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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a congenital heart defect present at birth, characterized by four specific structural abnormalities: a ventricular septal defect (VSD), which is a hole between the right and left ventricles; pulmonary stenosis, a narrowing of the pulmonary valve and outflow tract; right ventricular hypertrophy, or thickening of the right ventricle wall; and an overriding aorta, where the aorta is positioned over both ventricles rather than solely over the left.^[1]^[2] These defects collectively obstruct blood flow to the lungs and allow oxygen-poor blood to mix with oxygen-rich blood, leading to reduced oxygen levels in the bloodstream and cyanosis, or bluish discoloration of the skin.^[3] TOF accounts for approximately 5% to 7% of all congenital heart defects and is the most common form of cyanotic congenital heart disease, with an incidence of about 1 in 2,500 to 3,700 live births worldwide.^[3]^[4] The condition arises during fetal heart development, typically between weeks 4 and 7 of gestation, due to abnormal migration of neural crest cells that contribute to the formation of the heart's outflow tracts.^[3] Genetic factors play a significant role, with associations to chromosomal abnormalities such as trisomy 21 (Down syndrome), 22q11 deletion (DiGeorge syndrome), and mutations in genes like NKX2.5 or GATA4; however, in most cases, no specific genetic cause is identified, and environmental influences like maternal diabetes or rubella infection may contribute.^[5]^[6] Infants with TOF often present with symptoms shortly after birth, including cyanosis that worsens with crying or feeding, known as "tet spells" or hypercyanotic episodes, fatigue, poor growth, and a heart murmur detectable on physical exam.^[1]^[2] Diagnosis is typically confirmed through echocardiography, which visualizes the four defects, often supplemented by chest X-rays showing a characteristic "boot-shaped" heart silhouette, electrocardiograms indicating right ventricular hypertrophy, and sometimes cardiac MRI or catheterization for detailed assessment.^[3]^[7] Treatment is primarily surgical, with complete repair usually performed in infancy—ideally between 3 and 6 months of age— involving closure of the VSD and widening of the pulmonary outflow tract to improve blood flow; palliative procedures like the Blalock-Taussig shunt may be used temporarily in severe cases to increase pulmonary blood flow.^[4]^[6] With modern surgical interventions, long-term survival exceeds 95%, though patients require lifelong follow-up for potential complications such as arrhythmias, residual pulmonary regurgitation, or right ventricular dysfunction.^[3]^[5]

Clinical Presentation

General Signs and Symptoms

Tetralogy of Fallot typically presents in infancy with progressive cyanosis, manifesting as a bluish or grayish discoloration of the skin, mucous membranes, and nail beds, resulting from right-to-left shunting of deoxygenated blood across the ventricular septal defect.^[1]^[3] This cyanosis often intensifies during activities such as crying, feeding, or exertion, which increase oxygen demand and augment the shunt.^[1]^[8] In older untreated children, chronic hypoxia leads to digital clubbing of the fingers and toes.^[5]^[8] Ambulatory children frequently assume a squatting position after physical activity to relieve dyspnea, as this posture compresses femoral arteries, elevating systemic vascular resistance and diminishing right-to-left shunting.^[8]^[3] Growth delays and feeding difficulties are common in affected infants, stemming from tachypnea, increased metabolic demands, and fatigue during meals, often resulting in failure to thrive.^[1] Exertional dyspnea further contributes to easy fatigability and limited physical tolerance in children.^[1]^[8] Physical examination reveals a single second heart sound, attributable to anterior aortic displacement overriding the septum, along with a harsh systolic ejection murmur at the left upper sternal border due to right ventricular outflow tract obstruction from pulmonary stenosis.^[3]^[9] The intensity and onset of symptoms vary according to the severity of right ventricular outflow tract obstruction; mild cases may initially appear acyanotic ("pink tet"), with cyanosis emerging later, whereas severe obstruction causes marked cyanosis from birth.^[3]^[9]

Hypercyanotic "Tet" Spells

Hypercyanotic "Tet" spells are acute, life-threatening episodes of severe cyanosis that occur in infants and young children with unrepaired Tetralogy of Fallot, resulting from a sudden increase in right-to-left shunting across the ventricular septal defect. These spells are characterized by profound desaturation, hyperpnea (deep and rapid breathing), and tachypnea, often leading to a decrease in systemic arterial oxygen saturation and potential loss of consciousness.^[3]^[10] Triggers for Tet spells typically involve events that elevate oxygen demand or provoke dynamic changes in the right ventricular outflow tract, such as crying, feeding, defecation, fever, exertion, or dehydration. These activities can induce a catecholamine surge, causing infundibular spasm and further obstruction of pulmonary blood flow, while decreased systemic vascular resistance or increased pulmonary vascular resistance may also contribute to the acute shunting.^[11]^[1]^[12] Clinically, Tet spells often begin with irritability and prolonged crying, progressing to deep cyanosis of the skin, lips, and nails, along with rapid breathing and hyperpnea. Affected children may exhibit hypotonia or limpness, and severe episodes can involve seizures, syncope, or even cardiopulmonary arrest due to profound hypoxia and metabolic acidosis.^[10]^[3]^[13] The pathophysiology centers on a dynamic worsening of the right ventricular outflow tract obstruction (RVOTO), where infundibular hypercontractility reduces pulmonary blood flow, increasing the proportion of deoxygenated blood entering the systemic circulation via the shunt. Hypoxia from this shunting stimulates further hyperpnea and catecholamine release, creating a self-perpetuating cycle that intensifies the cyanosis and hemodynamic instability.^[14]^[12]^[11] Tet spells occur in infants with unrepaired Tetralogy of Fallot, most commonly within the first two years of life, and were historically a primary driver of mortality that spurred the development of early palliative surgical techniques in the mid-20th century. The term "Tet spells" originated from the condition's nomenclature.^[3]^[12]^[10]

Etiology

Genetic Factors

Tetralogy of Fallot (TOF) exhibits significant genetic heterogeneity, with chromosomal abnormalities playing a prominent role in its etiology. The most common genetic associations include 22q11.2 deletion syndrome, also known as DiGeorge syndrome, which accounts for approximately 15% of TOF cases, and trisomy 21 (Down syndrome), accounting for about 7% of cases. This microdeletion disrupts genes critical for cardiac neural crest cell migration and conotruncal septation during embryogenesis.^[15] Beyond 22q11.2 deletions, mutations in several transcription factors and signaling pathway genes contribute to TOF. Heterozygous loss-of-function mutations in NKX2.5 and GATA4, which regulate cardiac morphogenesis, have been identified in familial and sporadic cases. TBX1 mutations, often within the 22q11.2 region, impair outflow tract development, while JAG1 mutations link TOF to Alagille syndrome through Notch pathway dysregulation. De novo mutations are common in these genes, reflecting the frequent sporadic nature of TOF as a conotruncal defect arising from aberrant neural crest cell contributions to the embryonic conotruncus.^[16]^[17] Familial recurrence of TOF is relatively low but notable, with an empiric risk of 2-5% among siblings of affected individuals, influenced by autosomal dominant inheritance patterns with variable expressivity. Risks are elevated in consanguineous families, where shared genetic backgrounds amplify recessive contributions, increasing CHD susceptibility by 2-2.5 times compared to non-consanguineous populations.^[18]^[19] In non-syndromic TOF, comprising about 80% of cases, the genetic architecture is polygenic, involving multiple low-penetrance variants across cardiogenic pathways with incomplete penetrance, often requiring environmental modifiers for phenotype expression. Advances in whole exome sequencing have accelerated the discovery of novel variants, such as those in ciliary genes and GATA family members, enhancing understanding of TOF's complex inheritance as of 2025.^[20]^[21]

Environmental and Nongenetic Factors

Maternal pregestational diabetes represents a significant nongenetic risk factor for Tetralogy of Fallot (TOF), with meta-analyses showing an increased odds ratio of approximately 3 to 5 for affected offspring compared to those born to nondiabetic mothers. This association is attributed to hyperglycemia-induced teratogenic effects during cardiogenesis, particularly in the first trimester, disrupting embryonic cardiac development.^[22]^[23] Exposure to specific teratogens in early pregnancy also contributes to TOF risk. Retinoic acid, a derivative found in certain medications like isotretinoin, is a potent teratogen linked to conotruncal anomalies including TOF through interference with neural crest cell migration essential for outflow tract formation. Untreated maternal phenylketonuria (PKU) elevates the risk of congenital heart defects by more than sixfold, with TOF frequently observed among the cardiovascular malformations in offspring due to hyperphenylalaninemia's toxic effects on fetal development. Prenatal alcohol exposure has been implicated as a weaker but potential risk factor, potentially exacerbating cardiac septation errors, though evidence remains inconsistent across studies.^[24]^[25]^[24]^[26] Multifetal pregnancies, such as twins, confer an elevated risk for TOF, with studies indicating up to a twofold increase compared to singletons, possibly stemming from altered intrauterine hemodynamics or shared environmental exposures. Intrauterine growth restriction (IUGR), often resulting from maternal conditions like hypertension or malnutrition, is associated with higher TOF incidence, as growth-impairing factors may coincide with or exacerbate vulnerabilities in cardiac morphogenesis. Regarding infections, no robust contemporary links exist, but historical data highlight maternal rubella as a notable risk during the first trimester, prompting congenital rubella syndrome with TOF in up to 10% of cases; widespread vaccination has since minimized this threat.^[27]^[28]^[24] Gene-environment interactions further underscore nongenetic influences, particularly folate deficiency modulating genetic predispositions; for example, MTHFR gene variants heighten TOF risk in the context of low periconceptional folate intake by impairing one-carbon metabolism critical for DNA synthesis and epigenetic regulation during embryogenesis. Epidemiological data indicate stable TOF incidence rates worldwide, around 1 in 2,500 to 3,700 live births as of 2025, though enhanced prenatal care practices such as folic acid supplementation, rigorous maternal diabetes management, and rubella immunization may contribute to reductions in overall congenital heart defect risks.^[29]^[4]

Pathophysiology

The Four Core Malformations

Tetralogy of Fallot is defined by four interrelated anatomical malformations that disrupt normal cardiac outflow and septation: a ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta. These defects arise from abnormal development of the conotruncal region during embryogenesis and collectively lead to a characteristic pathophysiology, though their severity can vary.^[3] The ventricular septal defect (VSD) is typically large and non-restrictive, often of the perimembranous or malalignment type, involving the anterior superior portion of the interventricular septum due to anterior deviation of the conoseptal insertional point. This defect allows unrestricted mixing of oxygenated and deoxygenated blood between the ventricles, contributing to the cyanotic nature of the condition in severe cases.^[3]^[9] Pulmonary stenosis, the second core feature, involves obstruction of the right ventricular outflow tract (RVOT), which can occur at valvular, subvalvular (infundibular), or supravalvular levels; the infundibular type is most common and results from hypertrophy of the subaortic conal septum encroaching on the RVOT. This obstruction impedes blood flow to the pulmonary arteries, increasing right ventricular pressure and promoting right-to-left shunting across the VSD.^[3]^[12] Right ventricular hypertrophy develops as a secondary response to the chronic pressure overload caused by pulmonary stenosis, leading to concentric thickening of the right ventricular wall, often with anteroseptal extension that exacerbates RVOT narrowing. In classic cases, the hypertrophy is evident at birth but worsens over time without intervention.^[30]^[3] The overriding aorta is positioned directly over the VSD, typically overriding by about 50% or more, such that its root receives ejected blood from both the left and right ventricles, altering the normal left ventricular exclusive origin. This malposition results from incomplete rotation and septation of the truncus arteriosus during development.^[12]^[9] Embryologically, these malformations originate from defective migration and contribution of cardiac neural crest cells to the outflow tract septation process, leading to malalignment of the conotruncal septum and abnormal partitioning of the truncus arteriosus into the aorta and pulmonary trunk. This neural crest dysfunction disrupts the normal spiraling septation, causing anterior displacement of the aorta and infundibular hypoplasia.^[31] The presentation of these core defects exhibits variability; in milder forms known as "pink tet," the degree of pulmonary stenosis is minimal, resulting in sufficient pulmonary blood flow and absence of cyanosis at rest, with left-to-right shunting predominating initially. In contrast, severe obstruction leads to profound cyanosis from early infancy.^[32]

Associated Anomalies

In addition to the four core malformations, Tetralogy of Fallot (TOF) is frequently associated with various anatomical variations that influence diagnostic and surgical approaches. One common anomaly is a right aortic arch, occurring in approximately 20% to 25% of cases.^[3] This variant often coexists with an aberrant left subclavian artery, which arises from a diverticulum of Kommerell and may contribute to vascular ring formation, though it is present in about 13% to 20% of right aortic arch cases in TOF.^[33] Preoperative imaging, such as echocardiography or computed tomography angiography, is essential to identify these arch anomalies, as they can affect surgical access and require modifications like vascular ring division.^[34] Coronary artery anomalies represent another significant associated feature in TOF, with a prevalence ranging from 5% to 12%.^[35] The most frequent pattern involves the left anterior descending artery originating from the right coronary cusp or artery, potentially crossing the right ventricular outflow tract (RVOT) in up to 72% of anomalous cases.^[36] These anomalies complicate surgical repair by necessitating alternative RVOT reconstruction techniques, such as avoiding incision through the crossing vessel, which can increase the risk of reoperation if not precisely mapped preoperatively via angiography or cardiac magnetic resonance imaging.^[3] Atrial-level communications, including atrial septal defect (ASD) or patent foramen ovale (PFO), occur in 10% to 15% of TOF patients, sometimes defining the pentalogy of Fallot variant when an ASD is present alongside the core defects.^[37] These shunts can alter intracardiac flow dynamics but are typically addressed during complete repair to prevent long-term complications like right-to-left shunting persistence. Venous anomalies, such as persistent left superior vena cava (PLSVC), are observed in approximately 11.5% of TOF cases, often draining into the coronary sinus and requiring ligation or rerouting during surgery to avoid postoperative arrhythmias or cyanosis.^[38] Other venous variants, including bilateral superior vena cava, may coexist but are less common, with an overall prevalence of systemic venous anomalies around 10% to 12% in this population.^[39] A notable variant is absent pulmonary valve syndrome, accounting for 3% to 6% of TOF cases, characterized by rudimentary or absent pulmonary valve leaflets leading to severe regurgitation and aneurysmal pulmonary arteries.^[40] This form demands specialized surgical strategies, such as pulmonary artery reduction plasty, to mitigate airway compression and ventricular dysfunction.^[41]

Hemodynamic Consequences

In Tetralogy of Fallot, the hemodynamic consequences stem from the interplay of the large ventricular septal defect (VSD) and right ventricular outflow tract obstruction (RVOTO), which disrupts normal pulmonary blood flow. The VSD permits pressure equalization between the ventricles, but the RVOTO elevates right ventricular pressure to systemic levels, directing a significant portion of deoxygenated blood through a right-to-left shunt into the overriding aorta. This qualitative imbalance in shunt fraction—predominantly right-to-left—bypasses the pulmonary circulation, resulting in systemic desaturation and cyanosis.^[3]^[10] The severity of these effects varies with the degree of RVOTO and relative vascular resistances. At rest, systemic oxygen saturation typically ranges from 75% to 85%, reflecting reduced but balanced pulmonary perfusion; however, during stress, saturation can decline sharply as dynamic worsening of RVOTO or transient increases in pulmonary vascular resistance amplify the shunt. In severe cases, chronic exposure to low pulmonary flow may elevate pulmonary vascular resistance, further limiting oxygenation and exacerbating right-to-left shunting.^[42]^[10]90018-9/fulltext) The RVOTO also imposes chronic pressure overload on the right ventricle, prompting concentric hypertrophy to maintain ejection against obstruction. Prolonged overload can lead to eventual right ventricular dilation and impaired function, particularly in unrepaired cases. Eisenmenger syndrome, involving fixed pulmonary hypertension and irreversible shunt reversal, remains rare if repair occurs early, as the inherent RVOTO protects against excessive pulmonary overcirculation.^[3]^[43]^[44]

Diagnosis

Prenatal Detection

Prenatal detection of Tetralogy of Fallot (TOF) primarily occurs through fetal echocardiography performed during routine anomaly scans between 18 and 22 weeks of gestation. These scans evaluate key cardiac structures, identifying hallmark features such as a large ventricular septal defect (VSD) and an overriding aorta, where the aortic root straddles the interventricular septum above both ventricles. The four-chamber view and outflow tract assessments are critical, as the overriding aorta may appear as an enlarged vessel crossing the septum, while the VSD presents as a perimembranous or malalignment defect.^[45]^[46] The sensitivity of routine prenatal screening for TOF ranges from 50% to 70%, with detection rates reaching 50-60% in general practice and higher—up to 70%—in specialized centers with experienced sonographers. Factors influencing accuracy include fetal position, maternal body habitus, and the subtlety of right ventricular outflow tract obstruction in early gestation. Associated findings, such as polyhydramnios, may occur in cases of severe pulmonary obstruction, particularly with variants like absent pulmonary valve syndrome, due to impaired swallowing from tracheobronchial compression by dilated pulmonary arteries.^[47]^[48]^[49] Upon detection, multidisciplinary counseling involving fetal cardiologists, geneticists, neonatologists, and maternal-fetal medicine specialists is essential to discuss prognosis, potential genetic associations, and delivery planning, often at a tertiary fetal care center. Prognosis is generally favorable with postnatal surgical intervention, but counseling addresses risks like associated extracardiac anomalies in up to 50% of cases. Advances in 3D/4D fetal echocardiography, including spatiotemporal image correlation (STIC) technology, have enhanced visualization of complex spatial relationships in TOF as of 2025, improving diagnostic confidence and reducing operator dependency.^[50]^[51]^[52] False positives in prenatal TOF diagnosis can arise from transient physiological shunts, such as small ventricular septal defects that resolve spontaneously after birth, mimicking the persistent VSD of true TOF. These errors, occurring in about 0.07% of screened pregnancies, underscore the need for confirmatory postnatal echocardiography to distinguish pathological from benign findings.^[53]^[54]

Postnatal Clinical Assessment

Upon delivery, a thorough history is essential for newborns suspected of having Tetralogy of Fallot (TOF). Prenatal diagnosis through fetal echocardiography, if available, guides immediate postnatal planning, as approximately 50% of cases are detected in utero.^[12] Family history is pertinent, given the 2-5% recurrence risk in siblings and associations with genetic syndromes in up to 30% of cases.^[1] Inquiry into cyanotic episodes at birth or shortly thereafter is critical, though many infants present with mild or absent cyanosis initially, with symptoms often emerging in the first weeks of life.^[3] Physical examination in the newborn focuses on identifying key features of TOF. Central cyanosis, manifesting as bluish discoloration of the lips, tongue, and mucous membranes, is a hallmark sign, present in varying degrees depending on the severity of right ventricular outflow tract obstruction.^[4] A harsh systolic ejection murmur, best heard at the left upper sternal border, results from turbulent flow across the stenotic pulmonary valve or infundibulum.^[7] Differential cyanosis, characterized by lower body desaturation relative to the upper body, is typically absent in TOF due to complete intracardiac mixing of oxygenated and deoxygenated blood.^[55] Initial bedside assessments include pulse oximetry to quantify hypoxemia. Measurements are taken preductally (right hand) and postductally (foot), with a saturation difference of less than 5% expected in TOF, reflecting balanced shunting without significant ductal dependency in most cases.^[56] Oxygen saturations below 95% in either site prompt further evaluation, as routine newborn screening detects up to 70% of critical TOF cases.^[57] The hyperoxia test serves to differentiate cardiac from pulmonary causes of cyanosis. The infant breathes 100% oxygen for 10-15 minutes, followed by arterial blood gas analysis; a partial pressure of oxygen (PaO2) remaining below 150 mmHg indicates a fixed right-to-left shunt consistent with cyanotic congenital heart disease like TOF.^[58] Differential diagnosis encompasses other cyanotic congenital heart defects, such as transposition of the great arteries, which may present with more profound early cyanosis and a single loud second heart sound, or total anomalous pulmonary venous return, often accompanied by respiratory distress.^[58] If TOF is suspected based on history, examination, or screening tests, an echocardiogram should be performed urgently, ideally within 24 hours, to confirm the diagnosis and assess anatomy.^[7]

Imaging Techniques

Chest X-ray is often the initial imaging modality in suspected cases of Tetralogy of Fallot (TOF), revealing a characteristic "boot-shaped" heart, or coeur en sabot, due to right ventricular hypertrophy (RVH) and a concave pulmonary artery segment with uplifted apex.^[3] This appearance results from the enlarged right ventricle and diminished pulmonary vascular markings, reflecting reduced pulmonary blood flow from right ventricular outflow tract obstruction.^[59] The oligemic lung fields further support the diagnosis, though these findings are not pathognomonic and require confirmation with more advanced techniques.^[3] Electrocardiography (ECG) complements radiographic assessment by demonstrating right axis deviation and signs of RVH, often with right atrial enlargement and ST-T wave changes indicative of strain.^[3] These patterns arise from the chronic pressure overload on the right ventricle due to pulmonary stenosis, typically showing a dominant R wave in V1 and an axis between +90° and +180°.^[59] While ECG supports clinical suspicion, it lacks specificity for TOF and is used alongside other imaging.^[60] Echocardiography serves as the gold standard for diagnosing TOF, providing detailed visualization of all four core defects: ventricular septal defect, overriding aorta, pulmonary stenosis, and RVH.^[3] Transthoracic echocardiography delineates the size and location of the ventricular septal defect, the degree of aortic override, the severity of right ventricular outflow tract obstruction, and the direction of the right-to-left shunt.^[59] It also assesses coronary artery anatomy, crucial for surgical planning to avoid injury during repair.^[61] In neonates and infants, Doppler imaging quantifies the pressure gradient across the pulmonary valve and evaluates associated anomalies like patent ductus arteriosus.^[62] For complex cases, cardiac magnetic resonance imaging (MRI) and computed tomography (CT) offer superior anatomical detail, particularly for evaluating branch pulmonary arteries, aortopulmonary collateral vessels, and post-stenotic dilatation.^[60] Cardiac MRI excels in functional assessment without radiation, quantifying right ventricular volumes, ejection fraction, and pulmonary regurgitation severity using cine sequences and phase-contrast flow mapping.^[63] CT angiography is valuable when MRI is contraindicated or for rapid delineation of vascular structures, though it involves ionizing radiation.^[61] Both modalities aid in preoperative planning and postoperative surveillance of repaired TOF.^[64] Recent advancements as of 2025 incorporate artificial intelligence (AI) in echocardiography to enhance quantification and detection accuracy in TOF. AI algorithms automate segmentation of cardiac structures, improving measurement of ventricular volumes and shunt quantification with reported accuracies exceeding 95% in congenital heart disease screening.^[65] These tools reduce inter-observer variability and support real-time analysis, particularly in resource-limited settings.^[66] In pediatric CT imaging for TOF, radiation dose minimization is paramount to reduce long-term cancer risk, achieved through techniques like low tube voltage (70-80 kVp), automatic exposure control, and prospective ECG-gating.^[67] Emerging photon-counting detector CT further lowers doses by up to 50% while maintaining diagnostic image quality for congenital heart defects.^[68] These strategies ensure effective imaging with cumulative effective doses often below 2 mSv in optimized protocols.^[69]

Genetic Evaluation

Genetic evaluation is a critical component in the management of patients with Tetralogy of Fallot (TOF), aimed at identifying underlying genetic causes that may influence prognosis, surgical planning, and family counseling.^[70] Testing is particularly indicated in cases with syndromic features such as dysmorphic facies, developmental delay, or immune abnormalities; a family history of congenital heart disease (CHD) or TOF; or consanguinity, which increases the likelihood of recessive variants.^[71] In nonsyndromic TOF, genetic testing is recommended for all patients under 18 years during initial evaluation to detect actionable variants.^[70] Chromosomal microarray analysis (CMA) serves as the first-line test for detecting copy number variants, including the common 22q11.2 deletion associated with DiGeorge syndrome, which occurs in up to 15% of TOF cases.^[70] This technique identifies submicroscopic deletions or duplications with high sensitivity and is preferred over traditional karyotyping due to its ability to detect smaller genomic imbalances relevant to TOF etiology.^[71] For targeted confirmation of 22q11.2 deletions or other syndrome-specific anomalies, fluorescence in situ hybridization (FISH) or multiplex ligation-dependent probe amplification (MLPA) may be employed, offering rapid results in high-suspicion cases.^[3] In patients without identified copy number variants, next-generation sequencing (NGS) panels targeting CHD-associated genes, such as those involved in conotruncal defects (e.g., TBX1, GATA4, NKX2.5), are recommended to uncover sequence variants.^[71] Whole exome sequencing may be considered for broader analysis if panel testing is negative, particularly in familial or consanguineous cases.^[72] The diagnostic yield of comprehensive genetic testing in nonsyndromic TOF ranges from 20% to 30%, with CMA contributing 10-20% of detections, primarily 22q11.2 deletions, and NGS identifying pathogenic variants in 5-10% of remaining cases.00025-3) Positive findings guide multidisciplinary care, including immunology or developmental assessments for syndromic associations. Genetic counseling is essential following testing, discussing recurrence risks (typically 1-2% for de novo variants but higher if inherited), implications for affected family members, and options for prenatal testing in future pregnancies, such as noninvasive prenatal testing or invasive diagnostics like chorionic villus sampling.^[71] Counseling also addresses psychosocial impacts and the potential for variable expressivity in TOF-related genes.^[72]

Management

Acute Treatment of Tet Spells

Hypercyanotic spells, also known as Tet spells, are acute episodes of severe cyanosis and hypoxia in infants with unrepaired Tetralogy of Fallot, often triggered by crying or agitation that increases right ventricular outflow tract obstruction.^[3] Initial management focuses on non-pharmacologic interventions to rapidly alleviate symptoms by increasing systemic vascular resistance and reducing pulmonary vascular resistance. Placing the infant in the knee-to-chest position compresses the femoral arteries, thereby elevating systemic vascular resistance and promoting pulmonary blood flow.^[3] Administering 100% oxygen via face mask helps decrease pulmonary vascular resistance and improve oxygenation, while calming the child minimizes agitation that exacerbates infundibular spasm.^[10] If symptoms persist, pharmacologic therapy escalates to address hyperpnea, spasm, and hemodynamic imbalance. Morphine sulfate (0.1-0.2 mg/kg IV, IM, or SC) sedates the infant, reduces respiratory rate, and relieves infundibular spasm by decreasing catecholamine release.^[10] Volume expansion with normal saline (10 mL/kg IV bolus) corrects potential dehydration and boosts preload to support cardiac output.^[3] Sodium bicarbonate (1-2 mEq/kg IV) treats metabolic acidosis, which can worsen pulmonary vasoconstriction.^[3] For refractory spells, vasopressors and beta-blockers target vascular tone and contractility. Phenylephrine (0.1-0.5 mcg/kg/min IV infusion after 5-20 mcg/kg boluses) increases systemic vascular resistance, redirecting blood to the pulmonary circulation without significantly affecting heart rate.^[10] Beta-blockers such as propranolol (0.01-0.1 mg/kg IV, titrated) or esmolol (100-500 mcg/kg IV bolus followed by 25-100 mcg/kg/min infusion) diminish right ventricular contractility, reducing dynamic outflow obstruction.^[10] Propranolol may also be used prophylactically at 1-4 mg/kg/day orally in high-risk infants to prevent recurrent spells.^[73] In severe, unresponsive cases, advanced support is required. Endotracheal intubation with muscle paralysis (e.g., using pancuronium) minimizes oxygen demand and stabilizes ventilation.^[3] Extracorporeal membrane oxygenation (ECMO) serves as a rescue therapy to provide temporary cardiopulmonary support, bridging to definitive surgical repair.^[3] The primary goal of acute treatment is hemodynamic stabilization to prevent complications like brain injury or death, often necessitating urgent evaluation for palliative or complete surgical intervention if spells recur.^[10]

Definitive Surgical Repair

The definitive surgical repair of Tetralogy of Fallot is a complete open-heart procedure designed to address all four core malformations, restoring normal hemodynamics and preventing long-term complications. The surgery typically employs a median sternotomy approach, with the ventricular septal defect (VSD) closed using a Dacron or Gore-Tex patch via a transatrial or transventricular incision to avoid damaging the conduction system. Concomitantly, the right ventricular outflow tract (RVOT) obstruction is relieved through resection of hypertrophic infundibular muscle bundles and, if necessary, reconstruction of the pulmonary valve annulus or main pulmonary artery. In cases of severe pulmonary stenosis or hypoplastic annulus, a transannular patch—often made of autologous pericardium or synthetic material—is incorporated to widen the RVOT, though this may lead to pulmonary regurgitation.^[74]^[75]^[76] The procedure is conducted under hypothermic cardiopulmonary bypass, with cardioplegic solution administered to induce diastolic arrest and myocardial protection during the ischemic period, typically lasting 60-120 minutes of aortic cross-clamp time. Elective repair is ideally performed between 3 and 6 months of age to balance growth-related risks and physiological benefits, though neonates or infants with severe cyanosis or tet spells may undergo earlier intervention to mitigate morbidity. In modern high-volume centers, perioperative mortality for primary repair has declined to less than 2%, reflecting improvements in perioperative care, anesthesia, and surgical expertise.^[76]^[77]^[78]^[79] Surgical strategies vary for anatomical variants, such as Tetralogy of Fallot with absent pulmonary valve syndrome, which affects 3-6% of cases and involves aneurysmal dilatation of the pulmonary arteries. Here, valve-sparing approaches prioritize pulmonary valve reconstruction using commissurotomy, leaflet augmentation with autologous pericardium, or cusp extension to preserve competence and avoid free regurgitation, often combined with pulmonary artery reduction plasty. As of 2025, advances in select centers include minimally invasive techniques via right anterior minithoracotomy or robotic-assisted systems for VSD closure and RVOT patching in older infants or low-risk patients, potentially reducing incision size, pain, and recovery time while maintaining efficacy comparable to traditional methods.^[80]^[81]^[82]

Palliative Interventions

Palliative interventions in tetralogy of Fallot (TOF) serve as temporary measures to augment pulmonary blood flow and alleviate severe cyanosis in high-risk infants, particularly those unsuitable for immediate complete repair.^[83] These procedures are typically employed in neonates or young infants with critical anatomy, allowing time for somatic growth before definitive surgery.^[84] The modified Blalock-Taussig-Thomas (mBTT) shunt is the most common surgical palliative option, involving anastomosis of the subclavian artery to a branch pulmonary artery via a synthetic graft to provide controlled systemic-to-pulmonary blood flow.^[85] Central shunts, such as aortopulmonary connections, offer an alternative for extremely low-birth-weight neonates by directly linking the ascending aorta to the main pulmonary artery, though they carry a higher risk of excessive flow.^[86] For select cases, transcatheter right ventricular outflow tract (RVOT) stenting provides a less invasive palliation, deploying a stent to relieve obstruction and improve oxygenation without open surgery.^[87] Indications for these interventions include profound cyanosis due to restricted pulmonary blood flow, often in premature infants (<2.5 kg), those with significant comorbidities (e.g., genetic syndromes or additional cardiac defects), or ductal-dependent circulation.^[88] They are particularly favored when primary repair poses excessive perioperative risk, such as in cases of small pulmonary arteries or complex anatomy.^[89] Potential risks encompass shunt thrombosis or occlusion leading to acute decompensation, distortion or hypoplasia of the pulmonary arteries that may complicate future repair, and left ventricular volume overload from unregulated shunt flow, potentially causing congestive heart failure.^[90] RVOT stenting may additionally prolong subsequent cardiopulmonary bypass times during complete repair due to the indwelling device.^[88] These palliation strategies act as a bridge to complete surgical repair, which is generally performed within 3 to 6 months of age to minimize cumulative cyanotic damage while leveraging interval growth in pulmonary vasculature.^[91] Historically, before the 1980s, shunts like the classic Blalock-Taussig procedure were the mainstay of TOF management, enabling survival until intracardiac repair became feasible; today, with advances in neonatal surgery, palliative procedures are used in approximately 25-35% of cases, reserved for high-risk subsets.^[92]

Timing and Surgical Approaches

The timing of surgical intervention for Tetralogy of Fallot (TOF) is determined by the infant's clinical stability, anatomical features, and associated comorbidities, with complete repair generally preferred in early infancy to minimize long-term right ventricular strain. Early complete repair, typically performed between 3 and 6 months of age, is favored for most patients with adequate pulmonary artery size and no significant comorbidities, as it allows for resolution of cyanosis and prevents progression of right ventricular hypertrophy.^[93] In contrast, a staged approach is recommended for neonates with hypoplastic pulmonary arteries or low body weight (under 2.5 kg), involving initial palliation followed by definitive repair once growth permits better surgical conditions.^[94] Primary repair in symptomatic neonates is increasingly adopted when feasible, showing comparable short-term outcomes to staged strategies, particularly in centers with expertise in neonatal cardiac surgery.^[95] Surgical approaches for TOF repair predominantly utilize median sternotomy as the standard access, providing optimal visualization of the right ventricular outflow tract and associated structures for patch augmentation or resection.^[93] Off-pump techniques, which avoid cardiopulmonary bypass, are rarely employed in neonates due to technical challenges and the need for precise intracardiac repairs, though they may be considered in select low-risk cases.^[96] Hybrid procedures, combining catheter-based stenting of the right ventricular outflow tract or ductus arteriosus with subsequent surgical intervention, are utilized for high-risk neonates with severe anatomy, offering a bridge to complete repair while promoting pulmonary artery growth.^[83] Decision-making for repair timing incorporates qualitative assessments from echocardiography, including right ventricular outflow tract gradients to evaluate obstruction severity, and estimation of the pulmonary-to-systemic flow ratio (Qp:Qs) to gauge shunt dynamics, with ratios below 1:1 indicating significant right-to-left shunting that may necessitate earlier intervention.^[97] By 2025, emerging trends emphasize transcatheter right ventricular outflow tract interventions, such as stenting or valve implantation, for managing residual lesions in repaired patients, reducing the need for repeat sternotomies in adulthood.^[98]

Complications

Perioperative Risks

Perioperative risks in the surgical repair of tetralogy of Fallot (TOF) primarily encompass immediate postoperative complications arising from the complexity of the procedure, which involves ventricular septal defect closure and relief of right ventricular outflow tract obstruction (RVOTO). These risks are influenced by factors such as cardiopulmonary bypass duration, patient age, and weight, with overall early mortality rates typically ranging from 1% to 4% in modern centers.^[99]^[100] Low cardiac output syndrome (LCOS) is a prominent complication, occurring in approximately one-third of patients due to right ventricular (RV) dysfunction from surgical manipulation, prolonged ischemia, or residual pressure overload.^[101] Management focuses on inotropic support, such as milrinone or dopamine, to enhance RV contractility, alongside optimization of preload and afterload, though milrinone alone may increase fluid requirements without consistently improving output.^[102] Junctional ectopic tachycardia (JET) represents another critical arrhythmia in the early postoperative period, with an incidence of 20-30% following TOF repair, attributed to inflammation and surgical trauma near the atrioventricular node.^[103]^[104] This tachycardia can exacerbate hemodynamic instability, leading to prolonged intensive care stays. Strategies for management include mild hypothermia (to 34-35°C), sedation, and avoidance of electrolyte imbalances, which can reduce the rate and duration of JET episodes.^[105] Bleeding complications arise from the extensive dissection and use of cardiopulmonary bypass, with postoperative blood loss necessitating reoperation in up to 5-10% of cases in contemporary series, though historical rates were higher at around 34%.^[106] Infections, including sepsis and mediastinitis, occur in 2-6% of pediatric patients post-TOF repair, often linked to prolonged ventilation or central lines, and are managed with broad-spectrum antibiotics and rigorous sterile techniques.^[107] Chylothorax, resulting from thoracic duct injury during surgery, complicates 1-5% of TOF repairs and presents as persistent pleural effusions, typically treated conservatively with low-fat diets or octreotide before considering surgical ligation.^[108] Residual defects, such as incomplete ventricular septal defect (VSD) closure or persistent RVOTO, occur in 5-10% of cases and may require early reintervention via catheter-based or surgical approaches to prevent recurrent cyanosis or RV strain.^[109] Neurological events, including ischemic stroke, affect approximately 0.5% of children undergoing cardiac surgery for TOF, potentially due to air emboli introduced during bypass or hypotension episodes, with outcomes ranging from transient deficits to permanent impairment in about 70% of affected cases.^[110] Perioperative mortality is notably higher in low-weight infants (under 2.5 kg), where rates can exceed 10%, compared to 1-2% in older children, due to immature physiology, higher susceptibility to LCOS, and technical challenges in repair.^[111]^[112] These risks underscore the importance of preoperative optimization and multidisciplinary care in high-volume centers to mitigate adverse outcomes.

Long-term Cardiac Issues

One of the most common long-term cardiac complications following surgical repair of Tetralogy of Fallot (TOF) is pulmonary regurgitation (PR), particularly in patients who underwent transannular patch augmentation of the right ventricular outflow tract (RVOT). This surgical technique, while effective for relieving obstruction, often results in free PR due to the absence of a competent pulmonary valve, leading to chronic volume overload of the right ventricle (RV). Over time, this PR contributes to progressive RV dilation and dysfunction, which can manifest as exercise intolerance, right heart failure, or increased risk of arrhythmias.^[113]^[98] Arrhythmias represent another significant long-term issue in adults with repaired TOF, with sustained ventricular tachycardia (VT) occurring in approximately 15% of patients and atrial tachyarrhythmias, including atrial fibrillation, affecting about 20%. These arrhythmias are often linked to RV dilation, surgical scars, and residual hemodynamic abnormalities, increasing the risk of sudden cardiac death. VT typically arises from reentrant circuits in the RVOT or around surgical patches, while atrial fibrillation may stem from right atrial enlargement secondary to tricuspid regurgitation.^[114]^[115] Reoperation for pulmonary valve replacement (PVR) is frequently required to address severe PR and its consequences, with an annual incidence of approximately 0.8% after repair, translating to a cumulative risk of 16% over 20 years post-operatively. In cohorts followed into adulthood, up to one-third of patients undergo PVR by age 40, often prompted by RV enlargement, reduced exercise capacity, or arrhythmia onset. Transcatheter PVR has emerged as a less invasive option for select patients with suitable RVOT anatomy, though surgical PVR remains standard for complex cases.^[116]^[117] Aortic root dilation is observed in a subset of patients late after TOF repair, progressing in about 50% during mid-term follow-up and potentially leading to aortic regurgitation (AR). This dilatation is attributed to intrinsic aortic wall abnormalities, chronic hemodynamic stress from the overriding aorta, and genetic factors common in TOF, such as 22q11 deletion. Progressive AR can exacerbate left ventricular volume overload, necessitating surveillance and, in severe cases, aortic valve or root replacement.^[118]^[119] Cardiac magnetic resonance imaging (MRI) is recommended for ongoing surveillance of RV function and volumes in repaired TOF patients, with guidelines suggesting assessments every 2-3 years starting 10 years post-repair or earlier if symptoms or moderate PR develop. As of 2024-2025 updates, including the AHA scientific statement, MRI provides gold-standard quantification of RV end-diastolic volume (threshold for PVR often >150-160 mL/m²) and ejection fraction, aiding in timely intervention to prevent irreversible RV remodeling.^[98]^[120] Patients with repaired TOF face an elevated lifetime risk of infective endocarditis, estimated at 1-2 events per 1,000 patient-years, higher than the general population due to residual shunts, prosthetic materials, or valve dysfunction. Prophylaxis is advised for high-risk procedures, and prompt recognition is critical given the potential for involvement of the pulmonary or aortic valves.^[121]^[122]

Adulthood and Pregnancy Concerns

As adults with repaired tetralogy of Fallot (TOF) age, the risk of arrhythmias, including atrial and ventricular tachyarrhythmias, increases significantly, with approximately one-third experiencing such events over 2-3 decades post-repair.^[123] This age-related rise contributes to sudden cardiac death risk, prompting routine risk stratification using electrocardiography, Holter monitoring, and imaging to identify high-risk features like right ventricular dysfunction or QRS duration >180 ms.^[124] Implantable cardioverter-defibrillator (ICD) therapy is recommended for primary prevention in selected adults with multiple risk factors, such as inducible ventricular tachycardia or severe right ventricular dilation, as these patients show high rates of appropriate therapies even without prior events.^[125]^[126] Right ventricular (RV) dysfunction is nearly universal in repaired TOF due to chronic outflow tract issues like pulmonary regurgitation or stenosis, leading to progressive dilation and systolic impairment in up to 50% of adults.^[98] This often culminates in heart failure, with prevalence rising sharply with age—from about 9% in those under 30 years to 39% in those over 60 years—and a 5-year incidence approaching 50% in older cohorts.^[127] Management focuses on monitoring RV function and timely interventions like pulmonary valve replacement to mitigate failure progression. Pregnancy in women with repaired TOF carries a moderate risk, classified as modified World Health Organization (mWHO) class II-III, with cardiac complications occurring in up to 8% of cases, primarily arrhythmias or heart failure exacerbations.^[128] Preconception counseling is essential to assess RV function and residual lesions via echocardiography and cardiac MRI, with beta-blockers recommended for those with arrhythmias or RV outflow obstruction to reduce hemodynamic stress.^[129] The 2025 European Society of Cardiology guidelines emphasize multidisciplinary care, including contraception counseling to avoid estrogen-based methods in those with thrombosis risk, favoring progestin-only or intrauterine devices.^[130] Fetal outcomes show approximately 85-93% live birth rates in repaired TOF pregnancies, though risks of preterm delivery and small-for-gestational-age infants are elevated compared to the general population, often linked to maternal cyanosis or RV dysfunction.^[131]^[132] Vaginal delivery is preferred for hemodynamically stable patients to minimize cardiovascular strain, with cesarean section reserved for obstetric indications or decompensated heart failure.^[133] Postpartum monitoring is critical, as fluid shifts can precipitate arrhythmias or RV failure. Adult survivors require lifelong follow-up, with the 2025 guidelines recommending echocardiography every 1-3 years in asymptomatic patients to track RV size, function, and valve status, alongside periodic advanced imaging like cardiac MRI for those with moderate residual lesions.^[130]^[134] This surveillance helps detect early signs of deterioration, informing interventions to preserve quality of life into later adulthood.

Prognosis and Outcomes

Survival and Mortality

Operative survival rates for tetralogy of Fallot repair exceed 98% in high-volume centers, reflecting advances in surgical techniques and perioperative care.^[135] Long-term survival following complete repair is favorable, with approximately 90-95% of patients alive at 30 years post-repair, depending on factors such as age at surgery and associated anomalies.^[136]^[137] In historical cohorts without surgical intervention, survival was markedly reduced, with only about 40% of patients reaching 3 years of age and fewer than 10% surviving beyond 20 years, implying a median survival well under a decade for most cases.^[3] Primary causes of mortality in repaired patients include sudden cardiac death due to ventricular arrhythmias, occurring at an approximate rate of 0.5-1% per year in adulthood, and progressive heart failure related to right ventricular dysfunction.^[138]^[139] These outcomes have improved substantially due to early primary repair, typically performed in infancy, and ongoing monitoring for arrhythmias and ventricular function, which mitigate late risks.^[140] As of 2025, patients with repaired tetralogy of Fallot and no significant residual defects achieve near-normal life expectancy, with 30-year survival rates approaching 95% in optimized cohorts.^[141]^[142]

Long-term Quality of Life

Patients with repaired Tetralogy of Fallot often achieve favorable functional outcomes, particularly in exercise capacity. Studies indicate that approximately 70-80% of adults attain near-normal exercise performance, as measured by peak oxygen uptake, though residual right ventricular dysfunction and arrhythmias can impose limitations in the remaining cases.^[143]^[144] Neurocognitive outcomes vary, with mild deficits observed in about 25% of patients, primarily linked to chronic preoperative cyanosis or the hemodynamic stresses of cardiopulmonary bypass during surgical repair. These deficits may manifest as subtle impairments in attention, executive function, or processing speed, though most individuals function within normal ranges overall.^[145] Psychosocial aspects show mixed results, with higher prevalence of anxiety and internalizing behaviors compared to the general population, yet employment rates remain comparable to peers, reflecting good overall adaptation and resilience.^[146]^[147] Ongoing management emphasizes lifelong surveillance, including annual cardiology evaluations and periodic exercise testing to monitor ventricular function and arrhythmias. Pulmonary valve replacement serves as a key intervention, significantly alleviating symptoms like dyspnea and enhancing quality of life in patients with significant regurgitation.^[148]^[5] In 2025, telemedicine has emerged as a vital tool for facilitating smooth transitions to adult care, enabling remote monitoring and education for congenital heart disease survivors.^[149]

Epidemiology

Incidence and Prevalence

Tetralogy of Fallot (TOF) is one of the most common cyanotic congenital heart defects, with an estimated incidence of 3 to 5 cases per 10,000 live births globally.^[79]^[3] As of 2025, global incidence remains stable at approximately 3-4 per 10,000 live births.^[150] In the United States, the birth prevalence is approximately 1 in 2,077 infants, or about 4.8 per 10,000 live births.^[4] This condition accounts for 5% to 7% of all congenital heart defects.^[3] There is a slight male predominance, with a male-to-female ratio of approximately 1.5:1.^[151] Prevalence among adults has increased substantially due to advances in surgical interventions and postoperative care, enabling over 90% of patients to survive into adulthood.^[136] For instance, 30-year survival rates following repair exceed 90% in contemporary cohorts.^[152] This shift has resulted in a growing population of adults living with repaired TOF, though exact prevalence figures vary by region based on historical access to care. Incidence rates are relatively consistent across developed nations, but the condition is often underreported in low- and middle-income countries due to limited access to echocardiography and other diagnostic tools.^[153] Variations exist, with higher reported rates in some Asian populations and lower detection in African regions.^[154] Geographic variations indicate higher reported incidence of TOF in Asian populations compared to Europe and North America.^[155] Epidemiological trends indicate stability in TOF incidence, with data from European registries such as EUROCAT showing no major shifts as of 2023.^[156] However, increased prenatal screening has led to a slight decline in live birth prevalence in areas with robust diagnostic programs, as some cases are identified and managed or terminated antenatally.^[157]

Demographic Risk Factors

Advanced maternal age, particularly in women over 35 years, is associated with a slight increase in the risk of Tetralogy of Fallot (TOF), consistent with patterns observed in several population-based studies from the United States and Europe.^[158] This association may reflect age-related changes in oocyte quality or cumulative environmental exposures, though the magnitude of risk remains modest compared to other congenital heart defects.^[159] These differences may partly stem from improved ascertainment and reporting in high-resource settings, as well as potential regional environmental or genetic factors, though definitive causes remain under investigation.^[160] Ethnic disparities in TOF risk are not strongly pronounced overall, with limited evidence of consistent differences across major racial groups; however, higher incidence has been noted in Asian populations relative to White reference groups in some registries.^[161] In regions with high rates of consanguineous marriages, such as parts of the Middle East and South Asia, parental consanguinity elevates the risk of TOF and other congenital heart defects by approximately twofold, likely due to increased homozygosity for recessive variants.^[162] Socioeconomic status significantly influences the detection of TOF, as lower income levels and limited access to prenatal care correlate with reduced rates of prenatal diagnosis, leading to later identification and potential delays in intervention.^[163] Rural residence and lack of health insurance further exacerbate these disparities, with studies showing up to 20-30% lower prenatal detection rates in underserved populations.^[164] As of 2025, emerging research suggests possible links between prenatal exposure to climate-related factors, such as extreme heat and air pollution, and increased TOF risk, though these associations remain unconfirmed and require further longitudinal validation.^[165]

History

Early Descriptions

The earliest recognition of the cardiac malformations now known as tetralogy of Fallot dates to the 17th century, when Danish anatomist Niels Stensen (also known as Nicolaus Steno) described the anatomy during an autopsy of a newborn in 1671, noting a narrowed pulmonary trunk and overriding aorta among other defects.^[166] This account, published in his work Elementorum myologiae specimen, represented the first documented observation of the characteristic features, though without clinical correlation to cyanosis.^[167] Subsequent anatomical reports built on this foundation; for instance, in 1777, Dutch anatomist Edouard Sandifort detailed similar pulmonary and septal anomalies in postmortem examinations.^[168] Further clinical insights emerged in the late 18th century, as British anatomist William Hunter published postmortem descriptions of cyanotic congenital heart disease in 1784, including a case of a 13-year-old boy with severe cyanosis, a ventricular septal defect, and pulmonary stenosis—features consistent with tetralogy of Fallot.^[166] By the 19th century, the condition was colloquially termed maladie bleue (blue disease) in France, referring to the bluish skin discoloration from chronic hypoxemia, as observed in clinical cases without understanding of the underlying unity of the defects.^[169] Historical autopsies during this era, often performed on children and young adults dying from cyanotic spells or heart failure, frequently revealed the malformation, underscoring its prevalence as a leading cause of fatal cyanosis; for example, series from European medical centers indicated it accounted for a substantial portion of such deaths.^[170] The definitive early characterization came from French physician Étienne-Louis Arthur Fallot in 1888, who, through analysis of autopsy findings in over 50 cyanotic patients at the Hospice of the Old in Marseille, delineated four interrelated lesions: infundibular pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (overriding the septum), and right ventricular hypertrophy.^[171] In his seminal series of papers published in Marseille Médicale, Fallot emphasized that these anomalies constituted a single pathological entity—a tetralogy—rather than disparate conditions. The eponymous term "tetralogy of Fallot" was coined later, in 1924, by Canadian physician Maude Abbott.^[172] His work, based on clinical histories correlated with autopsies, demonstrated the lesion's high frequency among cyanotic cases—comprising approximately 75% in his cohort—and clarified its role in producing the maladie bleue phenotype, though no curative interventions were available until the mid-20th century.^[170]

Key Surgical Milestones

The development of surgical interventions for tetralogy of Fallot (TOF) marked a transformative era in congenital heart disease management, shifting from inevitable early mortality to curative outcomes. Helen Taussig's clinical observations in the 1930s and 1940s were pivotal, as she identified the need for increased pulmonary blood flow in cyanotic children with TOF, hypothesizing that surgical shunting could alleviate symptoms by redirecting systemic blood to the lungs.^[173] Her insights, derived from meticulous examination of over 1,000 patients at Johns Hopkins, laid the groundwork for palliative procedures and emphasized the anatomical basis of the condition's pathophysiology.^[174] The first major milestone was the Blalock-Thomas-Taussig (BTT) shunt in 1944, a palliative surgery performed by Alfred Blalock under Taussig's guidance, which connected the subclavian artery to the pulmonary artery to boost pulmonary circulation.00682-3/fulltext) This procedure, initially tested on animal models by Vivien Thomas, was successfully applied to a 15-month-old infant with TOF on November 29, 1944, dramatically improving oxygenation and survival prospects for cyanotic "blue babies."^[175] The BTT shunt became the standard initial intervention, with thousands of procedures worldwide reducing early childhood mortality from near 50% in untreated cases to more manageable levels through palliation.01374-4/pdf) Advancing toward definitive repair, C. Walton Lillehei achieved the first successful open-heart correction of TOF in 1954 using controlled cross-circulation, where a parent's blood oxygenated the patient's during surgery.^[176] On August 31, 1954, Lillehei's team repaired the ventricular septal defect and relieved right ventricular outflow obstruction in an 11-year-old boy, marking the inaugural total intracardiac repair and enabling direct visualization of defects without full extracorporeal support.^[177] This technique, applied to 45 patients over 15 months, demonstrated feasibility for complex repairs, though it carried risks due to donor dependency.^[178] In 1955, John W. Kirklin at the Mayo Clinic introduced cardiopulmonary bypass (CPB) for TOF repair, utilizing a mechanical pump-oxygenator to temporarily assume circulatory function, thus eliminating the need for human donors.^[179] Kirklin's initial series of open-heart TOF corrections using this modified Gibbons device achieved promising results, with survival rates improving as the technology refined, paving the way for broader adoption of total repairs.01022-9/fulltext) By the 1970s, total correction had become the standard approach, often performed in infancy or early childhood, significantly diminishing reliance on preliminary shunts and achieving hospital mortality rates below 5%.^[180] From a 2025 perspective, these milestones have reduced overall TOF mortality from approximately 50% in untreated historical cohorts—primarily due to progressive cyanosis and complications—to less than 1% for modern primary repairs, reflecting advances in perioperative care and surgical precision.^[181] Long-term survival now exceeds 97% into adulthood, underscoring the enduring impact of these innovations.31018-7/fulltext)

Associated Conditions

Genetic Syndromes

Approximately 20% to 30% of cases of tetralogy of Fallot (TOF) are associated with genetic syndromes or chromosomal abnormalities, with the remainder classified as non-syndromic.^[16]^[20] These syndromic associations often involve multisystem involvement, requiring comprehensive evaluation beyond cardiac repair. The most frequently linked syndromes include 22q11.2 deletion syndrome (DiGeorge syndrome), Alagille syndrome, trisomy 21 (Down syndrome), and VACTERL association. 22q11.2 deletion syndrome, also known as DiGeorge syndrome, is the most common genetic association with TOF, occurring in approximately 15% of cases.^[20] This syndrome results from a microdeletion on chromosome 22q11.2 and is characterized by thymic hypoplasia leading to T-cell immunodeficiency, hypocalcemia due to parathyroid gland dysfunction, and distinctive facial dysmorphism such as low-set ears, hypertelorism, and a bulbous nasal tip.^[182] In TOF patients with this deletion, additional conotruncal anomalies, such as right aortic arch or aberrant subclavian artery, are common, complicating surgical planning.^[183] Alagille syndrome, caused by mutations in the JAG1 or NOTCH2 genes, affects about 1% to 2% of TOF cases but is notable for its hepatic and skeletal manifestations.^[184] Key features include paucity of intrahepatic bile ducts leading to cholestasis and jaundice, as well as butterfly vertebrae on spinal imaging.^[182] Cardiac involvement in Alagille syndrome often manifests as peripheral pulmonary artery stenosis, but TOF occurs in up to 16% of affected individuals, sometimes requiring early intervention for both cardiac and liver-related complications.^[184] Trisomy 21, or Down syndrome, is associated with TOF in roughly 5% to 10% of syndromic cases, frequently presenting with an atrioventricular septal defect (AVSD) variant alongside the typical TOF anatomy.^[3] This chromosomal abnormality (extra copy of chromosome 21) predisposes to intellectual disability, hypotonia, and characteristic facial features like upslanting palpebral fissures and a single palmar crease. In the context of TOF, the AVSD component can increase the complexity of repair, often necessitating earlier surgical timing.^[3] VACTERL association represents a non-random cluster of congenital anomalies, with TOF identified as a cardiac feature in a subset of cases, estimated at less than 5% of TOF patients overall.^[185] The acronym denotes vertebral defects (e.g., hemivertebrae), anal atresia, cardiac malformations like TOF, tracheoesophageal fistula, renal anomalies (e.g., horseshoe kidney), and limb abnormalities (e.g., radial dysplasia).^[186] This association lacks a single genetic cause but involves multifactorial embryologic disruptions, leading to variable expressivity. Patients with TOF and associated genetic syndromes face heightened surgical risks, including prolonged operative times, increased postoperative complications, and poorer long-term outcomes compared to non-syndromic cases.^[187] For instance, syndromes other than 22q11.2 deletion or trisomy 21 are linked to pulmonary vascular issues that worsen prognosis after repair. Management therefore demands a multidisciplinary approach involving cardiologists, geneticists, immunologists, hepatologists, and surgeons to address extracardiac issues pre- and postoperatively, ultimately improving survival and quality of life.01744-3/fulltext)^[188]

Co-occurring Heart Defects

Tetralogy of Fallot (TOF) is frequently associated with additional congenital heart defects beyond its four characteristic features, which can complicate diagnosis and management. One common co-occurring anomaly is patent ductus arteriosus (PDA), a persistent opening between the aorta and pulmonary artery that provides an alternative pathway for pulmonary blood flow in some patients with TOF.^[3] Atrioventricular septal defect (AVSD), characterized by defects in the atrial and ventricular septa along with abnormalities in the atrioventricular valves, co-occurs with TOF particularly in patients with Down syndrome, occurring in approximately 1.8% of such cases.^[189] There is significant anatomical and physiological overlap between TOF and double outlet right ventricle (DORV), especially when DORV features a subaortic ventricular septal defect and right ventricular outflow tract obstruction, leading to similar hemodynamic profiles that may require differentiated surgical planning.^[11] In the severe variant of TOF with pulmonary atresia, major aortopulmonary collateral arteries (MAPCAs)—abnormal systemic-to-pulmonary collateral vessels—are present in 20% to 25% of cases, supplying blood to the lungs in the absence of a main pulmonary artery connection.^[190] These co-occurring defects do not overlap with the core components of TOF but are additive, often necessitating modified surgical approaches such as unifocalization for MAPCAs or staged repairs for combined lesions, thereby increasing procedural complexity and potential risks.^[191]

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If You Are Looking To Improve Cardiac Output After Tetralogy of ...
Nov 7, 2023 · Administration of milrinone following tetralogy of fallot repair increases postoperative volume administration without improving cardiac output.
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Blalock and Taussig Perform the First "Blue Baby" Surgery - EBSCO
On November 29, 1944, Blalock performed the first “blue baby” operation on a fifteen-month-old girl suffering from tetralogy of Fallot. Blalock was assisted by ...Missing: source | Show results with:source
[178]
The first open heart corrections of tetralogy of Fallot. A 26-31 year ...
Tetralogy of Fallot became a correctable malformation on August 31, 1954, and from that data through 1960, 106 patients (ages 4 months-45 years) who underwent ...
[179]
C. Walton Lillehei and the Birth of Open Heart Surgery - Black - 2006
Feb 21, 2006 · On August 31, 1954, Dr. Lillehei operated on an 11-year-old boy with tetralogy of Fallot. Cross circulation again went smoothly, and Lillehei ...<|separator|>
[180]
C. Walton Lillehei, the “Father of Open Heart Surgery” | Circulation
The cardiac defect was repaired with a total pump time of 19 minutes. Over the ensuing 15 months, Lillehei operated on 45 patients with otherwise irreparable ...
[181]
Tetralogy of Fallot: Yesterday and Today - Wiley Online Library
Nov 29, 2009 · In 1955, at the Mayo Clinic, John Kirklin and associates reported the use of a modified Gibbons CPB circuit in the open repair of complex ...<|separator|>
[182]
Tetralogy of Fallot Repair in Patients 40 Years or Older - PMC - NIH
Surgical repair of TOF has been performed since 1955. Early primary repair has been recommended since the 1970s and is now routinely performed with excellent ...
[183]
Fourth Decade After Repair of Tetralogy of Fallot | Circulation
Oct 23, 2014 · Early- and long-term evidence supports the modern practice of repair in infancy, with nearly 0% mortality and excellent early physiology ...
[184]
Alagille Syndrome - GeneReviews® - NCBI Bookshelf
May 19, 2000 · Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability ranging from life-threatening liver or cardiac ...
[185]
Tetralogy of Fallot associated with chromosome 22q11.2 deletion in ...
Jan 1, 2001 · Tetralogy of Fallot with the deletion is usually associated with additional anomalies of the aortic arch, its branches, the pulmonary artery, ...
[186]
Alagille syndrome: pathogenesis, diagnosis and management - PMC
Sep 21, 2011 · Heart disease Tetralogy of Fallot (TOF) is the most common complex structural anomaly, occurring in up to 16% of cases.
[187]
Analysis of Cardiac Anomalies in VACTERL Association - PMC
Severe defects included Tetralogy of Fallot, Double Outlet Right Ventricle, Atrioventricular Canal defect, Aorto-Pulmonary Window, and a Vascular Ring. In total ...
[188]
VACTERL Association - Symptoms, Causes, Treatment | NORD
VACTERL association is a nonrandom association of birth defects that affects multiple anatomical structures.
[189]
Genetic syndromes and outcome after surgical correction ... - PubMed
Pulmonary arborization defects and genetic syndromes other than del22q11 or trisomy 21, are associated with worse outcome after correction of TOF.Missing: multidisciplinary | Show results with:multidisciplinary
[190]
The Role of a Multidisciplinary Team in Tetralogy of Fallot Care
Multidisciplinary teams significantly improve surgical outcomes for Tetralogy of Fallot patients by offering expertise from various specialties, ensuring that ...
[191]
A single misstep in cardiac development explains the co-occurrence ...
TOF and AVSD co-occurred in 1.8% of Down syndrome patients (20/1146). The prevalence exceeds the 0.68 and 1.2% reported by population-based studies in the ...
[192]
Programmatic Approach: Tetralogy of Fallot w/ Collateral Arteries
Mar 29, 2017 · While MAPCAs are present in 20% to 25% of patients with TOF and pulmonary atresia, the disease is rare and management varies considerably.
[193]
A Review of the Management of Pulmonary Atresia, Ventricular ...
Mar 1, 2019 · Variable surgical strategies are used in the management of PA/VSD/MAPCAs. Most teams report a repair rate of 70% to 80% and a mortality rate lower than 10%.