VS: T 98 HR 110 RR 25 BP 87/40 SAT 99%
On physical exam the child appears comfortable and in no distress. Cardiac exam reveals a HARSH systolic ejection murmur over the left sternal boarder. You do not appreciate any active cyanosis. He seems small for his age but you don't see kids on a regular basis, so you quickly reference a pediatric growth chart on the "internets." You note that his height and weight are only in the 10%.
What tests would you like to get?
If the ED land line went down and you only had 5 minutes left on your cell phone call plan who would you call?
If you were stranded on a desert island with this patient and he became more short of breath and turned blue...what would you do?
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Weekend Update:
"Spells" and "blue lips" were the clues to this case, hence the "Blue Valentine" reference.
Tetralogy of Fallot is the most common of the 5 forms of cyanotic congenital heart disease conveniently identified as "THE TERRIBLE T'S":
Tetralogy of Falot
Transposition of the great vessels
Tricuspid atresia
Truncus arteriosis
Total Anomalous Pulmonary Venous return
The majority, which rely upon a PATENT DUCTUS ARTERIOSIS to shunt oxygenated blood to the rest of the body, almost always present in the newborn nursery. This is because the DUCTUS usually begins to close after 10-14 hours of life. Occasionally, in cases of prematurity, hypoxia, acidosis, the DUCTUS remains open for another 2 weeks, delaying the clinical presentation.
Tetralogy of Fallot DOES NOT rely on a PATENT DUCTUS ARTERIOSIS and could therefore present later in life. Tetralogy is know for FOUR (hence the "tetrad") classic findings: 1. Right ventricular outflow obstruction (valvular pulmonic or subpulmonic stenosis). 2. Ventricular septal defect. 3. Aorta which over-rides the right ventricle. 4. Right ventricular hypertrophy. Tetralogy can have quite a bit of phenotypic variability and therefore may not show up until a child is older when more intense stressors trigger increased oxygen demand (like running around grandma's house at full speed.) More severe cases present earlier with cyanosis after feeding or crying (as pictured above and more correctly described by Dr Obetz as "The Kapsner" position. Your best option if alone on an island.)If a child presents blue, in respiratory distress, during the first 2 weeks of life; think "Terrible T's." Apply oxygen and give Prostaglandin E1 (this will help keep the DUCTUS open and allow continued shunting of oxygenated blood to the rest of the system.) Call your pediatric cardiologist to reassure you about giving a medicine that you will never again give during your career; and call your cardiac ultrasonographer to get an ECHO. Additional meds may be indicated but they should be managed by someone who know's what they are doing... ie peds cardiology.
If the child presents pink, in respiratory distress, during the first 2 weeks of life; think other causes of neonatal heart failure: Ventricular or Atrial Septal defects, Coarctation of the Aorta, severe anemia, sepsis, trauma, supraventricular tachycardia, thyrotoxicosis, and my least favorite garbage pail term "metabolic abnormalities".
His story has been told in a wonderful HBO documentary titled: "Something the Lord Made." Or see PBS American Experience Episode: http://www.pbs.org/wgbh/amex/partners/
To read more see: http://pdf.washingtonian.com/pdf/mccabe.pdf
Warren and Joe correctly identified Tom Waits as the creator of "Blue Valentine."
Put some oxygen on him, call a cardiologist and transfer him to another island
ReplyDeleteCardiology consult. EKG, CXR and echo would be nice. Sounds like ASD...concern with his symptoms is that it's high in the atrial septum (associated with anomalous pulmonary venous return).
ReplyDeleteIf on an island, I would have the kid assume the position Dr. Kapsner takes when he wants to feel 'cozy': Holding his knees to his chest. Unlike Dr. Kapsner, however, I would NOT have the kid draw a bubble bath and look up Barbra Streisand on Google images.
ReplyDeleteSounds like a tet spell. I would do everything to keep him comfortable so he doesn't go into another spell. Q2 hugs and get him off the island.
ReplyDeleteDon't know enough peds cardiology, but the murmur sounds loud for ASD in an adult, and would suggest an aortic outflow or mitral valve issue. Exercise induced dyspnea also suggests more than atrial V/Q shunt, but could be wrong. I assume major anatomic abnormality (coarctation etc) would have presented sooner. I would call Children's E.D. and move him from my island to theirs with not much further testing. CXR, EKG, perhaps at WH, but not much more at time of asymptomatic presentation.
ReplyDeleteseems old to just now be getting dx w/ TOF. i always thought of tet spells in early infancy...or maybe that's the never been a good eater thing. ??
ReplyDelete