On the podcast Best Case Ever 47 [link to shownotes and podcast] pediatric cardiologist and pediatric emergency medicine specialist Dr. Gary Joubert presents his best case ever.
See also the following resources from the shownotes above:
FOAMed Resources on Cyanotic Infant Tet spells
First10EM on Tet spells
Life in the Fat Lane on Tet spells
All that follows except comments in brackets are from Dr. Joubert:
I’m going to reflect back on the case that occurred early in my career. It was a four-month-old female who presented to the emergency department and who had been thriving. The presenting complaint was my baby looks blue in the lips at times.
The sats were 98% and the respiratory rate was 30 and no abnormal respiratory effort and the pulse was 140.
What’s the differential diagnosis?
Well there was no correlation with feeding so maybe it was just some physiologic thing.
Was it central cyanosis or peripheral cyanosis?
Central cyanosis would be involving the lips and tongue and mucous membranes of the mouth while peripheral cyanosis would be perioral.
Could it be GERD? Maybe it was congenital heart disease. Maybe the mother was just imagining things.
The patient’s family physician thought that the diagnosis was just worried mom.
The patient’s physical examination was very normal.
But just by chance with the child hooked to an oximeter during the physical examination, the sats dropped to 88%. And of course we look to ensure that it wasn’t a monitor fault know that it wasn’t that. It lasted probably for three or 4 min. and we administered some oxygen and in the oxygen seem to make things a little bit better. And the sats came up. Chest x-ray was done and it appeared okay. The heart was the normal size and the aortic arch was on the left side and and pulmonary vasculature appeared to be reasonable. No chamber enlargement that we could see chest x-ray. The EKG looked very normal for age.
Because the child’s sats return to normal we didn’t do a hyper oxygen test. But we were concerned about this history and had the child admitted to hospital. The child had three more desaturation spells associated with their stay and one lasted for quite a long time. So they decided to move the child to the intensive care unit.
[Dr. Joubert again examined the patient in the ICU as he was on cardiology (dual appointment in EM and Peds Cardiology) that week]
And the patient had good bounding pulses and we said, well, we really don’t have a good cause for this.
[So what could it be four-month-old with intermittent blue spells? Dr. Joubert asks.And Dr. Hellman the moderator of BCE and emergency medicine cases suggests a Tet spell. And Dr. Joubert states yes this was a classic example of a Tet spell.]
The actual anatomy on cardiac Echo demonstrated a child who had pulmonary atresia with the patent ductus arteriosus and an ASD. So what they were doing was they were shunting across the patent ductus. Because the child is older now the duct was intermittently starting to close. And as the duct closed the child got quite cyanotic because all the blood was coming across the tetralogy and VSD [?] and ASD. So it was an unusual form of Tet spell. And had that mother not brought the child in when she did that child would’ve gone on to die during one of those spells when the duct closed because there would’ve been no blood flow other than the mixing at the atrial and ventricular level that would and the patient had no blood flow through the pulmonary circuit.
[So Dr. Hellman asks, what can you tell us so that we emergency physicians don’t miss this diagnosis? Dr. Joubert says that it is unusual because it is a late presentation.]
[I] want to stress that when you get these at children with a history of intermittent blue spells that we all see around three or four months of age and that we like to attribute to GERD or sometimes they get admitted with a query apneic spell (they weren’t apneic but we don’t know what else to put on the admitting diagnosis):
The first point is with a history of intermittent blue spells even at this age is to think cardiac disease.
[Which means even with a vague history of ALTE or cyanosis in a baby who appears to be thriving: think cardiac, think metabolic, and admit and evaluate for all the potential causes of ALTE. The cardiac evaluation would include an EKG, echo, arrythmia monitoring in addition to the chest x-ray.]
And the second point is that when you have a child like this [when the emergency physician (or primary care physician in the very near future)has patient like this] this is a perfect opportunity to do a polkas echo exam. And if you done a polkas exam you would’ve seen the big VSD and a really diminutive RV and you might or might not have seen a pulmonary artery the that was diminished. You would not seen the pulmonary valve.
So just because because they’re out of that classic neonatal age range, don’t say – this can’t be cardiac anymore when they turn blue because it they can.
So when you see a child like this don’t automatically attributed to a noncardiac cause because they are outside of the usual age range for cardiac cause.