Approximately 1% of live-born infants have congenital heart disease. Neonates with critical disease are symptomatic and identified shortly after birth. However, less critical patients are often not diagnosed until after they leave the hospital and present to the emergency department. There are a great number of congenital cardiac disorders and defects, and it is neither likely nor necessary for the emergency physician to have a rote memory of all. The emergency physician should be familiar with the basic patterns of pathophysiology possible with congenital cardiac conditions, and the physical, laboratory, and radiologic findings one might expect with each.
More severe manifestations of severe congenital cardiac defects present earlier in infancy. Severe congenital heart disease often presents at or shortly after birth with neonatal distress, cyanosis or heart failure, and respiratory failure. During the neonatorum and early infancy, cyanosis, apparent life-threatening events (ALTEs), failure to thrive, or distress with feedings, and respiratory failure are common presentations of congenital heart disease.
Congestive heart failure in infants may present with seemingly primary pulmonary symptoms such as cyanosis, tachypnea, hyperpnea, and wheezing, and such presentations in young infants should raise a suspicion for potential of congenital heart disease. Volume overload in infants often presents with wheezing in contrast to rales as a primary physical finding; however, absence of rales or a murmur on physical examination does not rule out significant cardiac pathology.
Congenital disorders may have right-to-left or left-to-right shunting. Classically, one might expect a patient with right-to-left shunting to present with cyanosis as a predominant symptom and similarly for a patient with left-to-right shunting to present with congestive heart failure. The hyperoxia test is a classically taught exercise that may help to discriminate pulmonary cyanosis from cardiac cyanosis. When confronted with a patient with significant cyanosis, application of 100% oxygen therapy may resolve the cyanosis, which increases the likelihood that the systemic deoxygenation is due to a primary pulmonary issue. If application of 100% oxygen des not improve the cyanosis, a cardiac cause for the cyanotic disorder is more likely. However, there is considerable overlap that is possible in presenting symptoms, and conditions such as anemia may blunt the appearance of cyanosis.
In addition to shunting, congenital cardiac conditions present with ductal-dependent or ductal-independent blood flow to the pulmonary or systemic circulation. Ductal-dependent lesions commonly present with acute deterioration at the expected time of the closing of the ductus arteriosus. Examples of the classification are listed in Table 35–2.
Table 35–2.Classification of ductal-related congenital heart disease. |Favorite Table|Download (.pdf) Table 35–2. Classification of ductal-related congenital heart disease.
|Ductal-independent mixing lesions || |
D transposition of the great vessels
Total anomalous pulmonary venous return
|Ductal-dependent pulmonary blood flow || |
Tetralogy of Fallot with pulmonary atresia
Critical pulmonary stenosis
|Ductal-dependent systemic blood flow || |
Hypoplastic left heart syndrome
Interrupted aortic arch
Critical aortic coarctation
Critical aortic stenosis
TVA with transposition
For patients presenting with potential congenital cardiac disease, a full history and physical examination are the most important portions of the evaluation. Careful attention should be paid to determine the details of the patient’s breathing and feeding behaviors. Complete vital signs should be obtained, including blood pressures in all extremities, as well as central and peripheral perfusion. Blood work should be obtained including CBC, complete metabolic panels, urine and blood cultures, as well as potentially troponin and BNP studies. Respiratory viral panels may be obtained to determine if intercurrent infectious illness is contributing to a decompensation of a previously compensated congenital heart condition.
Chest x-ray should be obtained and evaluated for signs of volume overload and cardiomegaly. Chest radiography should be interpreted with caution, as the cardiothymic silhouette in infants may mimic cardiomegaly, and volume overload and bronchiolitic lung markings can appear remarkably similar. In suspected cases of congenital heart disease, noninvasive 2D echocardiography is invaluable and the most accessible means to determine cardiac structure and function. If available, echocardiography should be obtained emergently in consultation with a pediatric cardiologist. After being stabilized, the patient with congenital heart disorder may need to undergo more advanced diagnostic studies such as cardiac catheterization or magnetic resonance imaging (MRI).
Decompensated patients with congenital heart disorders require emergent stabilization in the emergency department contemporaneously with diagnostic evaluation. Cyanotic patients in extremis should receive oxygen, however patients not acutely decompensated with known standing congenital defects may be adversely affected by excess administration of oxygen. Patients with known cardiac defects who are at or near their baseline oxygenation status and not in extremis should not receive oxygen in excess of their baseline requirements.
The classic cyanotic crisis of tetralogy of Fallot provides a window into the treatment of cyanotic heart disease. Patients with a “tet spell” have an acute cyanotic crisis that often they are able to “break” on their own. In the emergency department, patients with refractory tet spells may initially be approached gently by medical professionals. Patients may be encouraged to stay in their caregiver’s arms. Blow-by oxygen may be administered, and if the cyanosis does not improve, morphine may be administered subcutaneously. In rare cases of completely refractory tet spells, it may be necessary to obtain IV access and use of agents that increase the systemic vascular resistance and decrease the right-to-left shunting, such as phenylephrine, may be indicated.
Patients with congestive heart failure may require aggressive ventilatory support, such as high-flow nasal oxygen, bubble CPAP, and ultimately endotracheal intubation. Patients with cyanosis secondary to severe right-to-left shunting may not have resolution of the cyanosis with endotracheal intubation. Ductal-dependent lesions often present with decompensation early after birth at the time of closure of the ductus, and stabilization of the open ductus may improve the patient’s clinical condition. In decompensated patients with suspected congenital heart defects in the first week of life that may be ductal dependent, rapid administration of prostaglandin E1 (PGE1) may be lifesaving, and the PGE1 drip may act to stabilize the ductus until surgical palliation may be achieved. PGE can be administered at 0.05-0.1 mcg/kg/min IV. Most common side effect of PGE is apnea, which may necessitate endotracheal intubation and mechanical ventilation.
In patients with decompensated congenital heart disease, early involvement of neonatal and pediatric intensive care physician as well as pediatric cardiologist are essential to guide treatment. In community centers, stabilization should be followed by rapid transport to a pediatric specialty hospital.
Endocarditis, inflammation of the heart lining and valves, usually arises from tissue insult, whether from turbulent flow, direct trauma, or other process that leads to formation of a sterile thrombus. It is this clot that becomes colonized with bacteria, causing fibrin and platelet deposition and leading to vegetation growth.
Infective endocarditis (IE) most commonly presents in patients with structural heart disease, indwelling devices, or a history of injection drug use. Diabetes, kidney disease, congenital heart disease, and recent instrumentation are additional risk factors for IE.
IE should be considered in a patient with unexplained fever or signs of unexplained systemic illness such as night sweats. A thorough evaluation consists of a careful history, examination of skin, mucous membranes and extremities, and thorough cardiac auscultation.
Modified Duke criteria remain the diagnostic criteria of choice for suspected IE. Two major criteria are needed to diagnose IE, and the combination of one major and three minor criteria, or five minor criteria (Table 35–3).
Table 35–3.Duke criteria for infective endocarditis. |Favorite Table|Download (.pdf) Table 35–3. Duke criteria for infective endocarditis.
|Major Criteria |
|Two blood cultures positive for infective endocarditis drawn > 12 h apart |
Viridans streptococci, Streptococcus bovis, HACEK group, Staphylococcus aureus
Community-acquired enterococci with no focal infection
Single positive blood culture for Coxiella burnetii or antiphase I IgG antibody titer > 1:800
|Echocardiogram evidence of endocardial involvement |
Oscillating intracardiac mass on a valve or on supporting structures, in the path of regurgitant jets, or on implanted material, in the absence of an alternative anatomic explanation
New partial dehiscence of prosthetic valve
New onset valvular regurgitation (worsening or changing of preexisting murmur not sufficient)
|Minor Criteria |
Predisposing heart condition or history of injection drug use
Vascular phenomena, major arterial emboli, septic pulmonary infarcts, mycotic aneurysm, intracranial hemorrhage, conjunctival hemorrhages, and Janeway lesions
Immunologic phenomena: glomerulonephritis, Osler nodes, Roth spots, rheumatoid factor
Microbiological evidence of a positive blood culture but does not meet a major criterion as noted above or serological evidence of active infection with organism consistent with infective endocarditis
Presence of one major and two or three minor criteria confirms the diagnosis of possible endocarditis (PE). Patients with PE should be treated as patients with IE until alternative diagnosis is confirmed, or if symptoms resolve within 4 days after the start of antibiotic therapy.
A patient with IE or PE should be evaluated further with comprehensive laboratory testing, including urinalysis (UA), cross-reactive protein (CRP), erythrocyte sedimentation rate (ESR), CBC, and three blood cultures drawn from three separate sites, preferably before antibiotic therapy is begun. ECG should be performed, especially if no baseline study is available, and echocardiography should take place as soon as it is available.
Most patients with IE can be managed with antibiotic therapy alone; however, because most agents penetrate heart vegetations poorly, protracted therapies are usually necessary. IV formulations, tailored to blood culture sensitivities, are usually indicated in order to maintain effective titers. When prospective clinical data is limited, the combination of an aminoglycoside and a methicillin-resistant Staphylococcus aureus (MRSA)-active agent such as vancomycin forms a reasonable empiric first-line therapy until sensitivities are available.
Congestive heart failure, usually due to aortic valve dysfunction, occurs in more than 50% of IE patients. Approximately 50% of those patients will require surgery; therefore, early consultation with a cardiothoracic surgeon is advised. Medical management is required in these patients for optimal results. Intracardiac abscess is another common IE complication, and when related to the aortic valve, the conduction system can become involved, causing heart block. Accurate diagnosis usually requires transesophageal echocardiography (TEE). Surgical intervention is the only effective therapy.
Between 20 and 50% of IE patients will suffer embolic events, as vegetations grow and fragment; however, decision to begin anticoagulation therapy should be made in conjunction with a surgeon, as intervention is frequently required.
Children presenting to the emergency department with a strong suspicion for IE require admission for additional diagnostic testing and treatment in consultation with infectious disease specialist and cardiologist.
Kawasaki disease (KD) is an acute systemic vasculitis most commonly found in children aged 6 months to 5 years and remains the most common cause of acquired heart disease in children. No definitive cause of the disease has been identified, therefore KD remains a clinical diagnosis, and should be considered in a child with prolonged fever. KD affects multiple organ systems; however, the most feared complication of KD is coronary artery aneurysm (CAA), which can lead to fatal thrombosis. With treatment, the aneurysm formation rate in KD drops from approximately 20% to less than 5%. As a result, prompt diagnosis and management of the disease is vital.
In a child with fever for more than 5 days, diagnosis of KD can be made with four of the following five clinical features: bilateral conjunctival infection; a change in mucous membranes (red, fissured or infected lips, tongue, cheek); a change in the extremities (erythema or edema of feet, hands); a polymorphous rash; and cervical lymphadenopathy.
Incomplete KD diagnosis is made if there are two or three criteria present, and the triad of conjunctivitis, mucous membrane involvement, and rash may increase sensitivity to the disease. Serum ESR, CRP, and BNP should be drawn and patients with diagnosis of full or incomplete disease should receive a prompt echocardiogram. As with any acutely ill patient, abnormal vital signs should be addressed and volume status should be assessed and managed appropriately in the emergency department.
After diagnosis of full or incomplete KD is made, the mainstay of treatment includes high-dose (2 g/kg) intravenous immunoglobulin (IVIG) given over 12 hours, with high-dose (80-100 mg/kg/day) aspirin divided into four doses. Addition of methylprednisolone may improve outcomes; however, its use is controversial, and therefore is reserved for patients whose symptoms fail to respond to initial treatment. Prompt ECG should be performed to provide a baseline for the necessary follow-up studies.
Patients with KD should be admitted for administration of IVIG and observation.
Myocarditis, inflammation of the myocardium, is often viral and self-limiting. Etiologies range from protozoan (trypanosoma cruzii) to certain drug toxicities. Most infections resolve completely without therapy; however, evidence of chronic myocarditis appears in 10% of unrelated autopsies, which indicates that the disease is far more common than previously suspected. Up to 20% of sudden infant death syndrome (SIDS) had evidence of myocarditis on postmortem endocardial biopsy.
Symptoms of viral myocarditis range from trivial to shock, depending upon the extent of myocyte infiltration of the cardiac muscle. Most patients experience prodromal symptoms typical of upper respiratory infection (URI) or gastrointestinal illness. As a result, 83% of myocarditis patients receive an alternative diagnosis on their first visit. As myocardial damage progresses, symptoms of cardiac stress may emerge, including shortness of breath, chest pain, reduced urine output, and other symptoms of heart failure.
The disease often takes an indolent course; however, progression can occasionally be exceedingly rapid. Initial studies should include ECG, although no criteria have proved sensitive or specific for the disease. In children, however, the presence of T-wave inversions, ST-segment elevations, or other signs of cardiac ischemia warrant further investigation. Troponin elevations are common, but by no means universal, and echocardiography is typically abnormal but nonspecific. Although endocardial biopsy is the gold standard, it continues to suffer from low sensitivity due to the patchy nature of the disease. Cardiac MRI is reported to be highly sensitive and specific, if available. The diagnosis of myocarditis remains a clinical one, and therapy should be initiated based on the patient’s presentation.
Initial treatment is typically symptom based. Patients presenting in acute heart failure should be stabilized immediately through afterload reduction, including diuresis and vasodilation. Routine use of steroids and other immune modulators is controversial, and the traditional administration of IVIG (2 g/kg in the first 24 hours), although likely safe, there is insufficient evidence at present to support its high cost. Interferon-beta shows promise, particularly against enteroviral and adenoviral illnesses but similarly lacks adequate trials in children to recommend it at this time. Digoxin should be used with caution, as it has the potential to increase inflammatory mediators.
Approximately 12-40% of patients with myocarditis will progress to dilated cardiomyopathy, with a higher percentage presenting in early, fulminant disease. If the patient fails the above therapies, a ventricular assist device may be necessary to maintain perfusion. Extracorporeal membrane oxygenation (ECMO) has been used with success.
Chronic active myocarditis is the persistence of symptoms for 3 months after resolution of the acute phase of the illness; however, most patients will completely resolve within 2 years. Among patients who continue to deteriorate, heart transplant may be the only long-term option, with a 15-year mortality rate of 50%.
Children diagnosed with myocarditis should be admitted to the hospital, even with mild symptoms. Rapid progression to severe heart failure and/or hemodynamic collapse may occur. Consultation with a cardiologist is indicated in all patients and transfer to a facility with a pediatric intensive care unit (PICU) and cardiology care should occur if the services are not available locally.
Acute pericarditis is caused by various infectious and inflammatory mediators that produce pericardial irritation. Viral infections are a common cause of pericarditis. Other etiologies are bacterial or fungal infections, autoimmune disorders, trauma, uremia, malignancy, radiation, and drug effects.
Classic presentation in verbal patients consists of sharp or stabbing chest pain that may be pleuritic in nature, worsened by the recumbent position, and improved with sitting upright. Patients with acute uncomplicated pericarditis generally do not appear toxic or lethargic.
There is a stereotyped pattern of ECG changes in pericarditis; however, 50% of patients go through all four ECG pattern changes (Figure 35–1). The first stage consists of generalized concave upward ST-segment elevation accompanied by PR depression. This is followed by normalization of the ST-segments with flattening of the T waves. Later, the T waves may invert without Q-wave formation, before the ECG returns to normal. When interpreting pediatric ECGs, the clinician must remember the normal pediatric T-wave pattern. In all ECGs performed for pericarditis, the clinician should look for electrical alternans as an ominous sign of pericardial tamponade. The physician should document the presence or absence of other signs of cardiac tamponade, such as jugular venous distension. The presence or absence of a pericardial friction rub should be noted.
Electrocardiogram findings in four stages of pericarditis.
Pericarditis is a clinical diagnosis. Blood work, if sent, may demonstrate an increase in the white blood cell count and a concomitant increase in inflammatory markers. Acute uncomplicated pericarditis should not cause significant elevation of the serum troponin or BNP. In acute uncomplicated pericarditis, chest radiography should be normal. Cardiomegaly, a “bottle-shaped” cardiothymic silhouette should raise the clinician’s suspicion for complications such as pericardial tamponade and congestive heart failure. Bedside echocardiography may demonstrate no effusion to a small pericardial effusion in acute uncomplicated pericarditis. The presence of a large effusion, right ventricular collapse, or other findings of tamponade indicate complicated disease and the need for emergent intervention.
Nonsteroidal anti-inflammatory drugs (NSAIDS) are the mainstay of therapy. Most patients with even a small pericardial effusion should be admitted for observation. Patients at risk for tamponade should be stabilized in consultation with a thoracic surgeon. Patients with tamponade and cardiovascular collapse should undergo emergent thoracotomy or pericardiocentesis. Patients with tamponade or impending tamponade require pericardial drainage prior to transfer to a receiving facility for definitive care.
Acute uncomplicated pericarditis can generally be managed as outpatient in healthy immunocompetent patients. Fever, trauma, subacute onset, immunocompromise, presence of oral anticoagulant therapy, significant effusion, tamponade, and NSAID treatment failure are indications for inpatient treatment.
Arrhythmias are relatively common in children and may occur in the presence of known cardiac defects or may occur in a structurally normal heart. Common dysrhythmias seen in children presenting to emergency departments are sinus tachycardia (50%), SVT (13%), bradycardia (6%), and atrial fibrillation (4.6%).
Arrhythmias may present in infants as fussiness, crying, difficulty feeding, respiratory difficulty, or diaphoresis. In older children, a history of palpitations or chest pain may be obtained. Syncope in a pediatric patient is always concerning for a possible underlying electrophysiologic disorder. Family history of sudden cardiac death should be noted. Severe dysrhythmias may present as cardiovascular collapse, congestive heart failure, or hypotension. Postoperative patients with congenital heart defects may be at increased risk for arrhythmias. Patients may present in normal sinus rhythm after experiencing symptoms of an arrhythmia.
The ECG is the mainstay of diagnosis of any electrophysiological disturbance. In patients who arrive after the arrhythmia has abated, the ECG may reveal the presence of an underlying electrophysiologic disorder such as Wolf-Parkinson-White (WPW) syndrome. Patients may benefit from event or Holter monitoring in the inpatient or outpatient setting. In patients with tachydysrhythmias, the physician must first ascertain the electrical origin of the arrhythmia and whether it is narrow or wide complex. Wide complex tachycardias such as supraventricular tachycardia (SVT) with aberrancy or ventricular tachycardia (VT) are quite alarming, and VT may cause hemodynamic instability. Narrow complex tachydysrhythmias are more common in children and may be stable or unstable. Bradydysrhythmias are less common but may present with impaired perfusion. Electrophysiologic causes of syncope with associated ECG findings after the arrhythmia has abated are listed in (Table 35–4).
Table 35–4.Common electrophysiological causes of syncope. |Favorite Table|Download (.pdf) Table 35–4. Common electrophysiological causes of syncope.
|Wolf-Parkinson-White syndrome || |
Delta wave: slurred upstroke of QRS complex
Shortened PR interval
|Hypertrophic obstructive cardiomyopathy || |
Left ventricular hypertrophy
Possible strain pattern
|Long QTc syndrome ||Prolonged QTc interval (usually > 480-500 msec) |
|Brugada syndrome || |
Type 1: Precordial J point elevation with coved ST-segment and inverted T wave
Type 2: Precordial “saddleback” ST-segment elevation
Type 3: Precordial ST-segment elevation < 1 mm
Unstable tachydysrhythmias require immediate electrical cardioversion. Significant bradydysrhythmias with impaired perfusion may require electrical pacing or pharmocologic management with adrenergic agents or atropine. Stable narrow complex tachydysrhythmias may be terminated with adenosine. In children less than 50 kg give 0.05-0.1 mg/kg one time dose. If the arrhythmia persists increase the dose by 0.05-0.2 mg/kg. Children more than 50 kg should receive the adult dose of 6 mg followed by 12 mg X 2 as needed to terminate the arrhythmia. Beta blockers and calcium channel blockers are effective in narrow complex tachycardias but should be avoided in patients with WPW syndrome. If adenosine fails to terminate narrow complex tachydysrhythmias, sedation and electrical cardioversion may be attempted.
Stable wide complex tachydysrhythmias may be treated pharmacologically with agents such as amiodarone. Serious electrophysiologic disorders such as Brugada syndrome must be recognized immediately by the emergency physician, and these patients should be admitted to the intensive care setting until an AICD can be placed, as the risk of sudden cardiac death is enormous. Early consultation with pediatric intensive care and cardiology teams is essential.
Children with stable narrow complex tachycardias that are terminated with treatment in the emergency department can be safely discharged after a brief observation. Referral to a cardiologist for follow-up evaluation is important. Patients with unstable narrow complex, wide complex tachycardias (stable or unstable), and bradydysrhythmias should be admitted or transferred depending on availability of consultation with a cardiologist and intensive care services.
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