a b s t r a c t

Previously undiagnosed pediatric cardiac disease represents a clinical challenge for the emergency physician. The clinical presentation of these disorders can mimic other conditions of the respiratory, gastrointestinal and neuro- logic systems at a time when the need for early identification and treatment is at a premium. A high index of sus- picion and superb clinical acumen is required to make a Timely diagnosis and initiate Optimal care.

Methods: A retrospective chart review using Explicit criteria and a structured data collection process was per- formed on all children presenting with previously undiagnosed cardiac disease over a five and half year period. Results: Thirty-six patients were identified over a five and a half year period representing one patient per 4838 pediatric ED presentations. A diverse set of chief complaints, triage categories, clinical presentations and diagno- ses were identified. Undiagnosed congenital lesions, acquired cardiac disease, dysrhythmias and infectious dis- eases of the heart were represented. The need for surgical intervention (22%) and mortality (6%) was substantial. Conclusion: In the aggregate, these conditions occur at an important rate and represent a high risk subset of pe- diatric patients presenting to the emergency department. Individually, the conditions occur infrequently and ‘pattern recognition’ may not aid the clinician. Early diagnosis and prompt intervention is important in this population.

(C) 2019

Introduction

Emergency physicians assess pediatric patients for potential cardiac disease on a daily basis in children presenting with chest pain, syncope, shortness of breath, palpitations and other complaints that could be re- lated to the cardiac system [1-3]. Recent data suggest that children are presenting with these symptoms with increasing frequency [4]. Though the prevalence of cardiac disease in these children is low, the morbidity and mortality of those with disease is substantial, and the need for Prompt diagnosis and therapeutic intervention is imperative. Recent data from a large Medical malpractice database demonstrates that missed cardiac disease is one of the highest risk Diagnostic categories in pediatric emergency medicine [5].

Advances in neonatal screening for congenital heart disease over the last 30 years have reduced the number of critical congenital cardiac con- ditions that remain undiagnosed beyond the newborn period [6]. This would be expected to lower the total number of undiagnosed cardiac diseases presenting to the pediatric ED, and change the clinical spec- trum of cases such that acquired cardiac disease would make up a greater proportion of cases. Given the high frequency of complaints re- lated to the chest in children, and the low prevalence of previously un- diagnosed cardiac disease, an elevated index of suspicion and superb

* Corresponding author at: Children’s Hospital of NV at UMC, 800 Hope Place, Las Vegas, NV 89102, United States of America.

E-mail address: [email protected] (J.D. Fisher).

clinical acumen is required to make a timely diagnosis and initiate ap- propriate care. Understanding the clinical spectrum of pediatric cardiac disease is central to this diagnostic process. In order to better define and clinically characterize this population, a retrospective study of all pa- tients with previously undiagnosed cardiac disease presenting to our department was performed.

Methods

All cases of previously undiagnosed cardiac disease presenting be- tween February 2013 and November 2018 were identified through the review of several databases: medical records database search utiliz- ing pertinent ICD9 codes; departmental performance improvement da- tabase; and admission, discharge and transfer logs. These cases were reviewed by trained reviewers (JF, RB) using a standardized form and explicit data extraction criteria. Charts were reviewed for demographic information and details of clinical presentation such as chief complaint, vital signs, triage category, Physical exam findings, laboratory and diag- nostic testing, therapeutic interventions, disposition and outcome. Waiver of informed consent was obtained from our hospital’s IRB. Agreement between reviewers on the details of the chart review was monitored. Patients in whom a prior cardiac diagnosis requiring surgery or ongoing medical therapy, those at high risk of cardiac disease due to known underlying disease (such as Marfan syndrome or rheumatic fever), and patients who died in the Emergency Department, were ex- cluded. Patients were included in the study if the cardiac condition

https://doi.org/10.1016/j.ajem.2019.02.029

0735-6757/(C) 2019

934 J.D. Fisher et al. / American Journal of Emergency Medicine 37 (2019) 933-936

identified in the pediatric emergency department had not been diag- nosed in the past and the patient required one of the following: admis- sion to the pediatric intensive care unit, emergency cardiac medication administration (anti-arrhythmic agents, vasopressors, vasodilators, di- uretics, contractility agents), Vagal maneuvers for the conversion of sup- raventricular tachycardia, cardioversion or defibrillation, pericardiocentis, cardiac catheterization, or cardiac surgery. Since Kawaski disease is frequently mentioned as a common acquired etiol- ogy of cardiac disease in children, a search for this diagnosis was also performed using the methods and database described above. The patient’s final diagnosis was confirmed at follow up with our pediatric cardiology group within six months of discharge from the hospital. The diagnosis of those children who died in the hospital was deter- mined through review of the final pediatric cardiologist consultation prior to death.

Hospital course/outcome

Adenosine Adenosine Adenosine

Epinephrine infusion, transcutaneous pacing None - admit to PICU for telemetry electrical cardioversion

Full recovery Full recovery Full recovery

Coxsackie myocarditis- Full recovery Full recovery

Aberrant coronary right artery on echo; received ablation- full recovery

Full recovery

SCN 5A deletion - full recovery RYR2 gene mutations - defibrillator implanted- full recovery

Full recovery Full recovery

Defibrillator implanted - full recovery

Full recovery Full recovery

Defibrillator implanted- full recovery

Adenosine

None - admit to PICU for telemetry Defibrillation (pre-hospital)

Adenosine

Defibrillation (pre-hospital)

None - Admit to PICU for telemetry

Adenosine

None - admit PICU for telemetry Defibrillation (pre-hospital)

Results

Thirty-six cases were identified representing one case for every 4838 pediatric emergency visits over the study period. Age at presentation ranged from 16 days to 17 years. The chief complaints were varied - chest pain (33%), cardiac or respiratory arrest (14%), palpitations (11%), cough/dyspnea (8%), seizure (8%), and syncope (8%). A sizable subset of cases (47%) were not triaged as Emergency Severity Index class 1 or 2 (resuscitation or emergent). On initial physician evaluation, 64% had no evidence of cardiac or respiratory distress. Arrhythmia was the primary pathophysiology in 42% of cases (Table 1), 7 of which were supraventricular tachycardia, 2 forms of heart block, and 6 ventricular Rhythm disorders. A 10 year old presenting with ventricular tachycardia was successfully cardioverted with electrical cardioversion in the ED. On echocardiogram he was found to have an aberrant right coronary artery and arrhythmogenic foci that ultimately required ablation. A 5 year old with Complete heart block due to Coxsackie myocarditis, suffered an ep- isode of asystole/cardiac arrest in the ED which responded to chest com- pressions and epinephrine infusion, followed by transcutaneous pacing. No cases of supraventricular tachycardia required electrical cardiover- sion as all were converted with adenosine. There were no patients man- aged with vagal maneuvers alone.

Triage category

2

2

3

3

3

2

Mental status

Circ/resp distress

Yes No No Yes No No

ED Intervention

79/40

88/58

87/60

84/45

117/78

110/60

Responds to pain Alert

Alert Alert Alert Alert

122/81

121/85

151/107

2

3

2

Alert Alert GCS = 3

No No Yes

96/68

117/58

121/71

1

2

2

Alert Alert Alert

No Yes No

127/79

128/45

139/91

2

2

2

Alert Alert GCS = 4

No No Yes

WPW - Wolff-Parkinson-White syndrome, SVT - supraventricular tachycardia, Mech - receiving mechanical ventilation.

^a Suffered witnessed, asystolic cardiac arrest in the ED, responded to CPR.

^b Patient found to have aberrant coronary right artery on echo; ultimately treated with ablation.

Structural or congenital heart disease not diagnosed in the perinatal period represented five of the 36 cases (Table 2). All of these patients re- quired Surgical repair. Acquired or infectious etiologies represented 44% of patients, predominantly patients with myocarditis or pericarditis (Table 3). One patient with overt myocarditis, a 6 year old female with chest pain, fever, tachycardia and reduced ejection fraction, also had a stable, wide complex rhythm that was managed with IV fluid boluses in the ED. She ultimately required propranolol in the ICU setting to con- trol rate and made a Complete recovery. The two fatalities were a 14 year old female with myocarditis and markedly depressed left ven- tricular output that progressed to cardiac arrest within 24 h, and a 5 year old male with asthma and previously undiagnosed pulmonary hypertension who suffered right ventricular failure, ventricular fibrilla- tion and cardiac arrest within 72 h of admission. One patient in the ac- quired category suffered a traumatic cardiac injury. Initially presenting as a patient with head injury after a fall involving a television, the pa- tient was discovered on bedside ultrasound to have hemorrhagic tamponade due to Blunt chest injury resulting in a tear to his superior vena cava/ right atrial juncture. Bedside, percutaneous, ultrasound guided aspiration of the tamponade was performed. Overall mortality in the series was 6% (2/36).

Table 1

Arrythmia patients. n = 15.

EKG findings

HR

RR

BP

Poor feeding Seizure

Pallor, vomiting Seizure

Chest pain Palpitations

WPW SVT SVT

Complete heart block First degree heart block-junctional escape Ventricular tachycardia

282

275

224

54

56

222

60

30

32

20

18

18

Palpitation Palpitations

Arrest (prehospital)

Atrial fibrillation/tachycardia long QT syndrome Ventricular fibrillation

149

109

106

15

20

Mech

SVT WPW

Brugada/sinus tachycardia

232

108

133

22

25

20

Palpitations Chest pain Arrest

(pre-hospital)

SVT

Bigeminy

Ventricular torsade (prehospital)

222

76

88

20

14

Mech

A total of eight patients in the cohort required surgical intervention representing 22% of the cohort. Three other patients required placement of an Implantable cardioverter defibrillator. Idiopathic cardiomyopathy, Brugada syndrome, Long QT syndrome, aortic dissection, aortic valve insufficiency, partial anomalous pulmonary venous return, infradiaphragmatic totally anomalous pulmonary venous return (TAPVR) and traumatic cardiac tamponade were also represented in

Age

CC

1 m 23 m

3 y

4 y^a 7 y

10 y^b

10 y

11 y

13 y

13 y

13 y

15 y

Chest pain Syncope Seizure

16 y

16 y

17 y

J.D. Fisher et al. / American Journal of Emergency Medicine 37 (2019) 933-936 935

Table 2

Congenital/structural. n = 5.

Age	Presentation	ESI	CVR distress	HR	RR	Sat	BP	Dx	ED intervention	Hospital course
16 d	Resp failure	1	Yes	119	bvm	70	75/55	Cardiomyopathy/PDA	PGE - PICU admit	Surgical repair- metabolic workup-recovery
1 m	Resp failure	1	Yes	97	bvm	UO	UO	TAPVR (subdiaphragmatic)	PGE - PICU admit	Surgical repair- recovery
12 y	Syncope	3	No	110	22	99	110/80	Partial APVR	None - PICU admit	Surgical repair -recovery
14 ya	Poor feeding, vomiting	3	No	105	16	99	131/68	Severe MR, AI	None - PICU admit	Surgical repair- recovery
16 y	Back pain, chest pain	3	No	58	24	99	148/68	B-type aortic dissection	Nicardipine drip	Surgical repair- progression to A type-recovery

ESI - Emergency Severity Index (triage category). CVR - cardio-respiratory.

AI - aortic valve insufficiency, MR - Mitral regurgitation, Partial APVR - partial anomolous venous return, TAPVR- totally anomolous pulmonary venous return, PGE - prostaglandin E1, UO - unable to obtain.

^a Child had severe autism, non-verbal.

the cohort. During the study period, nineteen children were admitted for the diagnosis of Kawaski disease. None of these patients had evi- dence of clinical or echocardiographic signs of cardiac disease in the ED. One patient had evidence of coronary arteritis on echocardiogram during their hospital stay.

Discussion

Previously undiagnosed pediatric cardiac disease presents to the emergency department at a relatively low rate. We report a case series of 36 children presenting to the ED with cardiac disease that had previ- ously been undiagnosed. This represents approximately one new case per 5000 pediatric ED visits. The cases represent a wide spectrum of in- fectious, congenital, electrophysiologic and structural disorders. The clinical manifestations at presentation are highly varied, as evidenced by triage categories ranging from non-urgent to cardiac arrest and chief complaints involving the neurologic, cardiovascular, respiratory and gastrointestinal systems. Our data demonstrate what makes the emergency physician’s search for previously undiagnosed pediatric car- diac disease in children challenging. In the aggregate, the frequency of undiagnosed cardiac disease in our data set suggests most emergency departments will see such a case every one to two years. The specific

diagnoses, however, are rare and the individual ED physician is unlikely to have clinical exposure to each disorder with much frequency. These factors make clinical ‘pattern recognition’ less likely to be helpful with these presentations. As a result, the risk of diagnostic delay or misdiag- nosis is elevated. Our data suggest that a large subset of these patients will present in a subacute manner given that the majority of the cases were initially assessed as triage category 3. Careful review of each case is therefore essential to maximize the learning opportunity on each unique patient encounter.

Most prior studies on pediatric cardiac disease in the ED have fo- cused on a single chief complaint or clinical presentation such as pa- tients presenting with chest pain, syncope, arrythmia or cardiac arrest. Hurst et al. reported on 26 cases of cardiac disease presenting with syn- cope. Only three patients in their sample were previously undiagnosed cardiac cases, one case of myocarditis and two cases of SVT [2]. Drossner et al. reported on 24 cases of pediatric cardiac disease presenting to the ED with a chief complaint of chest pain [3]. The patients in that study differed from ours in that only 50% of these patients required admission and there were no deaths. Myocarditis, pericarditis, long QT syndrome and myocardial infarction were represented in the sample. Clausen et al. describe 444 children presenting with cardiac arrhythmia to their large children’s hospital in Australia [7]. Nearly 70% of these

Table 3

Acquired/infectious etiology. N = 16.

Age	Presentation	ESI	CVR distress	HR	RR	BP	Mental status	Dx	ED intervention	Hospital course
2 y	Cardiac arrest	1	Yes	123	5	76/38	GCS -3	Myocarditis	Epinephrine- PICU admit	Full recovery
5 ya	(pre-hospital)c Fall, head injury	2	Yes	162	35	92/60	GCS -8	Hemorrhagic tamponade	Bedside, US guided	Thoracotomy - repair of laceration
									pericardiocentesis	at SVC/RA junction - full
										recovery
6 y	Resp distress	2	Yes	127	44	UO	Alert	Pulmonary HTN, asthma	Solumedrol, Albuterol- PICU	Fatality
6 y	Chest painc	2	Yes	141	34	76/48	GCS -14	Myocarditisd	admit IVF, Ceftriaxone - PICU admit	Full recovery
6 y	Back pain	3	No	149	20	95/68	Alert	Pericardial effusion	None - PICU admit	Full recovery
12 y	Chest painc	3	No	110	22	119/81	Alert	influenza A myocarditis	IVF bolus- PICU admit	Full recovery
13 yb	Cough	2	Yes	145	20	101/80	Alert	CHF- MD, OSA	Lasix - PICU admit	Tracheostomy - full recovery
14 y	Dyspnea	2	Yes	140	45	124/74	Alert	Pericardial effusion/CML	Lasix - PICU admit	Pericardial window in OR
14 y	Syncope	3	No	103	20	94/70	GCS-14	Myocarditis	IVF bolus - PICU admit	Fatality
15 y	Chest pain	3	No	71	20	118/66	Alert	Pericarditis	None - PICU admit	Full recovery
15 y	Chest pain	3	No	55	16	113/59	Alert	Myocarditis	IVF bolus - PICU admit	Full recovery
15 y	Chest painc	3	No	105	15	116/68	Alert	Myocarditis	IV Solumedrol - PICU admit	Full recovery
15 y	Feverc	3	Yes	110	20	88/54	Alert	Bacterial endocarditis	IVF, Vancomycin, Ceftriaxone	Full recovery
16 y	Chest pain	3	No	96	16	142/89	Alert	Pericarditis	None - PICU admit	Full recovery
16 y	Chest painc	3	Yes	112	18	87/58	Alert	Myocarditis	IVF - PICU Admit	Full recovery
17 y	Chest pain	3	No	119	20	115/71	Alert	Pericardial effusion	Aspirin - PICU	Pericardial window in OR

ESI - Emergency Severity Index (triage category); CVR distress - cardiac/respiratory distress. AMS - altered mental status; CHF - congestive heart failure; CML - chronic myelogenous leukemia; HTN - hypertension; IVF- intravenous fluids; OSA - obstructive Sleep apnea; MD- muscular dystrophy; UO - unable to obtain.

^a Child brought by EMS for head injury after an unwitnessed fall, altered mental status, initial mechanism of injury uncertain.

^b Child with global development delay and spasticity with cough and irritability.

^c Patients with elevated Troponin levels.

^d Child had an ejection fraction of 40% on echo with Wide complex tachycardia that remained clinically stable with IV fluid administration.

936 J.D. Fisher et al. / American Journal of Emergency Medicine 37 (2019) 933-936

children had prior cardiac diagnoses. One patient in that series required cardioversion, and three others required anti-arrhythmic therapy other than adenosine.

Research on the frequency of congenital heart disease presenting undiagnosed to the ED is limited. Savitsky et al. published their experi- ence with congenital heart disease in the ED over a six year period in Los Angeles. Only 8 previously undiagnosed patients were identified. Condi- tions causing left sided obstruction and left ventricular failure, left to right shunts resulting in volume overload, and a patient with coronary artery aberrancy resulting in myocardial ischemia, were represented [8]. A larger study from the ED at the Seoul National University Hospital in Korea recently reported on 82 cases of previously undiagnosed con- genital heart disease. The distribution of cases was similar to the Los Angeles data though more children with cyanotic presentations were reported. The large majority of their series were referred in from other facilities [9].

Infectious and acquirED diseases of the heart represent a sizable per- centage of our cohort (44%) and accounted for both of our two fatalities. Two other cases in our series that were ultimately diagnosed with myo- carditis suffered cardiac arrests (one pre-hospital) from which they made a full recovery. fulminant myocarditis is the most feared acquired cardiac disease in children. There are several small case series which elucidate the significant pediatric morbidity and mortality associated with this condition [10,11]. Freedman et al. recently reported in a de- tailed fashion on 31 cases of acute myocarditis presenting to their ED and described the frequency of diagnostic abnormalities [12]. Similar to our data, they reported a prevalence of 1 in 5000 ED patients and a mortality of 10%. They also reported a Delay in diagnosis until after ad- mission in 26% of their cohort, demonstrating the subtlety of initial pre- sentation in many of these cases.

Our study is limited by it’s retrospective design. Cases may have been missed by our search methods and this would impact the prevalence and mortality data. Children presenting to the ED in arrest who subsequently died in the ED may have had undiagnosed cardiac disease that was not identified, thus reducing our reported disease prevalence. It is not routine for patients dying in our ED to have post-mortem exams unless there is concern for child abuse or neglect, or if the family requests the exam. Cases such as this are quite rare. Our retrospective design also impacts the accuracy of reported clinical findings. Documentation of clinical find- ings may have been performed after the ED diagnosis was made, falsely elevating the sensitivity of initial clinical assessment.

Conclusion

Previously undiagnosed pediatric cardiac disease presents to the Emergency Department at a low but important rate. Cases present

with a variety of chief complaints and are often triaged as Urgent (ESI Level 3) as opposed to a Resuscitation or Emergent (ESI Level 1 or 2) tri- age categories. In the aggregate, previously undiagnosed cardiac disease is seen at low but significant rate. Individually, many of the cardiac con- ditions that make up this diagnostic category will be seen infrequently and with variable presentations. These cases will require a high degree of clinical suspicion to make a timely diagnosis, with careful attention to clinical detail. early diagnosis and treatment is important given the sub- stantial morbidity and mortality in this population.

Acknowledgements

Dr. Fisher was support in part by a grant from the State of Nevada, Governor’s Office of Science, Innovation and Technology (Round 4).

References

1. Hurst D, Hirsh DA, Oster ME, Ehrlich A, Campbell R, et al. Syncope in the pediatric emergency department - can we predict cardiac disease based on history alone? J Emerg Med 2015;49(1):1-7.
2. Drossner DM, Hirsh DA, Sturn JJ, Mahle WT, Goo DJ, et al. Cardiac disease in pediatric patients presenting to a pediatric ED with chest pain. Am J Emerg Med 2011;29(6): 632-8.
3. Horeczko T, Park JK, Mann C, Milazzo A. Pediatric emergency department study of cardiac risk in the novel patient (PED SCReeN). Pediatr Emerg Care 2017;33:e79-86.
4. Friedman KG, Alexander ME. Chest pain and syncope in children: a practical ap- proach to the diagnosis of cardiac disease. J Pediatr 2013;163(3):896-901.
5. Glerum KM, Selbst SM, Parikh PD, Zonfrillo MR. Pediatric malpractice claims in the emergency department and urgent care settings from 2001 to 2015. Pediatr Emerg Care 2018. https://doi.org/10.1097/PEC.0000000000001602 (published ahead of print- (9/25/18) ISSN 0749-5161).
6. Thangaratinam S, Brown K, Zamaora J, Khan KS, Ewer AK. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet 2012;379:2459-64.
7. Clausen H, Theophilos T, Jackno K, Babl FE. Paediatric arrhythmias in the emergency department. Emerg Med J 2012;29:732-7.
8. Savitsky E, Alejos J, Votey S. Emergency department presentations of pediatric con- genital heart disease. J Emerg Med 2003;24(3):239-45.
9. Lee YS, Baek JS, Kwon S, Kim GB, et al. Pediatric emergency room presentation of congenital heart disease. Korean Circ J 2010;40:36-41.
10. Butts RJ, Boyle RJ, Deshpande SR, Gambetta K, Knecht KR, Prada-Ruiz CA, et al. Char- acteristics of clinically diagnosed Pediatric myocarditis in a contemporary multi- center cohort. Pediatr Cardiol 2017;38:1175-82.
11. Nevet A, Polak T, Dagan O, Waisman Y. Extracorporeal membrane oxygenation as a resuscitation measure in the pediatric emergency department. Isr Med Assoc J 2015 Oct;17(10):639-41.
12. Freedman SB, Haladyn K, Floh A, Kirsh JA, et al. Pediatric myocarditis: emergency de- partment clinical findings and diagnostic evaluation. Pediatrics 2007;120(6): 1278-85.