Cyanotic congenital heart disease (CHD) in the newborn: Causes, evaluation, and initial management

INTRODUCTION — 

Critical congenital heart disease (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 pediatric cardiac care center are essential steps to ensuring optimal outcomes for newborns with these lesions.

This topic will review the different types of cyanotic CHD and will outline the approach to the evaluation and initial management of a newborn with suspected cyanotic CHD. Related topics include:

●(See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn".)

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

●(See "Approach to cyanosis in the newborn".)

CYANOSIS — 

Cyanosis is generally perceptible in newborns when the deoxygenated hemoglobin level in the capillary bed exceeds 3 g/dL (figure 1). Cyanosis can result from various pathologic mechanisms, including cardiac and noncardiac disorders, as summarized in the table (table 2). Noncardiac causes of cyanosis in newborns are discussed separately. (See "Approach to cyanosis in the newborn".)

Detection of cyanosis — Cyanosis may not be readily clinically apparent in patients with mild desaturation (peripheral oxygen saturation [SpO₂] >80 percent), dark skin pigmentation, or anemia. Routine pulse oximetry screening improves detection of cyanotic CHD, particularly in patients with mild hypoxemia. Newborn screening for critical CHD using pulse oximetry is discussed in detail separately. (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

Differential cyanosis — Differential cyanosis occurs in CHD lesions in which there is right-to-left shunting across the ductus arteriosus, which results in lower SpO₂ in the lower body compared with the upper body. This can occur in infants with critical coarctation of the aorta (figure 2), interrupted aortic arch (figure 3), or critical aortic stenosis. (See "Clinical manifestations and diagnosis of coarctation of the aorta" and "Valvar aortic stenosis in children".)

Differential cyanosis can also occur in newborns with structurally normal hearts who have persistent pulmonary hypertension. (See "Persistent pulmonary hypertension of the newborn (PPHN): Clinical features and diagnosis", section on 'Pre- and postductal oxygen saturation'.)

To detect differential cyanosis, the SpO₂ should be measured in both the right hand (preductal) and either foot (postductal). A difference of ≥4 percent between the pre- and postductal SpO₂ is considered clinically meaningful. The difference between pre- and postductal SpO₂ measurements may be less pronounced if there is also right-to-left shunting at the atrial level or if there is left-to-right shunting across a coexisting ventricular septal defect. (See "Newborn screening for critical congenital heart disease using pulse oximetry", section on 'Approach to screening'.)

Reversed differential cyanosis is a rare finding that may occur in patients with transposition of the great arteries (figure 4) associated with either coarctation or pulmonary hypertension. In these infants, SpO₂ is higher in the lower extremities and cyanosis is more pronounced in the upper extremities. This occurs because the most oxygenated blood is pumped by the left ventricle out to the pulmonary artery and then across the patent ductus arteriosus (PDA) to the descending aorta. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis".)

CYANOTIC CHD DEFECTS — 

A frequently used mnemonic for five of the more common cyanotic lesions is the "five T's" of CHD:

●Transposition of the great arteries, dextro type (D-TGA) (figure 4)

●Tetralogy of Fallot (TOF) (figure 5)

●Truncus arteriosus (figure 6)

●Total anomalous pulmonary venous connection (TAPVC) (figure 7)

●Tricuspid valve abnormalities (figure 8 and figure 9)

A sixth "T" is sometimes added for "Tons of other lesions," such as double-outlet right ventricle, pulmonary atresia, hypoplastic left heart syndrome (HLHS), multiple other variations of single ventricle, complex conditions associated with heterotaxy syndromes, or anomalous systemic venous connection (left superior vena cava connected to the left atrium).

Many, but not all, forms of cyanotic CHD are ductal-dependent (table 1). Ductal-dependent CHD lesions rely upon a patent ductus arteriosus (PDA) (figure 10) to supply pulmonary or systemic blood flow or to allow adequate mixing between parallel circulations. Ductal-dependent CHD lesions that are associated with right-to-left shunting across the PDA create differential cyanosis, in which the upper body is pink and the lower body is cyanotic. (See 'Differential cyanosis' above.)

Right-sided obstructive lesions — Right-sided obstructive lesions are associated with decreased pulmonary blood flow. These include the following lesions, which are discussed in detail separately:

●Tetralogy of Fallot (TOF) — The clinical presentation of TOF (figure 5) depends upon the degree of right ventricular outflow tract (RVOT) obstruction. Cyanosis is most pronounced in those with severe RVOT obstruction. (See "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis" and "Tetralogy of Fallot (TOF): Management and outcome".)

●Pulmonary atresia with intact ventricular septum (PA/IVS) – In PA/IVS, there complete obstruction of the RVOT with varying degrees of right ventricular and tricuspid valve hypoplasia (figure 11). Blood is thus unable to flow from the right ventricle to the pulmonary artery and lungs, and an alternative source of pulmonary blood flow (ie, a PDA) is required for survival. (See "Pulmonary atresia with intact ventricular septum (PA/IVS)".)

●Critical pulmonic stenosis – Neonates with critical valvular pulmonic stenosis are also dependent on a PDA for adequate pulmonary blood flow. (See "Pulmonic stenosis in infants and children: Clinical manifestations and diagnosis" and "Pulmonic stenosis in infants and children: Management and outcome".)

●Tricuspid atresia – In tricuspid atresia, there is no communication between the right atrium and right ventricle, which results in a total and obligatory right-to-left atrial shunt (figure 9). (See "Tricuspid valve atresia".)

●Severe neonatal Ebstein anomaly – Ebstein anomaly is a malformation of the tricuspid valve (figure 8). In the most severe form of this defect, the tricuspid valve is severely deformed and displaced into the RVOT. Cyanosis results from right-to-left shunting at the atrial level but typically improves as pulmonary vascular resistance decreases in the neonatal transition period. (See "Ebstein anomaly: Clinical manifestations and diagnosis" and "Ebstein anomaly: Management and prognosis".)

Left-sided obstructive lesions — Severe left-sided obstructive lesions can present in the newborn period with heart failure or cardiogenic shock accompanied by cyanosis. These lesions depend upon a PDA to supply systemic blood flow. As the ductus closes, cyanosis, pulmonary edema, metabolic acidosis, and hypotension develop (cardiogenic shock). The following left-sided obstructive lesions are discussed in detail separately.

●Hypoplastic left heart syndrome (HLHS) – HLHS consists of a number of defects involving underdevelopment of the left-sided chambers and valves (figure 12). (See "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis" and "Hypoplastic left heart syndrome: Management and outcome".)

●Critical coarctation of the aorta (CoA) – CoA is a discrete narrowing of the aorta, which typically involves a thoracic preductal location distal to the left subclavian artery (figure 2). (See "Clinical manifestations and diagnosis of coarctation of the aorta" and "Management of coarctation of the aorta".)

●Interrupted aortic arch (IAA) – IAA is the most extreme form of CoA (figure 3). Complete interruption usually occurs between the left common carotid and left subclavian arteries, but can occur distal to the left subclavian artery or between the innominate artery and left common carotid artery, and is usually associated with a large, nonrestrictive ventricular septal defect.

●Critical aortic stenosis – Critical valvular aortic stenosis results in cyanosis and heart failure or even cardiogenic shock. (See "Valvar aortic stenosis in children".)

Newborns with critically obstructive left heart lesions who have an adequate atrial septal communication and a PDA may have only mild desaturation. However, upon closure of the ductus, systemic circulation is compromised, resulting in poor peripheral perfusion (ie, cardiogenic shock) and cyanosis. Patients with a restrictive atrial communication can exhibit profound cyanosis even with a PDA.

Other cyanotic lesions

●D-transposition of the great arteries (D-TGA) — In D-TGA, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle (figure 4). This creates two parallel circulations that result in ductal-dependent cyanotic CHD. (See "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis" and "D-transposition of the great arteries (D-TGA): Management and outcome".)

●Truncus arteriosus – Truncus arteriosus is a cyanotic lesion in which a single great vessel arises from the heart, the ascending portion of which supplies the coronary arteries, aorta, and pulmonary arteries (figure 6). (See "Truncus arteriosus".)

●Total anomalous pulmonary venous connection (TAPVC) – TAPVC (also referred to as total anomalous pulmonary venous return [TAPVR]), is a cyanotic congenital defect in which all four pulmonary veins fail to make their normal connection to the left atrium (figure 7). This results in drainage of all pulmonary venous return into the systematic venous circulation. (See "Total anomalous pulmonary venous connection".)

PRENATAL DIAGNOSIS OF CHD — 

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 depends on operator expertise, gestational age, fetal position, and type of defect. As a result, some patients with cyanotic CHD will not be detected through prenatal ultrasonography screening. Prenatal screening and diagnosis are discussed in detail separately. (See "Congenital heart disease: Prenatal screening, diagnosis, and management".)

POSTNATAL EVALUATION — 

For neonates who are not identified by prenatal ultrasonography, the diagnosis of cyanotic CHD may be suspected based upon history, physical findings, pulse oximetry screening, chest radiography, and/or electrocardiogram (ECG) findings (table 3 and table 4). The diagnosis is confirmed by echocardiography.

For newborns presenting with cardiorespiratory instability that is suspected to be due to critical CHD, urgent consultation with a pediatric cardiologist is warranted. (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Referral'.)

History and physical examination — A thorough history may identify factors that are associated with increased risk of CHD (table 5), including maternal medical or prenatal conditions (eg, diabetes mellitus) or a family history of CHD. (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'History'.)

The physical examination helps to differentiate CHD from other cyanotic disorders, such as respiratory disease or sepsis, which have overlapping clinical findings. In addition, the findings on cardiac examination (quality of murmurs, characteristics of the second hear sound) may provide clues to the underlying specific cardiac defect (table 3).

A detailed description of the approach to physical examination in infants with suspected CHD is provided separately. (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Physical examination'.)

Pulse oximetry — Measuring the peripheral oxygen saturation (SpO₂) by pulse oximetry confirms the presence of clinically significant hypoxemia. The SpO₂ should be measured in both preductal (right hand) and postductal (either foot) locations. Differential cyanosis (≥4 percent difference between the pre- and postductal SpO₂) may be seen in left-sided obstructive CHD lesions such as critical aortic stenosis, coarctation of the aorta, and interrupted aortic arch.

In many birthing centers, all newborns undergo routine pulse oximetry screening prior to discharge from the birth hospitalization. The approach is summarized in the figure (algorithm 1) and discussed in detail separately. (See "Newborn screening for critical congenital heart disease using pulse oximetry".)

Initial tests — The initial tests in the diagnostic evaluation of a neonate with suspected CHD include the following, which are discussed in detail separately:

●Electrocardiogram (ECG) – The ECG may be normal in many cyanotic CHD lesions during the neonatal period. However, some lesions are associated with specific patterns (table 3). (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Electrocardiogram'.)

●Measurement of upper and lower extremity blood pressure (BP) – A systolic BP gradient of ≥10 mmHg between the arms and legs (ie, BP in the arms ≥10 mmHg higher than in the legs) suggests coarctation of the aorta or interrupted aortic arch. However, a gradient may not be detected in these disorders if the ductus arteriosus is widely patent. (See "Clinical manifestations and diagnosis of coarctation of the aorta".)

●Chest radiograph – When evaluating the chest radiograph in a newborn with suspected cardiac disease, the clinician should assess the size and shape of the cardiac silhouette, pulmonary vascular markings, and situs of the aortic arch (table 3). Some cyanotic CHD defects have characteristic heart shape on chest radiograph (eg, boot-shaped heart ["coeur en sabot"] in tetralogy of Fallot [TOF] (image 1) and "egg-on-a-string" appearance in D-TGA). (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Chest radiograph'.)

Historically, hyperoxia testing (ie, assessing the newborn's response to administration of 100 percent inspired oxygen) 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. However, hyperoxia testing may be useful in some settings, particularly if echocardiography is not readily available. The hyperoxia test is summarized in the table (table 6), and discussed in greater detail separately. (See "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Hyperoxia test'.)

Evaluation for other causes of cyanosis — In addition to the cardiac evaluation, neonates with cyanosis should undergo evaluation for other potential causes. The approach to evaluating neonates with cyanosis is discussed separately. (See "Approach to cyanosis in the newborn", section on 'Evaluation'.)

In most cases, it is appropriate to perform a sepsis evaluation and administer empiric antibiotics pending culture results. The evaluation and empiric treatment of sepsis in neonates are discussed separately. (See "Neonatal bacterial sepsis: Clinical features and diagnosis in neonates born at or after 35 weeks gestation", section on 'Evaluation and initial management'.)

Echocardiography — The definitive diagnosis of CHD is made with transthoracic echocardiography, including two-dimensional imaging and pulsed and color Doppler interrogation of flow patterns. Echocardiography provides detailed information on cardiac anatomy and function.

Echocardiography should be performed if the initial evaluation does not reveal another clear cause for the cyanosis (eg, lung disease) or if there are findings that suggest cardiac disease (eg, differential cyanosis, blood pressure or pulse differential between upper and lower extremities, pathologic murmur, cardiomegaly on chest radiograph).

Echocardiographic findings of specific cyanotic CHD lesions are described in separate topic reviews:

●Coarctation of the aorta (see "Clinical manifestations and diagnosis of coarctation of the aorta", section on 'Echocardiography')

●Critical aortic stenosis (see "Valvar aortic stenosis in children", section on 'Echocardiography')

●Hypoplastic left heart syndrome (HLHS) (see "Hypoplastic left heart syndrome: Anatomy, clinical features, and diagnosis", section on 'Echocardiography')

●TOF (see "Tetralogy of Fallot (TOF): Pathophysiology, clinical features, and diagnosis", section on 'Echocardiography')

●TOF with pulmonary atresia (see "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries (TOF/PA/MAPCAs)", section on 'Echocardiography')

●Pulmonary atresia with intact ventricular septum (see "Pulmonary atresia with intact ventricular septum (PA/IVS)", section on 'Echocardiography')

●Critical pulmonic stenosis (see "Pulmonic stenosis in infants and children: Clinical manifestations and diagnosis", section on 'Echocardiography')

●Tricuspid atresia (see "Tricuspid valve atresia", section on 'Echocardiography')

●Ebstein anomaly (see "Ebstein anomaly: Clinical manifestations and diagnosis", section on 'Echocardiography')

●D- transposition of the great arteries (see "D-transposition of the great arteries (D-TGA): Anatomy, clinical features, and diagnosis", section on 'Echocardiography')

●Total anomalous pulmonary venous connection (TAPVC) (see "Total anomalous pulmonary venous connection", section on 'Echocardiography')

●Truncus arteriosus (see "Truncus arteriosus", section on 'Postnatal diagnosis')

INITIAL MANAGEMENT — 

Newborns with suspected cyanotic CHD require immediate assessment and general supportive care to maintain adequate tissue perfusion and oxygenation (table 4). Specific interventions for neonatal cyanotic CHD include administration of prostaglandin E1 (PGE1; also referred to as alprostadil) and transcatheter intervention.

Setting of care — Neonates with cyanotic CHD should be managed in a neonatal intensive care unit (NICU) or cardiac care unit at a center with appropriate resources and expertise in managing complex CHD. For pregnancies in which CHD is diagnosed prenatally, delivery should be planned at a facility with the appropriate level of care for the neonate (ie, a facility with a level III NICU and pediatric cardiology expertise). If this is not feasible, transport arrangements should be established in advance of the delivery. (See "Congenital heart disease: Prenatal screening, diagnosis, and management", section on 'Delivery planning'.)

If the diagnosis was not known prenatally and the birth hospital lacks the appropriate resources, transport arrangements should be made as soon as the diagnosis is suspected. In many instances, it is necessary to perform initial interventions at the birth hospital prior to transport (eg, obtaining vascular access, starting vasoactive medications and/or PGE1 infusion). These decisions are generally made in consultation with the medical team at the accepting hospital.

General supportive care — Initial management begins with general care that includes cardiorespiratory support and monitoring to ensure sufficient organ/tissue perfusion and oxygenation.

●Respiratory support – For patients with respiratory compromise, appropriate supportive respiratory care should be provided. Intubation and mechanical ventilation may be necessary in patients with respiratory failure. (See "Respiratory support, oxygen delivery, and oxygen monitoring in the newborn" and "Overview of mechanical ventilation in neonates".)

●Management of shock – Patients with hypotension or poor perfusion may require inotropic agents (eg, dopamine, epinephrine). (See "Neonatal shock: Management", section on 'Vasoactive agents'.)

●Vascular access and monitoring – Continuous cardiac, respiratory, and pulse oximetry monitoring is appropriate for most neonates with suspected cyanotic CHD. Vascular access should be established for sampling of blood and administration of medications. In newborns, placement of intravenous and intra-arterial catheters is most easily accomplished via the umbilical vessels. (See "Emergency and elective venous access in children", section on 'Emergency umbilical vein catheterization'.)

●Correction of electrolyte, metabolic, and acid-base disturbances – Serum electrolytes, glucose, and pH should be measured and metabolic derangements (eg, hypoglycemia, hypocalcemia, acid-base disturbance) should be corrected. (See "Neonatal hypocalcemia", section on 'Management' and "Management and outcome of neonatal hypoglycemia" and "Approach to the child with metabolic acidosis", section on 'Treatment'.)

●Empiric antibiotic therapy – 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 (ampicillin and gentamicin) should be initiated after obtaining cultures. Antibiotic therapy for suspected neonatal sepsis is discussed separately. (See "Neonatal bacterial sepsis: Treatment, prevention, and outcome in neonates born at or after 35 weeks gestation", section on 'Initial empiric therapy'.)

Prostaglandin E1

Indications and rationale — PGE1 (alprostadil) therapy is an appropriate temporizing measure pending definitive surgical or transcatheter intervention in the following circumstances [1]:

●If a ductal-dependent CHD lesion is confirmed on echocardiography, PGE1 infusion should be started promptly.

●If there is strong clinical suspicion for ductal-dependent CHD but echocardiography is not readily available, PGE1 infusion should be started empirically while awaiting echocardiographic confirmation.

Most forms of cyanotic CHD depend upon a patent ductus arteriosus (PDA) for pulmonary or systemic blood flow. Ductal-dependent CHD lesions are summarized in the table (table 1). For infants with ductal-dependent lesions, closure of the ductus can precipitate rapid clinical deterioration with significant life-threatening changes (ie, severe metabolic acidosis, seizures, cardiogenic shock, cardiac arrest, or end-organ injury). PGE1 therapy maintains patency of the ductus arteriosus thereby providing critical pulmonary or systemic blood flow. It is a temporizing measure that stabilizes the neonate until more definitive surgical or transcatheter intervention can be performed.

Dose — The initial dose of intravenous (IV) PGE1 (alprostadil) 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) [2,3]. 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 CHD.

●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 CHD.

The dose of PGE1 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 [2,4,5].

Efficacy — PGE1 is an essential drug in the management of CHD in the newborn. 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 CHD [6-8].

Adverse effects — Most adverse effects of PGE1 infusion are dose-dependent [9]:

●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 [2,4,5]. For neonates requiring transport while receiving PGE1 infusion, intubation should be considered prior to transport, as discussed below. (See 'Transport on PGE1' below.)

●Vasodilation and hypotension – Hypotension usually can be corrected with volume expansion using IV isotonic saline. Neonates receiving PGE1 infusion should have a separate, reliable intravenous catheter in place for this purpose.

●Fever – Fever is common in neonates receiving PGE1 therapy, especially at higher doses [3]. It can be difficult to distinguish drug-related fever from infection. Thus, all neonates should receive broad-spectrum antibiotics after obtaining cultures, as discussed above. (See 'General supportive care' above.)

●Necrotizing enterocolitis (NEC) – Infants with cyanotic ductal-dependent lesions managed with PGE1 infusion are at increased risk of developing NEC [10-12]. 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 [13,14]. 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 a rare congenital cardiac defect 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. (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) [4]. 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.

Transcatheter intervention — Some neonates may require transcatheter intervention for initial stabilization. Transcatheter interventions may be directed at improving mixing or relieving obstruction to flow.

Balloon atrial septostomy — Balloon atrial septostomy (BAS) is a transcatheter procedure that improves intracardiac mixing by enlarging the atrial septal communication (figure 13). It is most commonly performed in patients with D-TGA and in those with left-sided obstructive lesions (eg, HLHS) who have an intact or restrictive atrial septum. Patients with these conditions can have profound cyanosis due to insufficient atrial mixing. BAS improves oxygen saturation and provides stability until a more definitive intervention is performed. (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'.)

BAS can be performed at the bedside under echocardiographic guidance or in the cardiac catheterization laboratory with the use of both fluoroscopy and echocardiography [15]. Central venous access is typically obtained through the umbilical or femoral vein. A balloon catheter is advanced through the inferior vena cava into the right atrium and then advanced through the patent foramen ovale into the left atrium. The balloon is then inflated and pulled vigorously back across the atrial septum. This enlarges the atrial communication and improves intracardiac mixing. The procedure is repeated at least once, and then echocardiographic and hemodynamic assessments are performed to ensure adequate intracardiac mixing. If the procedure is successful, systemic oxygen saturation should begin to increase immediately.

Balloon valvuloplasty — Transcatheter balloon valvuloplasty can be lifesaving in patients with critical aortic or pulmonic valve stenosis, as discussed separately. (See "Pulmonic stenosis in infants and children: Management and outcome", section on 'Critical pulmonic stenosis' and "Valvar aortic stenosis in children", section on 'First-line treatment (balloon aortic valvotomy)'.)

Selected patients with pulmonary atresia with intact ventricular septum (PA/IVS) 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. (See "Pulmonary atresia with intact ventricular septum (PA/IVS)", section on 'Biventricular repair'.)

Ductal stenting — Ductal stenting refers to transcatheter insertion of a stent to maintain patency of the ductus arteriosus. In many centers, this procedure is used as a temporizing measure for neonates with certain cyanotic CHD defects that are associated with ductal-dependent pulmonary blood flow (eg, PA/IVS, severe forms of tetralogy of Fallot [TOF]) [16]. In experienced centers, this procedure has become an attractive alternative to early neonatal surgical repair or palliation. The use of ductal stenting in neonates with PA/IVS or TOF is discussed separately. (See "Pulmonary atresia with intact ventricular septum (PA/IVS)", section on 'Types of repair/palliation' and "Tetralogy of Fallot (TOF): Management and outcome", section on 'Ductal or RVOT stenting'.)

In addition, ductal stenting is sometimes performed for initial palliation of hypoplastic left heart syndrome in neonates who undergo a hybrid stage I procedure (figure 14), as discussed separately. (See "Hypoplastic left heart syndrome: Management and outcome", section on 'Stage I hybrid procedure'.)

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 5^th to 6^th 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 10^th to 12^th 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 – Critical congenital heart disease (CHD) is defined as lesions requiring surgery or catheter-based intervention in the first year of life. Many but not all critical CHD defects are associated with cyanosis (table 1). Early recognition, emergency stabilization, and transport to an appropriate pediatric cardiac care center are essential steps to ensuring optimal outcomes for newborns with these lesions. (See 'Introduction' above.)

●Cyanotic CHD lesions – A mnemonic for the more common cyanotic CHD defects is the "five T's" (see 'Cyanotic CHD defects' above):

•Transposition of the great arteries, dextro type (D-TGA) (figure 4)

•Tetralogy of Fallot (TOF) (figure 5)

•Truncus arteriosus (figure 6)

•Total anomalous pulmonary venous connection (TAPVC) (figure 7)

•Tricuspid valve abnormalities (figure 9 and figure 8)

A sixth "T" is sometimes added for "Tons of other lesions" (eg, double-outlet right ventricle, pulmonary atresia, hypoplastic left heart syndrome [HLHS], other variants of single ventricle, heterotaxy, anomalous systemic venous connection).

●Prenatal diagnosis – While prenatal screening detects many cases of CHD, its sensitivity depends on operator expertise, gestational age, fetal position, and type of defect. As a result, some patients with cyanotic CHD will not be detected through prenatal ultrasonography screening. Prenatal screening and diagnosis are discussed in detail separately. (See "Congenital heart disease: Prenatal screening, diagnosis, and management".)

●Postnatal diagnosis – For neonates with cyanotic CHD who are not identified prenatally, the diagnosis may be suspected based upon history, physical findings, pulse oximetry screening, chest radiography, and/or electrocardiography (ECG) (table 3). The diagnosis is confirmed with echocardiography. (See 'Postnatal evaluation' above and "Evaluation of suspected critical congenital heart disease (CHD) in the newborn", section on 'Diagnostic approach'.)

●Initial management – Neonates with cyanotic CHD should be managed in a neonatal intensive care unit (NICU) or cardiac care unit at a center with appropriate resources and expertise in managing complex CHD. (See 'Initial management' above.)

•Supportive care – Initial supportive management includes (table 4) (see 'General supportive care' above):

-Respiratory support (see "Respiratory support, oxygen delivery, and oxygen monitoring in the newborn" and "Overview of mechanical ventilation in neonates")

-Management of shock, which may require inotropic agents (eg, dopamine or epinephrine) (see "Neonatal shock: Management", section on 'Vasoactive agents')

-Vascular access and monitoring (see "Emergency and elective venous access in children", section on 'Emergency umbilical vein catheterization')

-Correction of electrolyte, metabolic, and acid-base disturbances (see "Neonatal hypocalcemia", section on 'Management' and "Management and outcome of neonatal hypoglycemia" and "Approach to the child with metabolic acidosis", section on 'Treatment')

-Empiric antibiotic therapy since sepsis is an important consideration in the differential diagnosis (see "Neonatal bacterial sepsis: Treatment, prevention, and outcome in neonates born at or after 35 weeks gestation", section on 'Initial empiric therapy')

•Prostaglandin E1 (PGE1) infusion – For infants with ductal-dependent CHD, we recommend PGE1 (alprostadil) administration until definitive surgical or transcatheter intervention 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. (See 'Prostaglandin E1' above.)

•Transport – If the hospital lacks the appropriate resources to manage newborns with cyanotic CHD, transport arrangements should be made as soon as the diagnosis is suspected. When transporting a neonate with cyanotic CHD who is receiving PGE1 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. However, practice varies and other tertiary care transport teams may not routinely intubate all neonates in this setting. (See 'Transport on PGE1' above.)

•Transcatheter intervention – Some infants with cyanotic CHD may require transcatheter intervention for stabilization (eg, balloon atrial septostomy [BAS] or balloon valvuloplasty). (See 'Transcatheter intervention' above.)

-BAS improves intracardiac mixing by enlarging the atrial communication (figure 13). It is most commonly performed in patients with D-TGA and in those with left-sided obstructive lesions (eg, HLHS) who have an intact or restrictive atrial septum. (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 lifesaving in patients with critical aortic or pulmonary stenosis, as discussed separately. (See "Pulmonic stenosis in infants and children: Management and outcome", section on 'Critical pulmonic stenosis'.)

ACKNOWLEDGMENT — 

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