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Suspected heart disease in infants and children: Criteria for referral

Suspected heart disease in infants and children: Criteria for referral
Literature review current through: May 2024.
This topic last updated: Nov 09, 2022.

INTRODUCTION — Most children with serious congenital heart disease (CHD) are diagnosed prenatally or during the neonatal period. However, CHD and acquired heart disease can present later in childhood.

The signs and symptoms that lead clinicians to suspect heart disease in infants and children and criteria referring patients to a pediatric cardiologist will be reviewed here. The approach to identifying critical CHD during the newborn period and assessing cardiac murmurs in infants and children are discussed separately. (See "Identifying newborns with critical congenital heart disease" and "Approach to the infant or child with a cardiac murmur".)

Individual cardiac conditions are also discussed separately. (See appropriate topic reviews.)

TIMING OF REFERRAL — Although somewhat obvious, the urgency of referral depends on the clinical condition of the patient and the seriousness of the underlying diagnosis that is suspected. Patients with hemodynamic instability, such as those with cardiogenic shock, require immediate care in an emergency department or intensive care setting. Urgent referral or consultation with a pediatric cardiologist should occur in patients with or at imminent risk for hemodynamic compromise or death due to suspected cardiac disease. (See "Shock in children in resource-abundant settings: Initial management".)

For patients who are hemodynamically stable but who have clinical findings suggestive of a cardiac condition with potential to progress (ie, cause hemodynamic compromise or even become life threatening over a period of weeks to months), referral to a pediatric cardiologist should occur within days to no longer than a week. In our center, these patients are generally seen within one week of their presentation. Signs, symptoms, and physical findings suggestive of such cardiac conditions are discussed below. (See 'Symptoms' below and 'Physical examination findings' below.)

For patients with potential cardiac lesions that are unlikely to progress to hemodynamic compromise, routine nonurgent referral is appropriate and can occur over a matter of weeks. This includes asymptomatic patients with a concerning murmur (eg, mild pulmonary or aortic valve stenosis) (table 1). (See "Approach to the infant or child with a cardiac murmur", section on 'Criteria for referral'.)

If there is a question about timing of referral, a pediatric cardiologist should be contacted to discuss the details of the case.

Referral considerations for some specific clinical findings include the following:

Poor perfusion/cardiogenic shock – For infants and children who present with signs of shock, a cardiogenic etiology should be suspected if there is a history of heart disease, an abnormal cardiac examination, and/or worsening clinical condition after fluid resuscitation. Patients in cardiogenic shock often have poor perfusion (delayed capillary refill [>3 seconds], cool extremities, and diminished distal pulses), respiratory distress (tachypnea and wheezing), and/or hepatomegaly. Patients presenting with poor perfusion and/or shock require emergency management as discussed separately. (See "Initial evaluation of shock in children" and "Shock in children in resource-abundant settings: Initial management".)

Cardiac diseases that may present as shock after the neonatal period include:

Left-sided obstructive lesions (eg, critical coarctation of the aorta (figure 1), critical aortic stenosis). (See "Clinical manifestations and diagnosis of coarctation of the aorta".)

Ventricular dysfunction due to acute myocarditis, dilated cardiomyopathy, multisystem inflammatory syndrome in children (MIS-C), or a congenital coronary anomaly (eg, anomalous left coronary artery from the pulmonary artery). (See "Clinical manifestations and diagnosis of myocarditis in children" and "Heart failure in children: Etiology, clinical manifestations, and diagnosis" and "COVID-19: Multisystem inflammatory syndrome in children (MIS-C) clinical features, evaluation, and diagnosis" and "Congenital and pediatric coronary artery abnormalities".)

Arrhythmias – Supraventricular tachycardia (SVT) is often hemodynamically well tolerated; however, an infant or child who has been in tachycardia for a sustained period of time may develop cardiogenic shock. Patients with SVT who are hemodynamically unstable require immediate cardioversion. Ventricular arrhythmias are less common in children but can be a cause of cardiogenic shock or cardiac arrest. (See "Management of supraventricular tachycardia (SVT) in children" and "Management and evaluation of wide QRS complex tachycardia in children".)

Cyanosis – Central cyanosis, a bluish purple discoloration of tissues (nail beds, tongue, and mucous membranes) is evident when systemic arterial concentration of deoxygenated hemoglobin in the blood exceeds 5 g/dL (3.1 mmol/L), which generally corresponds to an oxygen saturation ≤85 percent. Central cyanosis as a presenting sign of congenital heart disease (CHD) is most commonly seen during the first weeks of life in neonates with lesions dependent upon a patent ductus arteriosus (PDA) (table 2). As discussed separately, cyanotic CHD defects can be detected with neonatal pulse oximetry screening. (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

Patients with unexplained cyanosis should undergo urgent evaluation and treatment. The approach is discussed separately. (See "Approach to cyanosis in children", section on 'Initial evaluation'.)

Tachyarrhythmias – Tachyarrhythmias, particularly SVT, may present as either acute or more insidious episodes. Children with SVT are usually hemodynamically stable; however, they still require urgent evaluation and management. (See "Approach to the child with tachycardia" and "Management of supraventricular tachycardia (SVT) in children" and "Irregular heart rhythm (arrhythmias) in children".)

Syncope – There are many causes of childhood syncope, most of which are benign (table 3). Children who have had a syncopal event from which they have completely recovered and have no "red flags" for cardiac syncope (table 4) can generally be followed as outpatients. (See 'Syncope' below and "Emergency evaluation of syncope in children and adolescents".)

The likelihood of syncope due to cardiac disease is increased, and urgent referral to a cardiologist is warranted for the following:

Syncope associated with exercise or exertion

Syncope associated with chest pain

Syncope in a child with a history of acquired or CHD

Syncope in a child with a family history of syncope or sudden cardiac death (see "Approach to sudden cardiac arrest in the absence of apparent structural heart disease", section on 'Familial SCD')

Murmur – Heart murmurs are common in pediatric patients, but only a minority of patients have a structural heart defect. Features that help distinguish pathologic from innocent murmurs are summarized in the table and are discussed in greater detail separately (table 1). (See "Approach to the infant or child with a cardiac murmur", section on 'Distinguishing pathologic from innocent murmurs'.)

For the asymptomatic child with a concerning murmur, routine nonurgent referral is generally appropriate. However, urgent or emergency referral may be warranted if there are signs of poor perfusion and/or heart failure. (See "Approach to the infant or child with a cardiac murmur", section on 'Criteria for referral'.)

EVALUATION OF STABLE PATIENTS — In a hemodynamically stable patient, clinical evaluation to assess the likelihood of cardiac disease is based upon a thorough history and physical examination. In addition, pulse oximetry, chest radiography, and electrocardiography (ECG) may be helpful in the evaluation. The roles of routine pulse oximetry and ECG as screening tools for identifying cardiac disease in asymptomatic infants and children are discussed separately. (See "Newborn screening for critical congenital heart disease using pulse oximetry" and "Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) in children", section on 'Primary prevention of SCD'.)

Clinical context — In most infants and children with serious cardiac disease, clinical manifestations present as a constellation of findings rather than one isolated finding. As an example, an infant with a large ventricular septal defect (VSD) may present with a history of poor feeding, failure to thrive (FTT), respiratory symptoms, grunting, and physical examination findings that include a loud, harsh holosystolic murmur (movie 1), tachypnea, and hepatomegaly. In contrast, patients with less severe cardiac disease may present with a single isolated finding. For example, a child with mild aortic stenosis may present with a pathologic murmur (movie 2) without any associated symptoms.

The following sections describe clinical features that are suggestive of underlying cardiac disease in a hemodynamically stable child. It is beyond the scope of this discussion to address every specific cardiac defect and the range of its clinical presentation. However, if an infant or child presents with one of these historical features or physical findings, the clinician needs to consider whether or not the underlying cause of these manifestations is likely due to cardiac disease (table 1).

If the primary care provider has any question regarding whether referral is appropriate or the timing of referral, they should discuss the patient with a pediatric cardiologist.

The following specific cardiac conditions are discussed separately:

Atrial septal defects (ASDs) (see "Isolated atrial septal defects (ASDs) in children: Classification, clinical features, and diagnosis")

Coarctation of the aorta (see "Clinical manifestations and diagnosis of coarctation of the aorta")

Congenital coronary artery abnormalities (see "Congenital and pediatric coronary artery abnormalities")

Dilated cardiomyopathy (see "Causes of dilated cardiomyopathy")

Heart failure (see "Heart failure in children: Etiology, clinical manifestations, and diagnosis")

Hypertrophic cardiomyopathy (see "Hypertrophic cardiomyopathy in children: Clinical manifestations and diagnosis")

Hypoplastic left heart syndrome (see "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis")

Long QT syndrome (LQTS) (see "Congenital long QT syndrome: Diagnosis")

Myocarditis (see "Clinical manifestations and diagnosis of myocarditis in children")

Patent ductus arteriosus (PDA) (see "Patent ductus arteriosus (PDA) in term infants, children, and adults: Clinical manifestations and diagnosis")

Tetralogy of Fallot (see "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis")

D-transposition of the great arteries (see "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis")

Valvar, subvalvar, and supravalvar aortic stenosis (see "Valvar aortic stenosis in children" and "Subvalvar aortic stenosis (subaortic stenosis)")

VSDs (see "Isolated ventricular septal defects (VSDs) in infants and children: Anatomy, clinical features, and diagnosis")

Symptoms

Symptoms in infants — Lethargy, irritability, respiratory symptoms (eg, increased rate and work of breathing), and sweating are nonspecific symptoms that are common findings in infants with clinically significant cardiac disease. These symptoms are more common during feeding.

Poor feeding — Feeding is one of the most important "stressors" that an infant might experience. Although the history is often nonspecific, poor feeding and weight gain are common findings in an infant with significant cardiac disease with limited reserve.

The history often elicits the following findings associated with feeding:

Lethargy and tiring with early stopping of feeds

Respiratory distress with tachypnea, retractions, and/or wheezing

Trouble coordinating feeding and breathing

Irritability

Sweating

Respiratory symptoms — Respiratory symptoms (eg, tachypnea, grunting) are common presenting manifestations of cardiac disease in infancy. These symptoms often develop from conditions that increase the left atrial or pulmonary venous pressure (left-to-right shunts, left ventricular [LV] systolic dysfunction, left-sided obstructive lesions). Tachypnea and grunting are nonspecific findings that are also commonly seen in infants with pulmonary disease. (See "Causes of acute respiratory distress in children".)

Failure to thrive — Infants with clinically significant heart disease often have poor weight gain because of inadequate intake and increased metabolic demands. Although there are a multitude of causes for FTT, the possibility of a cardiac cause should be considered in infants who appear to tire easily while feeding, have symptoms of respiratory distress, or have a loud heart murmur on physical examination. (See "Poor weight gain in children younger than two years in resource-abundant settings: Etiology and evaluation".)

In particular, left-to-right shunt lesions (eg, VSD, PDA, complete atrioventricular [AV] septal defect) or severe AV valve regurgitation may present in infancy with FTT and a pathologic murmur (movie 1 and movie 3 and movie 4 and table 1). Cardiomyopathy may present as FTT without an accompanying murmur. (See "Isolated ventricular septal defects (VSDs) in infants and children: Anatomy, clinical features, and diagnosis" and "Patent ductus arteriosus (PDA) in term infants, children, and adults: Clinical manifestations and diagnosis" and "Clinical manifestations and diagnosis of atrioventricular (AV) canal defects" and "Familial dilated cardiomyopathy: Prevalence, diagnosis and treatment".)

Symptoms in children — As is true for infants, nonspecific symptoms are common in children with cardiac disease. These include exercise intolerance, inability to keep up with peers, respiratory distress, and poor weight gain.

Exercise intolerance — Exercise intolerance refers to the inability or diminished ability to perform physical exercise at a normally expected level. Symptoms may include easy fatigability, shortness of breath, and/or chest pain. These symptoms are nonspecific and may be caused by cardiac conditions, pulmonary conditions, or neuromuscular conditions or they may simply indicate poor physical fitness. Cardiac disease should be suspected if there are abnormal cardiac findings on examination, if there is a family history of cardiomyopathy or sudden cardiac death, or if there are other concerning symptoms. In particular, a history of exertional syncope should raise suspicion for cardiac disease.

Respiratory symptoms — As in infancy, respiratory symptoms (eg, tachypnea, dyspnea) may be presenting manifestations of cardiac disease in older childhood. However, tachypnea and dyspnea are nonspecific findings that are also commonly seen in children with pulmonary disease. (See "Causes of acute respiratory distress in children".)

Chest pain — Chest pain is a common symptom in children and adolescents. Its underlying cause is typically benign in this patient population (table 5). A thorough history and physical examination usually can determine the cause and differentiate patients who require further diagnostic studies and acute intervention from those who can be managed with reassurance and continued follow-up. Diagnostic studies (eg, ECG, chest radiograph, or echocardiogram) are warranted in patients with abnormal physical findings or with associated symptoms (eg, exertional syncope, palpitations, dyspnea, fever, or chest pain associated with exertion) that suggest underlying pulmonary or cardiac disease (table 6). The approach and initial management of children and adolescents with chest pain is determined by their clinical status on presentation and findings on history and physical examination (algorithm 1). Children with chest pain who have findings on history, physical examination, or ECG that suggest a cardiac cause or who have known underlying heart disease warrant prompt consultation with a pediatric cardiologist. The approach to evaluation and initial management is discussed separately. (See "Nontraumatic chest pain in children and adolescents: Approach and initial management".)

The most common cardiac causes of acute chest pain are inflammatory conditions such as pericarditis and myocarditis. Associated symptoms often include fever and prodromal viral symptoms. (See "Clinical manifestations and diagnosis of myocarditis in children" and "Acute pericarditis: Clinical presentation and diagnosis".)

Other rare cardiac etiologies of acute pediatric chest pain include pulmonary embolus, pulmonary hypertension, and cardiomyopathies. Patients with congenital coronary anomalies can present with exertional chest pain or syncope and typically do not have other abnormalities on physical examinations or ECG [1]. (See "Congenital and pediatric coronary artery abnormalities".)

Syncope — There are many causes of childhood syncope, most of which are benign (table 3). Syncope is rarely caused by a primary cardiac abnormality; however, cardiac disease that presents as childhood syncope may be life threatening. As a result, cardiac disease must be initially excluded as a cause of childhood syncope. This generally can be done by a thorough history and examination. Children who have had a syncopal event from which they have completely recovered and have no "red flags" for cardiac syncope (table 4) can generally be followed as outpatients. (See "Emergency evaluation of syncope in children and adolescents".)

The likelihood of syncope due to cardiac disease is increased, and urgent referral to a cardiologist is recommended for the following:

Syncope associated with exercise or exertion

Syncope associated with chest pain

Syncope in a child with a history of acquired or congenital heart disease (CHD)

Syncope in a child with a family history of syncope or sudden cardiac death (see "Approach to sudden cardiac arrest in the absence of apparent structural heart disease", section on 'Familial SCD')

Cardiac syncope results from diminished cerebral perfusion due to impaired cardiac output. Cardiac diseases that may present as syncope can be divided into the following categories:

Electrophysiologic abnormalities, such as Wolff-Parkinson-White syndrome or channelopathies that include LQTS, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. These conditions can produce ventricular arrhythmias resulting in syncope or cardiac arrest. (See "Wolff-Parkinson-White syndrome: Anatomy, epidemiology, clinical manifestations, and diagnosis" and "Congenital long QT syndrome: Epidemiology and clinical manifestations" and "Brugada syndrome: Clinical presentation, diagnosis, and evaluation" and "Catecholaminergic polymorphic ventricular tachycardia".)

CHDs that cause LV outflow tract obstruction (aortic stenosis) or that can produce ventricular arrhythmias (congenital coronary artery anomalies). (See "Valvar aortic stenosis in children" and "Congenital and pediatric coronary artery abnormalities".)

Cardiac muscle disease, including hypertrophic cardiomyopathy, dilated cardiomyopathy, myocarditis, and arrhythmogenic right ventricular (RV) dysplasia, can produce ventricular arrhythmias. Pulmonary hypertension and impaired ventricular systolic function can also cause syncope from decreased cardiac output. (See "Hypertrophic cardiomyopathy in children: Clinical manifestations and diagnosis" and "Clinical manifestations and diagnosis of myocarditis in children" and "Arrhythmogenic right ventricular cardiomyopathy: Anatomy, histology, and clinical manifestations".)

Fever — Fever is a nonspecific finding that can be present in patients with cardiac pathology due to systemic disease.

Inflammatory illnesses, such as pericarditis and myocarditis, can present with fever and are often idiopathic or the result of a viral infection. Other systemic illnesses, such as systemic lupus erythematosus or inflammatory bowel disease, develop pericarditis as a consequence of systemic inflammation. (See "Clinical manifestations and diagnosis of myocarditis in children" and "Acute pericarditis: Clinical presentation and diagnosis".)

Endocarditis should be considered in a febrile patient with a history of CHD. In children without CHD, new systolic murmurs in the setting of fever are not unusual and usually do not herald endocarditis. However, diastolic murmurs, persistent bacteremia, or the risk factors outlined above should prompt cardiology evaluation. (See "Clinical manifestations and evaluation of adults with suspected left-sided native valve endocarditis".)

Kawasaki disease (KD) should be considered in any child with a fever greater than five days, particularly if it is accompanied by rash, lymphadenopathy, conjunctivitis, and distal extremity changes. The major complications of KD are coronary artery aneurysms. (See "Kawasaki disease: Clinical features and diagnosis".)

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition linked to SARS-CoV-2 infection and can present with persistent fevers, cardiogenic or distributive shock, and features of KD. This condition is discussed in detail separately. (See "COVID-19: Multisystem inflammatory syndrome in children (MIS-C) clinical features, evaluation, and diagnosis".)

Acute rheumatic fever, a sequela of group A streptococcal pharyngitis, can present with fever as part of a constellation of findings. The Jones criteria are the primary guideline used to make a diagnosis of acute rheumatic fever (table 7). (See "Acute rheumatic fever: Clinical manifestations and diagnosis".)

Family history — A family history of structural CHD in a sibling or parent increases the risk of CHD (table 8). Left-sided obstructive lesions (bicuspid aortic valve, coarctation of the aorta) have a higher familial predominance than other forms of CHD. In addition, many cardiovascular diseases have a strong autosomal dominant inheritance pattern, including certain forms of dilated and hypertrophic cardiomyopathy, and channelopathies such as LQTS, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.

For families with identified cardiac disease phenotypes, such as hypertrophic cardiomyopathy or LQTS, a discussion should occur with the pediatrician and the pediatric cardiologist to determine if and when further cardiac diagnostic testing of other family members should occur. (See "Hypertrophic cardiomyopathy in children: Clinical manifestations and diagnosis", section on 'Evaluation of first-degree relatives' and "Congenital long QT syndrome: Pathophysiology and genetics".)

Physical examination findings — When evaluating for underlying cardiac disease, a thorough physical examination should be performed. Key components include the general appearance, vital signs (heart rate, blood pressure, and respiratory rate), the respiratory and cardiovascular examination, and the presence of any congenital anomaly or syndrome associated with CHD (table 9).

This section reviews the physical examination findings suggestive of underlying cardiac disease in a hemodynamically stable infant and child.

Abnormal heart rate or rhythm — Normal heart rate varies with age (table 10). An abnormal heart rate (bradycardia or tachycardia) is a nonspecific finding and can be due to cardiac and noncardiac causes (table 11A-B). An ECG is helpful in evaluating the cause of the abnormal heart rate. As discussed above, symptomatic patients with tachycardia due to tachyarrhythmias require urgent referral. The approach to children with tachycardia, bradycardia, or irregular heart rate is reviewed in detail separately. (See "Approach to the child with tachycardia" and "Bradycardia in children" and "Irregular heart rhythm (arrhythmias) in children".)

Hypertension — In patients with an elevated blood pressure, a key goal of the evaluation is to determine whether the patient has primary versus secondary hypertension. The approach to evaluating hypertension in children is discussed in detail separately. (See "Evaluation of hypertension in children and adolescents".)

In the initial evaluation for hypertension, blood pressure should be measured in both upper and lower extremities to evaluate for coarctation of the aorta (figure 1). (See "Clinical manifestations and diagnosis of coarctation of the aorta".)

Respiratory abnormalities — Although respiratory symptoms are nonspecific, they are a common finding in infants and children with cardiac disease. They include the following:

Tachypnea is often present in patients with left-to-right shunts as a result of increased pulmonary blood flow or pulmonary venous congestion. This left-to-right shunt flow is often referred to as pulmonary overcirculation or congestive heart failure in pediatrics. Retractions may also be seen in patients with pulmonary involvement. Tachypnea and retractions are also seen in patients with severe left heart obstructive lesions or cardiomyopathies that increase the left atrial pressure.

Wheezing is suggestive of primary pulmonary disease; however, wheezing may be present in the setting of cardiac disease associated with elevated LV end-diastolic pressure or pulmonary hypertension. Cardiac disease should be considered in the differential diagnosis of any infant with wheezing without an obvious pulmonary cause.

Rales are often heard in children with heart failure and pulmonary overcirculation.

Stridor may be a manifestation of airway obstruction that is caused by a congenital vascular anomaly, such as a vascular ring. (See "Vascular rings and slings".)

Cardiovascular examination — The physical examination should include careful review of the vital signs (including measurement of blood pressure in upper and lower extremities), assessment of heart rate and rhythm, assessment of pulses, and detailed cardiovascular examination (including inspection, palpation, and auscultation of the chest). Auscultation includes assessment of the first and second heart sound (movie 5) and listening for potential pathologic sounds such as a third heart sound (movie 6), fourth heart sound (movie 7 and movie 8), opening snap (movie 9), ejection click (movie 10), friction rub (movie 11), and murmurs. (See "Approach to the infant or child with a cardiac murmur", section on 'Heart murmurs'.)

Findings that are suggestive of heart disease and warrant a referral to a cardiologist are summarized in the table and are discussed in detail separately (table 1). (See "Approach to the infant or child with a cardiac murmur".)

Other physical examination findings — Other notable physical examination findings include:

Hepatomegaly – An enlarged liver due to hepatic congestion can result from any cause of fluid overload, elevated RV pressure, or RV systolic dysfunction. The liver edge is typically firm and smooth.

Edema – Peripheral edema is not a common manifestation of cardiac disease in children and is rare in infants with CHD. Although periorbital edema may be seen in patients with severe heart disease, it is rarely seen in isolation. Pedal and sacral edema are more commonly associated with renal disease, such as nephrotic syndrome. (See "Pathophysiology and etiology of edema in children".)

Extracardiac abnormalities – Extracardiac abnormalities are frequently detected in children with CHD. Congenital skeletal anomalies of the limbs or vertebrae and various renal anomalies are often associated with cardiac malformations.

CHD may be a component of many specific syndromes and chromosomal disorders (table 9) [2]. For example, cardiac disease is seen in approximately one-half of individuals with Down syndrome. (See "Down syndrome: Clinical features and diagnosis", section on 'Cardiovascular disease'.)

Initial tests

Laboratory testing — Routine laboratory blood testing is typically not indicated in the evaluation of suspected cardiac disease. Serum troponin can be helpful in evaluating patients with suspected myocarditis in the emergency department setting. (See "Clinical manifestations and diagnosis of myocarditis in children", section on 'Cardiac biomarkers (troponin)'.)

Brain natriuretic peptide (BNP) is sometimes used in the evaluation of patients with suspected cardiomyopathy or myocarditis. BNP levels can help discriminate between cardiac disease and noncardiac causes of heart failure symptoms (eg, pulmonary disease). (See "Heart failure in children: Etiology, clinical manifestations, and diagnosis", section on 'Laboratory tests' and "Clinical manifestations and diagnosis of myocarditis in children", section on 'Natriuretic peptides'.)

Chest radiography — Chest radiography is easily obtained and can be helpful in differentiating cardiac disease from pulmonary disease, particularly in patients who present with tachypnea and increased work of breathing.

Important chest radiographic findings include cardiomegaly, pulmonary edema, and vascular congestion in patients with left-to-right shunting, left-sided obstructive lesions, and/or LV systolic dysfunction (image 1). An absence or decrease in pulmonary markings (oligemia) can be result from inadequate pulmonary blood flow (pulmonary atresia, tetralogy of Fallot (image 2), pulmonary embolism).

Electrocardiography — ECG can be helpful in the evaluation of suspected cardiac disease in children who have abnormalities on physical examination and/or a concerning clinical or family history. However, as discussed separately, the routine use of ECGs to screen for cardiac disease in asymptomatic children is generally not recommended. (See "Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) in children", section on 'Primary prevention of SCD'.)

The following are ECG findings that most pediatric cardiologist would consider abnormal and warrant further investigation. They are divided into two categories:

Pathologic findings – The following ECG findings directly correlate with cardiac disease. Patients with these findings should be referred to a pediatric cardiologist.

Wolff-Parkinson-White syndrome – ECG shows a short PR interval and a delta wave with a wide QRS (waveform 1). (See "Clinical features and diagnosis of supraventricular tachycardia (SVT) in children".)

LQTS – ECG shows a prolongation of the QTc interval of greater than 460 msec (waveform 2). The clinician must evaluate this finding in the proper clinical context since medications and electrolyte derangements can prolong the QTc interval. A family history is also critical in making the diagnosis of LQTS. (See "Congenital long QT syndrome: Diagnosis".)

Second- or third-degree heart block (waveform 3 and waveform 4 and waveform 5). (See "Bradycardia in children", section on 'Atrioventricular heart block'.)

Sinus pauses or other signs of sinus node dysfunction (waveform 6). (See "Sinoatrial nodal pause, arrest, and exit block".)

Myocardial ischemia or inflammation is often associated with abnormal T waves inversions in V5 and/or V6, unusual T wave morphology (including notched, biphasic, or flat T waves), or ST segment depression. (See "ECG tutorial: ST and T wave changes".)

Possible pathology – The following ECG findings are suggestive of cardiac disease. In patients with these findings, referral to a pediatric cardiologist may be warranted if there are other concerning findings for cardiac disease (eg, pathologic cardiac murmur).

LV hypertrophy can be found in systemic hypertension, left heart obstructive lesions, such as aortic stenosis or subaortic stenosis (which should be accompanied by a heart murmur), and hypertrophic cardiomyopathy. In addition, the ECG can show LV hypertrophy in patients with LV dilation (eg, from a left-to-right shunt such as a VSD and PDA, or in dilated cardiomyopathy). LV hypertrophy is also a common normal variant in male adolescent athletes. (See "Athletes with arrhythmias: Electrocardiographic abnormalities and conduction disturbances", section on 'Clinical approach to reading the ECG in athletes'.)

RV hypertrophy can result from right heart obstructive lesions such as valvar pulmonary stenosis. RV hypertrophy on an ECG can also be the result of RV dilation. The left-to-right flow across an ASD can result in RV volume overload and RV hypertrophy on an ECG.

Left axis deviation (LAD) or a superior axis is suggestive of an AV canal defect in an infant. LAD is also an additional criterion used in the ECG diagnosis of LV hypertrophy in older children and adults. In a retrospective chart review of 158 children without previously known heart disease who had LAD on ECG, 15 percent were found to have heart disease on echocardiogram [3]. Heart disease was more likely in patients with abnormal cardiac examination findings and/or ECG chamber enlargement, hypertrophy, or a QRS axis ≤-42°. The most common diagnoses were secundum ASD, partial AV canal defect, dilated cardiomyopathy, and hypertrophic cardiomyopathy.

Right axis deviation and right atrial enlargement are suggestive of a secundum ASD that is often accompanied by a widely split second heart sound and a pulmonary flow murmur. (See "Isolated atrial septal defects (ASDs) in children: Classification, clinical features, and diagnosis", section on 'Secundum defects'.)

A complete right bundle branch block or left bundle branch block is most commonly associated with previous cardiac surgery.

Intraventricular conduction delay (>0.12 seconds in patients >12 years of age; >0.10 seconds in patients <8 years of age). This may be a variant of normal but may also be associated with RV volume overload as is seen in an ASD.

Premature atrial contractions are usually benign, especially in an asymptomatic child with a normal physical examination. Similarly, premature ventricular contractions (PVCs) are often benign, but referral is generally warranted in pediatric patients with frequent PVCs. (See "Irregular heart rhythm (arrhythmias) in children" and "Causes of wide QRS complex tachycardia in children".)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Congenital heart disease in infants and children".)

SUMMARY AND RECOMMENDATIONS

Timing of presentation – Although most congenital heart disease (CHD) is diagnosed in the newborn period, clinically significant cardiac disease can present anytime throughout infancy and childhood. (See 'Introduction' above.)

Common presenting symptoms – Infants and children with cardiac disease often present with nonspecific symptoms. (See 'Symptoms' above.)

Infants – Common presenting symptoms in infancy include lethargy, irritability, tachypnea, sweating, poor feeding, and poor weight gain.

Older children – Symptoms of cardiac disease in older children may include lethargy, exercise intolerance, and respiratory distress. Chest pain and syncope are common reasons for referral to a pediatric cardiologist; however, these symptoms are infrequently associated with cardiac disease in children.

Evaluation – In hemodynamically stable patients, the clinical evaluation to assess the likelihood of cardiac disease includes the following (see 'Evaluation of stable patients' above):

Personal and family history – The history includes details of the child's past medical history and presenting symptoms. A thorough family history should be part of the evaluation since some forms of structural CHD have familial patterns (table 8). In addition, certain types of cardiomyopathy and channelopathies have a strong autosomal dominant inheritance pattern. (See 'Family history' above.)

Physical examination – Key physical examination findings that are suggestive of underlying childhood cardiac disease include poor weight gain, poor peripheral perfusion, respiratory abnormalities (tachypnea, retractions, wheezes), and cardiac auscultatory abnormalities (pathologic heart murmur, abnormal second heart sound, gallop, rub). (See 'Physical examination findings' above and "Approach to the infant or child with a cardiac murmur", section on 'Cardiovascular examination'.)

Initial tests – Chest radiography and ECG are often obtained in the initial evaluation of suspected cardiac disease in children. While these tests are usually not diagnostic, they may be helpful in differentiating cardiac disease from pulmonary disease and identifying children who warrant further evaluation. (See 'Initial tests' above.)

Timing of referral – The urgency of referral depends on the clinical condition of the patient and the seriousness of the suspected underlying diagnosis. Patients with cardiogenic shock require immediate care in an emergency department or intensive care setting. Urgent referral or consultation with a pediatric cardiologist should occur in patients with or at imminent risk for life-threatening cardiac disease. For an asymptomatic child with a concerning murmur, routine nonurgent referral is generally appropriate. If there is a question about timing of referral, a pediatric cardiologist should be contacted to discuss the details of the case. (See 'Timing of referral' above.)

ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges Stuart Berger, MD, who contributed to an earlier version of this topic review.

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