones that increased blood flow.

Our patent ductus arteriosus is that continuous machine-like murmur that shows up often on NCLEX.

Then our coarctation of the aorta, we could expect to hear a soft to moderately loud systolic murmur.

And then for tetralogy of fallot, we're looking at a loud, harsh murmur, which if you think about tetralogy of fallot and the fact that there are There's a ventricle defect happening there, a septal defect in the ventricles, not necessarily in the atrial.

It's probably going to be a lot louder and harsher.

Yeah, we do.

Yeah, currently now we're analyzing the Fallot cohort and we try to publish this paper as soon as possible.

More to come.

More exciting work to come.

A more normal person would have said to the peds resident, hey, I just saw this baby turn blue.

And she even says to Burke later, this baby had a TED episode, and we'll explain what Tetralogy of Fallot is.

But had you gone to the peds resident and said, hey, I saw this baby turn blue, they might have a cyanotic heart disease, peds resident probably would have been like, oh, okay, well, we'll order an ultrasound.

That's a very, very easy test to do.

But we'll never know.

There's a good chance it was.

And should we end? Let's end with like one final medical thing, because the thing the baby had, that was actually the only real piece of medicine we can really dig or straight into is baby had Tetralogy of Fallot, which is actually the correct diagnosis.

Meredith saw a baby turn blue because deoxygenated blood was going from the right side of the heart to the left side of the heart.

Um, yeah, the Ford Infarct, the Nissan Nystagmus.

The Toyota Tetralogy.

[laughs]

Tetralogy of Fallot.

The Tetralogy of Fallot.

The Toyota Tetralogy.

Wow, dude.

That's pretty good.

So when you see a baby with truncus, you should also be thinking about the other features of DeGeorge syndrome, and they can be remembered by the acronym CATCH-22.

C for cardiac abnormalities, including chronotruncal defects, being truncus arteriosus, as well as Tetralogy of Fallot.

A for abnormal faces, they have a characteristic look about them.

T for thymic aplasia, and T cells sit in your thymus, so you need to worry about immunological problems.

Essentially, infants with DeDordt syndrome and a poorly active or absent thymus have significant T-cell deficiency that may require specially selected blood products, including irradiated blood products.

Definitive repair is performed in the early neonatal period, often within the first few weeks of life, before irreversible pulmonary vascular disease develops.

This is in contrast with lesions such as an isolated VSD or Tetralogy of Fallot, which we try to get the kids a bit older.

They're a few months old at the time of repair.

particularly left-sided obstructive lesions such as aortic stenosis or coarctation, where it can be closer to 10%.

The risk is much higher, around 50%, when the heart defect is part of an autosomal dominant syndrome such as the P二十二Q十一 deletion syndrome, sometimes associated with tetralogy of Fallot, Holt-Oram syndrome, Noonan syndrome, or Marfan syndrome.

So genetic counseling should be offered before pregnancy, and in some cases, genetic testing.

During pregnancy, every woman with congenital heart disease should be offered a detailed fetal echocardiogram, usually at eighteen to twenty-two weeks by an experienced fetal cardiologist so that any defect in the baby can be identified and delivery planned accordingly.

Explore Dr. Thirunavukkarasu's books at cardiologybooks.com, including Differential Diagnosis in Cardiology with one thousand eight hundred cases, Cardiology Cases That Teach with seventy international case studies, and Cardiology Quick Notes for Non-Cardiologists.

Find his books at cardiologybooks.com and through our partner sites academyofelitedoctors.com, cardiologycourse.com, and worldelitedoctors.com. And now back to Dr. Thirunavukkarasu.

Dr. Thirunavukkarasu, what about women with repaired Tetralogy of Fallot?

Tetralogy of Fallot is the most common cyanotic congenital heart defect, and most women today have had complete repair in childhood.