PEMPix is the American Academy of Pediatrics Section on Emergency Medicine’s annual visual diagnosis competition. This year, in addition to the 10 finalists I will be presenting at the National Conference and Exhibition I will be sharing four cases online in advance of the conference. This is the last of the four cases.

This case was submitted by…

Dr. Walker was assisted on presenting this case by Daisy Ciener, MD, MS and Tucker Anderson, MD, both Pediatric Emergency Medicine Attendings at Vanderbilt

A 3-month-old immunized female, born at 38 weeks with no complications, presents with two days of poor feeding. She started with some noisy breathing and congestion about five days prior to presentation. She was evaluated by the pediatrician at that time and noted to be feeding well, in no respiratory distress, and sent home with reassurance. Prior to this illness, she had been growing and feeding well. She continued to have congestion which progressed to multiple episodes of non-bloody, non-bilious emesis for about three days prior to presentation. She had not had fever. The day prior to presentation she only had two to three wet diapers.

She was initially seen in a community Emergency Department and a chest X-Ray was obtained.

Do to respiratory distress she was started on high flow nasal cannula and transferred to the regional quaternary children’s hospital. Her exam was notable for a well-developed infant in moderate respiratory distress with subcostal and intercostal retractions. No wheezes, rales or crackles were auscultated. Her cardiac exam revealed no murmurs or rubs but did have a positive gallop. She had 2+ brachial and 2+ femoral pulses bilaterally. Her initial vitals were a blood pressure of 97/75, temperature of 37.6C, pulse of 184, respiratory rate of 42, and 98% on 21% FiO2 and 14L of flow. An EKG was then obtained:

Subsequently she had an echocardiogram, a clip of which is shown below:

A. Coarctation of the Aorta

B. Dilated Cardiomyopathy

C. Primary Pulmonary Hypertension

D. Pompe Disease

E. Tetralogy of Fallot

B. Dilated Cardiomyopathy

This child was diagnosed with dilated cardiomyopathy. It was presumed she had dilated cardiomyopathy secondary to a viral syndrome as the child was found to be rhinovirus/enterovirus positive on admission. Her initial echocardiogram was notable for mild to moderately depressed right ventricular wall motion and a severely dilated left ventricle that displaced the right ventricle past the sector width. It noted the ejection fraction to be 13-14% with left ventricular global longitudinal strain. There also was moderate to severe mitral valve insufficiency and moderate left atrial enlargement. The patient was admitted to the pediatric cardiac intensive care unit and started on a milrinone infusion. She has failed wean trials and is currently listed for heart transplant.

Why wasn’t it?

Coarctation of the Aorta

This was the initial leading diagnosis as this can be missed on congenital heart screen. It has been showed to be diagnosed on less than 1/3 of fetal echocardiographs. It can present as new onset heart failure, supine arm and leg blood pressure gradients, left ventricular hypertrophy, and rarely, cardiomyopathy. However, given her normal femoral pulses on exam this made the diagnosis less likely. (Dijkema et al., 2017)

Primary Pulmonary Hypertension

This diagnosis is less likely as this typically does not have bilateral ventricular dilation as seen on echocardiogram. The EKG demonstrated left ventricular hypertrophy as chronic pulmonary hypertension likely would cause more isolated right ventricular hypertrophy. This patient also would have likely required significantly higher FiO2.

Pompe Disease

This glycogen storage disorder presents as dilated cardiomyopathy in the first few months of life. Median onset of symptoms can occur between one and two months of life. Patients will present with failure to thrive, hypotonia, recurrent infections, and poor movement. While the CXR and EKG could be consistent with this diagnosis, this patient was an otherwise well developing child with no growth or infection issues making this diagnosis less likely. (van der Ploeg & Reuser, 2008)

Tetralogy of Fallot

This diagnosis is classically thought of with having a large “boot shaped” cardiac shadow on chest xray. This congenital heart disease will generally present in the first couple of weeks of life and lead to cyanosis and failure to thrive. It is also generally found on fetal echocardiographs as well. (Apitz et al., n.d.)

References

Apitz, C., Webb, G. D., & Redington, A. N. (n.d.). Seminar Tetralogy of Fallot. The Lancet, 374, 1462–1471. https://doi.org/10.1016/S0140

Dijkema, E. J., Leiner, T., & Grotenhuis, H. B. (2017). Diagnosis, imaging and clinical management of aortic coarctation. In Heart (Vol. 103, Issue 15, pp. 1148–1155). BMJ Publishing Group. https://doi.org/10.1136/heartjnl-2017-311173

van der Ploeg, A. T., & Reuser, A. J. (2008). Pompe’s disease. In The Lancet (Vol. 372, Issue 9646, pp. 1342–1353). Elsevier B.V. https://doi.org/10.1016/S0140-6736(08)61555-X