Case

Hi there, sorry to bother you, but I was wondering if I could curbside you on a case I’m seeing in the urgent care? I have a 2-year old who came in with his parents because he passed out at home. He has been otherwise healthy and was running around at home, chasing his older sibling, when he tripped on the rug and hit his head against the coffee table. Parents were in the other room and heard the thud, heard a loud cry. They ran into the room to find him with his mouth agape but no sound, as though he wanted to cry but couldn’t make the sound. His face turned blue and then he passed out. He remained blue and out for about a minute or two, according to parents. He then woke up and seems to be OK other than being a little tired according to mom. He has a pretty decent sized abrasion on his forehead so I am sending him to the ER for a CT scan. He’s happy and playful again but the passing out and turning blue concerns me. Should I get an echocardiogram or have them meet you in the ER or something?

What am I thinking?

If you have ever seen a child lose consciousness, it can be quite a scene. The vast majority of the time, a syncopal episode in a child can be a benign event but there are a few key findings that can distinguish between a benign situation and a potentially life-threatening one. Hearing a child hitting their head and then finding them on the floor blue is certainly disconcerting for any parent, feels like it lasts forever, and often results in emergent medical follow up. Trying to discern what happened can be difficult when the parent has just gone through a frantic situation. But here is where the astute clinician focuses on gathering all the facts through a very methodical history taking. I often have to redirect parents as they begin to skip over sequences or overestimate the amount of time that passed. Taking a patient and methodical approach to the history of present illness can save a whole lot of worry. Being lucky enough to witness a child breath-holding before passing out nearly cinches the diagnosis.

History and physical

A thorough, detailed, and meticulous history is paramount in all cases of syncope, particularly in the young pediatric patient. In many ways, it can be compared to a crime scene investigation in which details are gathered from all eyewitnesses to put together a reenactment of the event in question. These select details can help guide the clinician in the pursuance of further work-up or recognition of a benign condition. Given the importance of such history-taking, it is imperative that the appropriate time be taken (and allotted) for such an evaluation. Part of the evaluation often involves asking questions repeatedly to get a clear answer as patients and parents will often report the main event skipping over multiple details that can help tease out the differential diagnosis.

First, an understanding of the circumstances of the event can be helpful. Was this a typical day or a special event (i.e., sports practice, race day, etc.)? Where was everyone located and who witnessed the event? What was the environmental climate during the event (i.e., hot day outside vs. indoors)? What was the general feeling of the patient before the event: history of previous illness? Appropriate nutrition and hydration that day and days prior? Overall feeling of health? As in the clinical scenario described in the beginning, was there injury, crying, and/or breath-holding that preceded the event? By setting the scene of the environment, we can better understand what may have led up to the event.

Next, turn to the event itself. What was the patient feeling and how were they acting according to eyewitnesses, minutes to seconds before the event? In patients experiencing arrhythmia, it is often reported that the patient was acting unusually before collapse; this is particularly true with sports participants (i.e., shooting an own goal, running the opposite way, standing in an awkward position). How did the patient collapse: were they able to put their hands out to “catch” their fall or did they collapse without doing so leading to injuries? What does the patient recall about the fall: any prodrome of unusual heartbeats, visual changes, or nausea? Many arrhythmia-related syncope patients have no recollection of the event while those who experience a vagal-related syncope often experience symptoms of lightheadedness, dizziness, and/or tunnel-vision without mention of unusual heartbeats. Interestingly, many patients also report nausea, and sometimes describe themselves as feeling hot (sometimes, cold) all over before the event. The total time that the patient was out is often a source of error, as the event often feels longer than by actual time. It may be helpful to ask the observer to walk through the event in their mind while paying attention to the clock. “Reliving” the event can help get a more accurate timing, potentially leading to what was formerly thought of as minutes to seconds. A description that the event lasted longer more than 5 minutes should be a cause for concern. In general, time slows down for concerned parents and a short event that lasted a few seconds can feel like a long time. That said, most parents of patients with benign syncope feel the event was long but not truly over 5 minutes.

After the patient loses consciousness, key questions for eyewitnesses include: was the patient breathing? How did the patient look (i.e., pale, ashen, blue, diaphoretic)? Was there a pulse noted? Was there any shaking of limbs or eye deviation? Was there any urinary incontinence? Were any resuscitative measures used including the use of an automated external defibrillator? If so, were there any tracings from the defibrillator that could be obtained?

Questioning then leads to how the patient regained consciousness and how they felt. Patients who have undergone a significant arrhythmia may not recall much of what happened before passing out and often awaken to discover that something had happened, but they feel ready to return to their previous activity. Those who have suffered a vagal-related syncope often feel fatigued or worn from their bodies having gone through a fight or flight response. Discuss any significant injuries that the patient experienced after their fall. Patients who were able to catch themselves as they fell usually have scratches and bruises on their extremities. Those with arrhythmia who were unable to brace for a fall may result in significant facial injuries such as a broken nose, chipped teeth, and/or hematoma.

Next, history should then transition to the family. Questions should include any family member that suffered an unexplained death such as an unexplained car accident or drowning. Questions should be asked about family members with unexplained seizures or deaths while playing sports—either in practice or in game. Ask about deaths presumed to be due to heart attack before the age of 50 years, which may be in fact a sign of arrhythmic death. Questions should also touch on possible aborted sudden cardiac arrest that usually manifests as syncope in specific situations. For example, asking about family members that pass out with loud noises (long QT syndrome) or with excitement such as roller coasters or being startled/surprised (catecholaminergic polymorphic ventricular tachycardia). Lastly, use medical and colloquial terms to ask about family history. For example, when asking about a family history of hypertrophic cardiomyopathy, also ask if there are any individuals in the family that has been diagnosed with a very thick or enlarged heart. Sometimes descriptions of the disease can trigger memories or commentary from other family members that may be helpful to explore.

Finally, it is advised to take the time to obtain a social history to determine how comfortable the parents and/or patient is at home. Are there any unusual stressors that are affecting the family? Are there any new members living in the household? An opportunity to identify child or spousal abuse should never be missed.

On physical examination of the child, evaluate for any suggestion of cardiac disease in the form of cyanosis at baseline, heart murmur, or abnormal heart rhythm. In the case of breath-holding spells, the physical exam is most often normal. If seizures are high on the differential diagnosis, evaluation of the neurologic status of the child and stigmata of neurologic disorders should be assessed. Signs of abuse should also be evaluated in physical exam. If any evidence for abuse, consult with a child abuse specialist, social services, and/or child protective services to keep the child safe until a more extensive evaluation of the home situation can be performed. While such measures can be time consuming, they can be life saving and, indeed, life altering.

Diagnostic testing

If the history is highly suggestive of breath-holding spell, there are no additional tests to perform. If there are concerns of an arrhythmia syndrome from history, an electrocardiogram is the next most logical test to obtain. This may involve evaluating electrocardiograms on first-degree relatives as well. Any physical examination findings suggestive of anatomic cardiac disease should be evaluated by an echocardiogram. If seizures are a significant possibility, the usual next step is a consultation with a neurologist and likely an electoencephalogram (EEG) with brain imaging (CT or MRI). In cases of suspected abuse, further tests should be in the direction of a child abuse specialist.

Action plan

For the clinical scenario presented, the child presents with a history consistent with a breath-holding spell. Parents should be educated about breath-holding spells being a very anxiety-provoking but generally benign, condition. There is no specific medical treatment for the breath-holding and most patients will outgrow the condition by the age of 5 years. Supportive care is primarily focused on the education of parents and avoiding injury by asking the parents to place the child on the floor as a preemptive measure during a preceding injury that could result in the spell.

If there are concerns regarding a possible cardiac etiology based on thorough history taking and physical examination findings, consultation with a pediatric cardiologist/electrophysiologist is highly recommended. This will often involve an assessment of all first-degree relatives and an extensive family history as conditions are usually genetically inherited.