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Diagnosis and initial management of cyanotic heart disease in the newborn

Diagnosis and initial management of cyanotic heart disease in the newborn
Literature review current through: Jun 2023.
This topic last updated: Aug 26, 2021.

INTRODUCTION — Cyanotic lesions comprise approximately one-third of potentially fatal forms of congenital heart disease (CHD) [1,2]. Critical CHD is defined as lesions requiring surgery or catheter-based intervention in the first year of life. This includes both cyanotic and noncyanotic lesions as summarized in the table (table 1). Early recognition, emergency stabilization, and transport to an appropriate cardiac care center are essential steps to ensuring optimal outcomes for newborns with these lesions.

The evaluation and initial management of cyanotic CHD in the newborn are presented here. An overview of cardiac causes of cyanosis in the newborn, the approach to identifying newborns with critical CHD, and the use of pulse oximetry screening to detect CHD are discussed separately:

(See "Cardiac causes of cyanosis in the newborn".)

(See "Identifying newborns with critical congenital heart disease".)

(See "Newborn screening for critical congenital heart disease using pulse oximetry".)

PRENATAL DIAGNOSIS — A standard obstetric ultrasound examination includes assessment of the four chambers and ventricular outflow tracts of the fetal heart. While prenatal screening detects many cases of CHD, its sensitivity is highly variable depending on operator expertise, gestational age, fetal position, and type of defect. As a result, prenatal ultrasonography will miss some patients with cyanotic CHD. Prenatal screening and diagnosis are discussed in detail separately. (See "Congenital heart disease: Prenatal screening, diagnosis, and management".)

POSTNATAL DIAGNOSIS — In affected neonates who are not identified by prenatal ultrasonography, cyanotic congenital heart disease (CHD) may be suspected based upon history, physical findings, pulse oximetry screening, chest radiography, and/or electrocardiogram (ECG) findings (table 2). The diagnosis is confirmed by echocardiography.

Central cyanosis caused by reduced arterial oxygen saturation is generally perceptible when the reduced hemoglobin level exceeds 3 g/dL (figure 1) [3]. It can result from several different pathologic mechanisms that are caused by cardiac disorders, pulmonary abnormalities, or hemoglobinopathies (table 3) [3]. A broader discussion of noncardiac causes of central cyanosis in newborns is provided separately. (See "Approach to cyanosis in the newborn", section on 'Causes of central cyanosis'.)

History — A thorough history may identify maternal medical or prenatal conditions, or family history of CHD, that increase the risk of CHD (table 4). (See "Identifying newborns with critical congenital heart disease", section on 'History'.)

Physical examination — The physical examination may be useful in differentiating CHD from other cyanotic disorders, such as respiratory disease or sepsis, which have overlapping clinical findings. Once a cardiac etiology is determined, the examination also provides clues to the underlying specific cardiac defect (table 2). The approach to the physical examination in infants with suspected CHD is discussed in greater detail separately. (See "Identifying newborns with critical congenital heart disease", section on 'Physical examination'.)

The following discussion summarizes key findings that are suggestive of specific cyanotic cardiac lesions.

Vital signs — Vital signs can be normal in some infants with cyanotic CHD. Findings that may point to a specific cardiac lesion include:

Blood pressure gradient – A blood pressure gradient between the arms and legs, or weakened or absent femoral pulses, suggests left ventricular dysfunction associated with severe coarctation of the aorta or interrupted aortic arch. If the ductus arteriosus is widely patent, no gradient may be detected between the arms and legs in these disorders. (See "Clinical manifestations and diagnosis of coarctation of the aorta".)

Respiratory distress – Examples of CHD lesions that may present with significant respiratory distress include obstructed total anomalous pulmonary venous connection and left-sided obstructive disease (eg, hypoplastic left heart syndrome [HLHS], critical valvar aortic stenosis, and severe coarctation of the aorta). (See "Identifying newborns with critical congenital heart disease", section on 'Respiratory symptoms'.)

Tachycardia and hypotension – Peripheral cyanosis associated with tachycardia, tachypnea, and hypotension often suggests sepsis. However, it is also important to consider left-heart obstructive lesions with heart failure such as HLHS, critical aortic stenosis, and severe coarctation of the aorta in the differential diagnosis of peripheral cyanosis. (See "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis" and "Valvar aortic stenosis in children" and "Clinical manifestations and diagnosis of coarctation of the aorta".)

Pulse oximetry — In cyanotic neonates, transcutaneous oxygen saturation (ie, pulse oximetry) should be measured from preductal (right hand) and postductal sites (right or left foot). Oxygen saturation values are reduced with central cyanosis and usually normal with peripheral cyanosis. A difference in values at the two sites identifies patients with differential cyanosis. The routine use of pulse oximetry in the newborn period to screen for critical CHD disease has been shown to be effective for identifying infants who are not detected prenatally. The approach is summarized in the algorithm and is discussed in greater detail separately (algorithm 1). (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

Second heart sound — The second heart sound (S2) is normally split in inspiration (aortic component before pulmonary component). Splitting is usually audible in 66 percent of infants at 16 hours of age and in 80 percent by 48 hours [1]. (See "Identifying newborns with critical congenital heart disease", section on 'Physical examination'.)

Single S2 – The S2 will appear to be single without splitting during auscultation in the following forms of cyanotic CHD (table 2). However, it may be difficult to appreciate this finding in a tachycardiac, ill neonate.

In transposition of the great arteries, the pulmonary artery is located posterior and directly behind the aorta. Thus, the aortic component of S2 is loud because of its anterior location, and the softer pulmonary component is often inaudible. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis".)

Pulmonary atresia, truncus arteriosus, or HLHS with aortic atresia have only a single semilunar valve, so S2 has only one component. (See "Truncus arteriosus" and "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis".)

In tetralogy of Fallot (TOF), the diminished pulmonary valve excursion associated with pulmonary stenosis makes the pulmonary component of S2 soft and difficult to detect, especially if there is late peaking of the right ventricular outflow tract systolic murmur. (See "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis".)

Widely split S2 – S2 is widely split in patients with total anomalous pulmonary venous connection, which is also difficult to appreciate in a tachycardiac, ill neonate. (See "Total anomalous pulmonary venous connection".)

Murmur — A pathologic murmur is audible in most common forms of cyanotic CHD (table 2).

Patients with TOF typically have a murmur caused by pulmonary stenosis (movie 1). TOF associated with pulmonary atresia often has a murmur associated with a patent ductus arteriosus (PDA) (movie 2) or aortopulmonary collaterals that can be detected as pulmonary vascular resistance falls. (See "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis" and "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries (TOF/PA/MAPCAs)".)

A soft outflow systolic murmur is heard in pulmonary atresia with intact ventricular septum, HLHS, or truncus arteriosus. In all of these lesions, the cardiac output crosses a single semilunar valve and the volume of blood flow causes the associated murmur. Some patients with truncus arteriosus also have a diastolic murmur of truncal valve regurgitation. (See "Pulmonary atresia with intact ventricular septum (PA/IVS)" and "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis" and "Truncus arteriosus".)

Pulmonary atresia is often associated with tricuspid regurgitation. This produces a systolic murmur at the left lower sternal border.

Tricuspid atresia is usually associated with a ventricular septal defect (movie 3) and pulmonary stenosis (movie 1), which create systolic murmurs. (See "Tricuspid valve atresia".)

The tricuspid valve in Ebstein anomaly is nearly always regurgitant and produces a systolic murmur at the left lower sternal border. (See "Clinical manifestations and diagnosis of Ebstein anomaly".)

D-transposition of the great arteries (D-TGA) with an intact ventricular septum and no pulmonary stenosis typically has no murmur. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis".)

Descriptions and examples of innocent and pathologic murmurs in infants and children are provided separately. (See "Approach to the infant or child with a cardiac murmur".)

Hepatomegaly — Hepatomegaly often occurs in patients with heart failure due to left-sided obstructive lesions (eg, HLHS, coarctation, critical aortic stenosis), cardiomyopathy, or infradiaphragmatic total anomalous pulmonary venous connection.

A palpable liver in the midline suggests complex CHD (heterotaxy syndromes) associated with asplenia or polysplenia. (See "Heterotaxy (isomerism of the atrial appendages): Anatomy, clinical features, and diagnosis".)

Some infants with pulmonary disease can appear to have hepatomegaly, but this is caused by displacement by a flattened diaphragm due to hyperinflation. The liver span is not enlarged in these patients.

Extracardiac findings — Extracardiac abnormalities are frequently detected in children with CHD, and CHD may be a component of many specific syndromes and chromosomal disorders (table 5).

Chest radiograph — A chest radiograph is helpful in differentiating between cardiac and pulmonary disorders. Examination of the lung fields identifies major pulmonary causes of cyanosis including pneumothorax, pulmonary hypoplasia, diaphragmatic hernia, pulmonary edema, pleural effusion, or airway disease.

Three features of the chest radiograph that can be suggestive of specific cardiac lesions are heart size and shape, pulmonary vascular markings, and situs of the aortic arch:

Cardiomegaly – Patients with left-sided obstructive lesions (eg, critical aortic stenosis, aortic coarctation) may have cardiomegaly due to heart failure. (See "Valvar aortic stenosis in children".)

Extreme cardiomegaly suggests lesions associated with a dilated right atrium since this chamber is very compliant. These include pulmonary atresia with intact ventricular septum or Ebstein anomaly. (See "Pulmonary atresia with intact ventricular septum (PA/IVS)" and "Clinical manifestations and diagnosis of Ebstein anomaly".)

Heart shape – Characteristic abnormalities of heart shape are associated with specific lesions:

TOF – Boot-shaped (coeur en sabot) contour (image 1). (See "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis".)

D-TGA – Egg-on-a-string pattern caused by a narrow mediastinal shadow produced by the anterior-posterior rather than right-left relationship of the great arteries. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis".)

Pulmonary vascular markings – The pattern of pulmonary blood flow depends upon the specific cardiac lesion. Although decreased pulmonary vascular markings occur in most cyanotic CHD lesions, they are increased in patients with truncus arteriosus or mixing lesions, such as common atrioventricular canal, as pulmonary vascular resistance falls after delivery.

In D-TGA, vascular markings may be asymmetric. In this condition, the right pulmonary artery branches from the main pulmonary artery along the long axis of the left ventricle, while the left pulmonary artery branches acutely. This anatomy often promotes preferential increased flow to the right lung and asymmetric blood flow with reduced markings in the left lung. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis".)

Pulmonary venous congestion due to heart failure is characterized by indistinct vascular markings spreading in a butterfly distribution from the central region of the chest. This is often seen in obstructed total anomalous pulmonary venous connection (image 2) or failure due to left-sided obstructive lesions (HLHS or severe coarctation of the aorta) or cardiomyopathy. (See "Heart failure in children: Etiology, clinical manifestations, and diagnosis", section on 'Chest radiography'.)

Situs of aortic arch – The situs of the aortic arch is defined by which of the mainstem bronchi the arch crosses. This is best determined by the indentation of the trachea on the anteroposterior image, indicating the side towards which the aortic arch is coursing. The normal anatomy is a left-sided aortic arch with indentation of the left side of the trachea as the arch crosses over the left mainstem bronchus.

A right aortic arch results in an indentation on the right side of the trachea. Approximately 20 percent of patients with TOF (image 1) [4] and 30 percent with truncus arteriosus [5] have a right aortic arch. Because TOF is much more common than truncus arteriosus, a right aortic arch in a cyanotic infant usually suggests TOF. A right aortic arch may also be associated with other lesions, such as transposition of the great arteries.

Electrocardiogram — In the fetus, the right ventricle has a larger volume load than the left ventricle since there is limited pulmonary flow and thus reduced blood volume in the left heart. As a result, the normal neonatal ECG has right-axis deviation (QRS axis +90 to +180 degrees) and a precordial pattern of right ventricular hypertrophy.

Although the ECG may be normal in many cyanotic heart lesions during the neonatal period, some lesions are associated with specific patterns (table 2). These include the following:

Lesions associated with a small right ventricle have the following:

Left-axis deviation for age (for pulmonary atresia intact, ventricular septum typically +30 to +90 degrees; for tricuspid atresia with normally related great arteries, typically -30 to -90 degrees)

Right atrial enlargement – Tall, peaked P waves most easily identified in lead II

Left ventricular hypertrophy

HLHS often has marked right ventricular hypertrophy (increased QRS voltage in the right and anterior lead) and decreased left ventricular forces in the lateral precordial leads.

Ebstein anomaly has right atrial enlargement and, occasionally, a delta wave of Wolff-Parkinson-White syndrome.

Hyperoxia test — The hyperoxia test historically was used to help distinguish cardiac from pulmonary causes of cyanosis. With the advent of routine pulse oximetry screening for critical CHD and improved access to echocardiography, the hyperoxia test is usually not necessary. (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

However, hyperoxia testing may be useful in some settings, particularly if echocardiography is not readily available.

Hyperoxia testing can be performed formally, using arterial blood gases (ABGs), or informally, using a pulse oximeter:

Formal hyperoxia testing (using ABGs) – Testing is performed by measuring the partial pressure of oxygen (PaO2) in the right radial artery (preductal) before and after administration of 100 percent inspired oxygen for 10 minutes. An increase in the PaO2 to a level >150 mmHg during the hyperoxia test suggests pulmonary disease (table 6). An increase to a value <150 mmHg or no increase is suggestive of cyanotic CHD. PaO2 levels differ somewhat depending on the type of CHD lesion as summarized in the table (table 7).

Informal hyperoxia testing (using pulse oximetry) – The hyperoxia response can be assessed informally using a pulse oximeter, thereby avoiding arterial puncture for blood sampling. However, this method is less reliable than measuring the PaO2. An increase in the oxygen saturation by ≥10 percent with administration of 100 percent inspired oxygen suggests a pulmonary cause of cyanosis. This finding by itself is generally not sufficient to forego additional evaluation with echocardiography. However, it may be helpful when added to other findings that suggest pulmonary disease (eg, history, examination, and chest radiograph findings).

Hyperoxia testing is not definitive. An abnormal or equivocal response should generally prompt further evaluation with echocardiography. While a rise in oxygen saturation and PaO2 during the challenge suggest a pulmonary cause of cyanosis, it does not exclude CHD and echocardiography should still be performed if clinical suspicion for CHD remains high based upon other findings. (See 'Echocardiography' below.)

In addition, it is important to recognize that the response to hyperoxia testing in patients with severe forms of lung disease or persistent pulmonary hypertension may be falsely suggestive of CHD (ie, little or no increase in oxygen saturation and PaO2 during the challenge). (See "Persistent pulmonary hypertension of the newborn (PPHN): Clinical features and diagnosis".)

The physiologic basis for the hyperoxia test is as follows:

In cyanotic CHD due to right-to-left shunting, blood in the pulmonary veins is fully saturated with oxygen in ambient air. Administering higher concentrations of inspired oxygen increases the amount of dissolved oxygen but has minimal effect on oxygen tension levels because there is no effect on the deoxygenated blood that is shunted to the systemic circulation.

In contrast, patients with pulmonary disease have pulmonary venous desaturation. Supplemental oxygen administration in pulmonary disease typically increases pulmonary venous oxygen levels and improves systemic oxygenation.

Echocardiography — Echocardiography, including imaging, and pulsed and color Doppler interrogation of flow patterns provides a definitive diagnosis of CHD with information on cardiac anatomy and function. Echocardiography should be performed in newborns with central cyanosis if the initial evaluation does not reveal another clear cause for the low oxygen level (eg, lung disease). Other indications for echocardiography include blood pressure or pulse differential between upper and lower extremities, cardiomegaly, or pathologic murmur.

Other tests — Other tests included in the evaluation of a neonate with cyanosis include arterial blood gas, complete blood count, and blood cultures.

Arterial blood gas — An arterial blood gas measurement provides information on the PaO2, partial pressure of arterial carbon dioxide (PaCO2; indicative of adequate ventilation), and arterial pH.

An arterial PO2 value provides more specific data than oxygen saturation. Because of the increased affinity of fetal hemoglobin for oxygen, arterial PO2 values at a given level of oxygen saturation are often lower in newborns than in adults. (See "Approach to cyanosis in the newborn".)

An elevated arterial PCO2 value often indicates the presence of pulmonary disease. Arterial PCO2 may also be increased in heart failure due to pulmonary congestion.

A reduced pH level raises concern about poor cardiac output and pending shock, which can be seen in cases of severe hypoxemia and/or heart failure.

Patients with methemoglobinemia typically have low oxygen saturation and normal oxygen tension. In this uncommon condition, the blood has a chocolate-brown color and does not become red when exposed to air (picture 1).

Complete blood count — Newborns with cyanosis should have a complete blood count and differential analysis, which may help differentiate CHD from noncardiac disorders. As examples, an elevated hematocrit or hemoglobin concentration identifies patients with polycythemia, whereas an elevated or decreased white blood cell count or thrombocytopenia suggests possible sepsis. (See "Neonatal polycythemia" and "Clinical features, evaluation, and diagnosis of sepsis in term and late preterm neonates", section on 'Other inflammatory markers'.)

Sepsis evaluation — Sepsis is an important consideration in the differential diagnosis of cyanosis. Newborns presenting with cyanosis should undergo a sepsis evaluation and empiric antibiotics should be administered pending culture results. The evaluation and empiric treatment of sepsis in neonates are discussed separately. (See "Clinical features, evaluation, and diagnosis of sepsis in term and late preterm neonates", section on 'Differential diagnosis' and "Management and outcome of sepsis in term and late preterm neonates", section on 'Initial empiric therapy'.)

INITIAL MANAGEMENT — Newborns with cyanosis require immediate assessment, general supportive care that maintains adequate tissue perfusion and oxygenation, and specific therapy when an underlying cause is known. Specific interventions for neonatal cyanotic congenital heart disease (CHD) include administration of prostaglandin E1 (PGE1; also referred to as alprostadil) and cardiac catheter palliative or corrective procedures.

General supportive care — Initial management begins with general care that includes cardiorespiratory support and monitoring to ensure sufficient organ/tissue perfusion and oxygenation. If there is respiratory compromise, an adequate airway should be established immediately and supportive therapy (eg, supplemental oxygen and/or mechanical ventilation) instituted as needed. Patients with hypotension or poor perfusion require cardiopulmonary resuscitation. (See "Respiratory support, oxygen delivery, and oxygen monitoring in the newborn" and "Neonatal shock: Management".)

Vital signs should be monitored and vascular access established for sampling of blood and administration of medications. Placement of secure intravenous and intra-arterial catheters is most easily accomplished via the umbilical vessels. This will enable efficient correction and monitoring of acid-base balance, metabolic derangements (eg, hypoglycemia, hypocalcemia), and blood pressure. Inotropic agents such as dopamine or dobutamine may be necessary to correct hypotension. (See "Vascular (venous) access for pediatric resuscitation and other pediatric emergencies", section on 'Umbilical vein access' and "Neonatal shock: Management", section on 'Vasoactive agents'.)

Antibiotics — Sepsis is an important consideration in the differential diagnosis of neonates presenting with cyanosis, particularly if the infant is ill-appearing. As a result, unless another specific etiology is promptly identified, broad-spectrum antibiotics should be initiated (ampicillin and gentamicin) after obtaining cultures (see 'Sepsis evaluation' above). Antibiotic therapy for suspected neonatal sepsis is discussed separately. (See "Management and outcome of sepsis in term and late preterm neonates", section on 'Initial empiric therapy'.)

Specific congenital heart disease measures — Most forms of cyanotic CHD are dependent upon a patent ductus arteriosus (PDA) for pulmonary or systemic blood flow, as summarized in the table (table 1). For infants with ductal-dependent lesions, closure of the ductus arteriosus can precipitate rapid clinical deterioration with significant life-threatening changes (ie, severe metabolic acidosis, seizures, cardiogenic shock, cardiac arrest, or end-organ injury). As a result, infants with ductal-dependent lesions are at increased risk for death and significant morbidity unless interventions are initiated to maintain patency of the ductus arteriosus for ductal-dependent lesions, ensure adequate mixing of deoxygenated and oxygenated blood, or relieve obstructed blood flow.

Prostaglandin E1 — In infants with or who have a clinical suspicion for a ductal-dependent congenital heart defect, PGE1 (alprostadil) should be administered until a definitive diagnosis or treatment is established [6].

Dose – The initial dose depends on the clinical setting:

If the ductus is known to be large, PGE1 therapy can be started at a low dose initially (0.01 mcg/kg per minute). This scenario typically is seen in patients with echocardiographic confirmation of a large PDA who are cared for in a tertiary center that provides treatment for neonates with cyanotic heart disease.

If the ductus is restrictive or the status of the ductus is unknown, the initial dose is 0.05 mcg/kg per minute. This is the standard dose used in patients who require transport to a center with expertise in the care of neonates with cyanotic heart disease.

The dose of prostaglandin can be increased as needed to a maximum dose of 0.1 mcg/kg per minute. The risk of apnea increases with increasing doses of PGE1 infusion [7-9].

Efficacy – PGE1 is an essential drug in the management of neonatal CHD. Though there are no randomized controlled trials, the available observational data overwhelmingly support the efficacy of PGE1 infusion in maintaining ductal patency in newborns with ductal-dependent circulation [10,11].

Adverse effects – Serious adverse effects of PGE1 infusion include [12]:

Apnea – Intubation equipment should be immediately available because apnea can occur at any time during infusion. The risk of apnea increases with increasing PGE1 doses [7-9].

Hypotension and tachycardia – A separate, reliable intravenous catheter should be in place to provide fluids for resuscitation.

Necrotizing enterocolitis (NEC) – Infants with cyanotic ductal-dependent lesions managed with PGE1 infusion are at increased risk of developing NEC [13,14]. The mechanism likely involves compromised mesenteric perfusion resulting from the compound effects of cyanosis and low diastolic blood pressure. Thus, NEC is not an adverse effect of PGE1 per se but rather a consequence of maintaining the patent ductus. Infants receiving PGE1 should be monitored for clinical evidence of NEC (eg, abdominal distension, bilious vomiting, bloody stools). We do not routinely withhold enteral feeds as a preventive measure in term infants receiving PGE1, since the risk of NEC does not appear to be increased with enteral feeding [15,16]. However, in some cases, it may be prudent to withhold feeds if the infant will be transported or if the airway has not been secured, given the potential need for intubation if apnea occurs. For infants who are receiving enteral feeds and develop signs of NEC, feeding should be discontinued. Diagnosis and management of NEC are discussed in greater detail separately. (See "Neonatal necrotizing enterocolitis: Clinical features and diagnosis" and "Neonatal necrotizing enterocolitis: Management and prognosis".)

Deterioration after starting PGE1 – Deterioration of the clinical status after starting PGE1 usually indicates the presence of rare congenital cardiac defects associated with pulmonary venous or left atrial obstruction. These include obstructive (usually infradiaphragmatic) total anomalous pulmonary venous connection or various conditions associated with a restrictive atrial septum (eg, hypoplastic left heart syndrome [HLHS], cor triatriatum, severe mitral stenosis or atresia, or D-transposition of the great arteries [D-TGA] associated with restrictive atrial shunting). These patients require urgent echocardiography, followed by interventional cardiac catheterization or surgery [17]. (See "Total anomalous pulmonary venous connection", section on 'Management' and "Hypoplastic left heart syndrome: Management and outcome", section on 'Initial stabilization'.)

Transport on PGE1 – When it is necessary to transfer a neonate receiving PGE1 from the birth hospital to another medical facility with pediatric cardiology expertise, the care team should anticipate the potential for apnea during transport. At the author's institution, our usual practice is to electively intubate and mechanically ventilate infants prior to transport if they are receiving PGE1 because of the risk for apnea. However, practice varies and intubation is not routinely performed by all tertiary care transport teams.

In a retrospective study of 300 infants with ductal-dependent CHD who underwent transport on PGE1, three-quarters were intubated prior to transport (42 percent electively, 27 percent because of respiratory failure that occurred prior to starting PGE1, and 5 percent because of apnea that occurred after starting PGE1) [7]. Of the 78 infants transported without first being intubated, 3 percent experienced clinically significant apnea during transport. Apnea was more likely in infants receiving a PGE1 dose of ≥0.015 mcg/kg per minute.

Cardiac catheterization — Cardiac catheter interventions can either be palliative by improving cyanosis or be corrective by relieving obstruction to flow.

Balloon atrial septostomy can relieve marked cyanosis in patients with D-TGA associated with restrictive atrial shunting and in patients with a restrictive atrial septum associated with left-sided obstructive disease. In patients with D-TGA, this procedure can be performed at the bedside under echocardiographic guidance. (See "D-transposition of the great arteries (D-TGA): Management and outcome", section on 'Balloon atrial septostomy' and "Hypoplastic left heart syndrome: Management and outcome", section on 'Initial stabilization'.)

Balloon valvuloplasty can be effective in patients with critical pulmonary stenosis or aortic stenosis. Selected patients with pulmonary atresia are also candidates for balloon valvuloplasty if the obstruction is membranous, the tricuspid annulus and right ventricular size are adequate to support a two-ventricle repair, and the coronary circulation does not depend upon the right ventricle [18]. (See "Subvalvar aortic stenosis (subaortic stenosis)".)

Transcatheter occlusion of pulmonary arteriovenous malformations can also be performed [19].

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".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or email these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword[s] of interest.)

Basics topics (see "Patient education: Total anomalous pulmonary venous connection in children (The Basics)" and "Patient education: Tetralogy of Fallot (The Basics)")

SUMMARY AND RECOMMENDATIONS

Importance – Cyanotic cardiac lesions account for approximately one-third of potentially fatal cases of congenital heart disease (CHD) (table 1). (See 'Introduction' above.)

Prenatal diagnosis – Prenatal ultrasound identifies many forms of CHD. However, some cases of cyanotic CHD are not detected prenatally, because the sensitivity of the test is highly variable and depends on operator expertise, gestational age, fetal position, and type of defect. (See "Congenital heart disease: Prenatal screening, diagnosis, and management".)

Postnatal diagnosis – In neonates with cyanotic CHD who are not identified prenatally, a clinical diagnosis may be suspected based on history, physical findings, pulse oximetry screening, chest radiography, and/or electrocardiogram (ECG) findings (table 2). The diagnosis is confirmed with echocardiography. (See 'Postnatal diagnosis' above.)

Clinical suspicion – The following findings may suggest cyanotic CHD in the newborn:

-The history may identify maternal or perinatal conditions and a family history of CHD that are risk factors for CHD (table 4). (See "Identifying newborns with critical congenital heart disease", section on 'History'.)

-The physical examination may provide information that differentiates CHD from other cyanotic disorders such as respiratory disease or sepsis and may also suggest specific cardiac defects (table 2). Physical findings associated with CHD include an abnormal heart rate, heart sounds, pathologic murmurs, blood pressure gradient between the upper and lower extremities, and hepatomegaly. (See 'Physical examination' above.)

-The routine use of pulse oximetry in the newborn period to screen for critical CHD has been shown to be effective for identifying infants who are not detected prenatally (algorithm 1). This is discussed in detail separately. (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

-A chest radiograph may help differentiate between cardiac and pulmonary etiologies for neonatal cyanosis. Abnormal findings in the lung fields are indicative of a pulmonary cause, whereas increased heart size, abnormal heart shape, and a right-sided aortic arch are suggestive of CHD. (See 'Chest radiograph' above.)

-The ECG may be normal in many cyanotic heart lesions during the neonatal period, though some lesions are associated with specific patterns as summarized in the table (table 2). (See 'Electrocardiogram' above.)

Confirming the diagnosis – Echocardiography provides a definitive diagnosis of CHD and information on cardiac anatomy and function. Echocardiography should be performed if the initial evaluation does not reveal another clear cause for the low oxygen level (eg, lung disease). Other indications for echocardiography include blood pressure or pulse differential between upper and lower extremities, cardiomegaly, or pathologic murmur. (See 'Echocardiography' above.)

Initial management – The initial management of newborns with cyanosis includes general supportive care to ensure adequate tissue perfusion and oxygenation.

For infants with ductal-dependent CHD, we recommend prostaglandin E1 (PGE1; alprostadil) administration until corrective treatment is performed (Grade 1A). If echocardiography is readily available and is performed promptly, PGE1 infusion can be started once the diagnosis of a ductal-dependent lesion is confirmed. However, if echocardiography is not readily available and there is strong clinical suspicion for ductal-dependent CHD based on the initial evaluation, PGE1 infusion should be started empirically while awaiting echocardiographic confirmation. If it is necessary to transfer a neonate with cyanotic CHD who is receiving prostaglandin infusion, the care team should anticipate the potential for apnea during transport. At the author's institution, we typically intubate and mechanically ventilate infants prior to transport in this setting. (See 'Prostaglandin E1' above.)

Some infants with cyanotic CHD may require cardiac catheter interventions. These include palliative procedures that reduce cyanosis by improved mixing of oxygenated and deoxygenated blood (eg, balloon atrial septostomy) or corrective procedures that relieve obstructive blood flow (balloon valvuloplasty). (See 'Cardiac catheterization' above.)

Because bacterial sepsis is another important cause of cyanosis in neonates, appropriate cultures should be obtained and empiric antibiotic therapy initiated until a definitive diagnosis is established. (See "Management and outcome of sepsis in term and late preterm neonates", section on 'Initial empiric therapy'.)

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

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Topic 5785 Version 34.0

References

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