A Tetralogia de Fallot é uma condição cardíaca congênita (presente desde o nascimento) que se caracteriza por quatro problemas no coração: um buraco na parede que separa os dois ventrículos (as câmaras de baixo do coração), um estreitamento na saída do ventrículo direito (a câmara que bombeia o sangue para os pulmões), a artéria aorta (o principal vaso que leva sangue para o corpo) está mal posicionada, nascendo por cima do buraco entre os ventrículos, e um aumento do músculo do ventrículo direito.
Introdução
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A Tetralogia de Fallot é uma alteração congênita no coração caracterizada por quatro problemas na sua estrutura, incluindo um orifício entre as câmaras cardíacas e o estreitamento da saída para os pulmões. A condição se manifesta logo antes ou após o nascimento, podendo apresentar alterações no crescimento fetal e em traços faciais ou corporais. A doença não consta na lista oficial de PCDTs de doenças raras do Ministério da Saúde e não tem remédios específicos dispensados por protocolo exclusivo no SUS.
A Tetralogia de Fallot é uma condição cardíaca congênita (presente desde o nascimento) que se caracteriza por quatro problemas no coração: um buraco na parede que separa os dois ventrículos (as câmaras de baixo do coração), um estreitamento na saída do ventrículo direito (a câmara que bombeia o sangue para os pulmões), a artéria aorta (o principal vaso que leva sangue para o corpo) está mal posicionada, nascendo por cima do buraco entre os ventrículos, e um aumento do músculo do ventrículo direito.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
13 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial.
Curadoria gene-doença
fontes oficiaisConotruncal heart malformations
A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Congenital heart defects, multiple types, 5
A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive.
Atrial septal defect 2
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.
Hemangioma, capillary infantile
A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring.
Tetralogy of Fallot
A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Atrial standstill 1
A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.
Ventricular septal defect 2
A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Conotruncal heart malformations
A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Atrial septal defect 7, with or without atrioventricular conduction defects
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.
Lymphatic malformation 1
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis.
Alagille syndrome 1
A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
1.049 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 394 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
39 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tetralogia de Fallot
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 4.505
Utility of three-dimensional echocardiography for evaluating right ventricular size and function and ventricular myocardial deformation in repaired tetralogy of fallot.
Para pacientes com Tetralogia de Fallot reparada (rTOF), onde a disfunção do ventrículo direito é uma preocupação e a ressonância magnética cardíaca (RMC) tem limitações, o ecocardiograma 3D (3DE) surge como uma ferramenta de monitoramento complementar. Ele demonstrou boa correlação com a RMC para avaliar volumes do ventrículo direito e, importante para médicos, sua análise de deformação miocárdica (strain) foi eficaz em identificar disfunção sistólica nesses pacientes, apoiando seu uso como um recurso valioso no acompanhamento longitudinal.
🇧🇷 traduzidoGenetic Syndromes Do Not Affect Survival but Increase Morbidity in Neonates with Symptomatic Tetralogy of Fallot.
Este estudo indica que a presença de síndromes genéticas em recém-nascidos com Tetralogia de Fallot sintomática não afeta a taxa de sobrevivência a longo prazo. No entanto, esses pacientes enfrentam maior morbidade, necessitando de internações mais longas em UTI e no hospital total, além de maior probabilidade de alta com sondas de alimentação. Consequentemente, o teste genético é uma ferramenta valiosa para médicos e famílias, fornecendo informações cruciais para o planejamento do cuidado e expectativas clínicas.
🇧🇷 traduzidoOptimal Size of Transannular Patches for Tetralogy of Fallot Repair.
Este estudo sobre a reparação da Tetralogia de Fallot aponta que o tamanho do remendo transanular utilizado influencia o risco de regurgitação pulmonar (RP) a longo prazo. Em pacientes, um alargamento excessivo do anel da válvula pulmonar, definido por um aumento no escore Z de 4 ou mais em relação ao pré-operatório, foi um fator de risco significativo para RP progressiva. Para médicos, isso sugere que um alargamento menos extenso da válvula pulmonar (aumento do escore Z inferior a 4) está associado a melhores resultados, minimizando esta complicação pós-cirúrgica.
🇧🇷 traduzidoAge-dependent Dynamics of the Electrocardiographic Parameters in Cardiovascular Disease-Free Children.
Este estudo aprimorou as referências de eletrocardiograma (ECG) em crianças, fornecendo valores mais precisos e com maior resolução etária, especialmente para neonatos, período de rápidas mudanças cardíacas. Para médicos e pacientes, esses dados são cruciais, pois permitem identificar precocemente desvios em condições como a Tetralogia de Fallot não reparada, onde foram encontradas diferenças significativas em parâmetros como frequência cardíaca, PR, QRS e QTc. Essa maior especificidade ajuda a otimizar o diagnóstico e o manejo de doenças cardíacas desde a primeira infância.
🇧🇷 traduzidoTwo young athletes with Tetralogy of Fallot-stress echocardiography in therapeutic decision-making: a case report.
Em atletas com Tetralogia de Fallot, a excelente capacidade física pode mascarar a deterioração cardíaca precoce, dificultando o diagnóstico com métodos convencionais. A ecocardiografia de estresse (em esforço) surge como uma ferramenta essencial para médicos e pacientes, pois revela disfunções cardíacas ocultas — como a dessincronia biventricular — que seriam imperceptíveis em repouso. Esta avaliação detalhada permite decisões terapêuticas mais precisas, como a indicação de troca valvar, otimizando o acompanhamento e o tratamento para garantir a saúde cardíaca a longo prazo desses pacientes.
🇧🇷 traduzidoPublicações recentes
Single-cell omics uncovers novel pathological mechanisms and therapeutic targets for congenital heart diseases: insights from integrated intercellular communication analysis.
"Correlation of right ventricular volumes and ejection fraction by 3D echo and cardiac MRI in postoperative tetralogy of Fallot patients with free pulmonary valve regurgitation.".
Spectrum of Congenital Heart Diseases in Iraqi Patients.
MorphiNet: A Graph Subdivision Network for Adaptive Bi-ventricle Surface Reconstruction.
📖 Revisão📚 EuropePMC6.874 artigos no totalmostrando 196
Not just palliation: integrating patent ductus arteriosus and right ventricular outflow tract stenting into modern surgical pathways for tetralogy of Fallot.
Cardiology in the youngLeft ventricular quantification in repaired tetralogy of Fallot: two-dimensional echocardiography versus cardiovascular magnetic resonance.
The international journal of cardiovascular imagingTranscatheter Pulmonary Valve Replacement (TPVR): A Saudi Consensus Statement.
Journal of the Saudi Heart AssociationPersistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.
Journal of the Saudi Heart AssociationUtility of three-dimensional echocardiography for evaluating right ventricular size and function and ventricular myocardial deformation in repaired tetralogy of fallot.
PloS oneSurgical retrieval and repositioning of malpositioned prosthetic pulmonic valve in a patient with situs inversus dextrocardia and tetralogy of Fallot: a case report.
International journal of surgery case reportsComments on "Sex differences late after tetralogy of Fallot repair: a systematic review and meta-analysis".
Indian journal of thoracic and cardiovascular surgeryA New Treatment Paradigm for Tetralogy of Fallot/Absent Pulmonary Valve with Significant Airway Compromise - Addressing the Airway First.
The Annals of thoracic surgeryIncidence and Factors Associated with Neurological Complications Following Pediatric Heart Surgery: A Retrospective Study.
Journal of clinical medicineIsolated Transcatheter Tricuspid Valve Edge-to-Edge Repair in Repaired Tetralogy of Fallot.
JACC. Case reportsPalliative Balloon Pulmonary Valvotomy Enhances Immediate Postoperative Outcomes in Severely Cyanotic Patients With Tetralogy of Fallot.
World journal for pediatric & congenital heart surgery15O-water PET perfusion in complex congenital heart disease.
European heart journal. Imaging methods and practiceSurgical repair of a child with tetralogy of Fallot with absent left pulmonary artery: a case report.
International journal of surgery case reportsGenetic Syndromes Do Not Affect Survival but Increase Morbidity in Neonates with Symptomatic Tetralogy of Fallot.
The Journal of pediatricsInfective endocarditis in an adult male patient with tetralogy of Fallot physiology secondary to double outlet right ventricle presenting with stroke: a complex presentation with multiorgan dysfunction-a case report.
Journal of medical case reportsOptimal Size of Transannular Patches for Tetralogy of Fallot Repair.
Heart, lung & circulationEvaluation of the Venus P-valve for transcatheter pulmonary valve replacement in patients with right ventricular outflow tract dysfunction.
Future cardiologyVisualisation of cardiac magnetic resonance-based anatomic models in virtual reality to evaluate candidacy for transcatheter pulmonary valve replacement in surgically palliated right ventricular outflow tracts.
Cardiology in the youngAgreement between single and multiple ROI strategies for hepatic T1 and ECV mapping in tetralogy of Fallot and Fontan circulation.
Abdominal radiology (New York)Right ventricular outflow tract stenting for obstructive lesions in adult congenital heart disease.
International journal of cardiology. Congenital heart diseaseSurgical repair of Tetralogy of Fallot - Long-term outcomes into the second decade after transannular patch repair and annulus-sparing patch repair.
International journal of cardiology. Congenital heart diseasePulmonary vasomodulators in adults with repaired pulmonary atresia with ventricular septal defect: Single-center experience and review of literature.
International journal of cardiology. Congenital heart diseaseDynamics of matrix metalloproteinases and procollagen type-1 N-terminal propeptide following right ventricular outflow tract reconstruction: the protective mechanism of restrictive physiology.
Cardiology in the youngTranscatheter Pulmonary Artery Intervention in Tetralogy of Fallot With Pulmonary Atresia During Pregnancy.
JACC. Case reportsThe use of human decellularized amniotic membrane as pulmonary valve leaflets in right ventricular outflow tract reconstruction - an in vivo proof of concept study.
Frontiers in bioengineering and biotechnologyTransannular patch repair of tetralogy of Fallot.
Asian cardiovascular & thoracic annalsDevelopment of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.
Arquivos brasileiros de cardiologiaPreoperative decision tree model for predicting pulmonary valve-sparing repair in humanitarian pediatric tetralogy of fallot patients.
Journal of cardiothoracic surgeryExperience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.
Journal of cardiothoracic surgeryA Comparison of Treatment Options for Right Ventricular Outflow Tract Obstruction.
The Thoracic and cardiovascular surgeonIn silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.
Human mutationLate Diagnosis of Unroofed Coronary Sinus Associated with Persistent Left Superior Vena Cava in Patient with Repaired Tetralogy of Fallot: Case Report.
Life (Basel, Switzerland)Tetralogy of Fallot: Genetic, Epigenetic and Clinical Insights into a Multifactorial Congenital Heart Disease.
GenesOsteopathic Manipulative Treatment in 564 Children with Congenital Heart Disease: A Project Report.
Children (Basel, Switzerland)Long-Term Arrhythmic Complications in Patients with Repaired Tetralogy of Fallot: A Single-Center Experience from 1960 to the Present.
Pediatric cardiologyThe Hypoxic Link: Paragangliomas in Unrepaired Tetralogy of Fallot.
Radiology. Cardiothoracic imagingRight aortic arch with cervical origin of left subclavian artery: Unusual arch anomaly associated with tetralogy of Fallot.
Annals of pediatric cardiologyCase Report: A rare case of ANCA-positive Q fever endocarditis-associated glomerulonephritis.
Frontiers in medicineIncidence, risk factors, and outcome of early post-operative arrhythmia after open-heart surgery in the paediatric cardiac intensive care unit: a retrospective study.
Cardiology in the youngAge-dependent Dynamics of the Electrocardiographic Parameters in Cardiovascular Disease-Free Children.
medRxiv : the preprint server for health sciencesTwo young athletes with Tetralogy of Fallot-stress echocardiography in therapeutic decision-making: a case report.
European heart journal. Case reportsPersistent left superior vena cava as a potential arrhythmogenic substrate in a patient with repaired tetralogy of Fallot.
HeartRhythm case reportsComplete sternal cleft with pectus excavatum associated with tetralogy of Fallot.
Annals of pediatric cardiologyCritique on "determining the optimal timing for tetralogy of Fallot management: A meta-analysis of neonatal versus postneonatal repairs".
Annals of pediatric cardiologyKingella kingae Endocarditis and Septic Pulmonary Emboli in a 12-Year-Old Male With Repaired Tetralogy of Fallot and a Bioprosthetic Pulmonary Valve.
Case reports in cardiologyLate Gadolinium Enhancement in Repaired Tetralogy of Fallot May Overestimate Right Ventricular Myocardial Fibrosis.
Pediatric cardiology11-Year follow-up of percutaneous pulmonary valve implantation (PPVI) in central South Africa.
Cardiovascular journal of AfricaSuccessful transcatheter pulmonary valve implantation under elective extracorporeal membrane oxygenation in a patient with tetralogy of Fallot with biventricular failure and ventricular tachycardia: a case report.
European heart journal. Case reportsEsophageal erosion by a PDA occluder device following MAPC closure in tetralogy of Fallot.
Oxford medical case reportsEffect of the Implantation Angle on the Durability of a Bio-Prosthetic Pulmonary Valve in the Tetralogy of Fallot.
Korean circulation journalPrognostic Value of Cardiac MRI-derived Left Atrial and Biventricular Function in Children with Repaired Tetralogy of Fallot.
Radiology. Cardiothoracic imagingAn alternative surgical approach to redo pulmonary valve replacement: the vertical left axillary thoracotomy.
Cardiology in the youngDevelopment and multicentre validation of an artificial intelligence electrocardiogram model for ventricular remodeling in repaired tetralogy of Fallot.
European heart journal. Digital healthComputed tomography angiography imaging of double superior vena cava in a case of tetralogy of fallot.
Radiology case reportsLong-term Oral Management for 2q37 Deletion Syndrome Patient.
The Bulletin of Tokyo Dental College[Molecular mechanisms of the TRPV4-RhoA/ROCK1 signaling axis in mediating mechanical stress-induced myocardial fibrosis in fetuses with tetralogy of Fallot].
Zhonghua xin xue guan bing za zhiPulmonary Valve Replacement: Update on Timing and Ventricular Remodelling.
Journal of clinical medicineGenetic Syndromes and Multimorbidity in Adults with Congenital Heart Disease and Heart Failure: Insights from the PATHFINDER-CHD Registry.
Journal of clinical medicineExtracellular Matrix Tissue Patch for Pulmonary Artery Repair in Pediatric Cardiac Surgery: A Single-Center Experience.
Journal of clinical medicineStrain Analysis from Transverse CMR Cine Imaging in Congenital Heart Disease: Feasibility, Reproducibility, and Comparison to Global Longitudinal Strain.
Healthcare (Basel, Switzerland)Ultrasound-guided guidewire maneuver to resolve peritoneal drainage catheter obstruction in an infant: A case report.
Radiology case reportsArrhythmia Following Congenital Heart Disease Surgery in Oman: Incidence and risk factors - A prospective study.
Sultan Qaboos University medical journalImpact of right ventricular incision extent on early outcomes after tetralogy of Fallot repair: a two-center retrospective cohort study.
Frontiers in cardiovascular medicineSafety and Efficacy of HarmonyTM Transcatheter Pulmonary Valve Implantation - Clinical and Hemodynamic Assessment in a Single-Center Japanese Cohort.
Circulation journal : official journal of the Japanese Circulation SocietyEvaluation and application of electrocardiographic age model for children.
Scientific reportsTranscatheter pulmonary valve implantation in patients with repaired tetralogy of Fallot: International evidence and the current status in Japan.
Journal of cardiologyHybrid rule-based and on-premises LLM pipeline for extracting CMR and CPET metrics from free-text reports in repaired tetralogy of Fallot.
medRxiv : the preprint server for health sciencesBeyond Volume Criteria - Individualized Approach to Pulmonary Regurgitation in Tetralogy of Fallot and Related Diseases.
Circulation journal : official journal of the Japanese Circulation SocietySmaller Right Ventricle Results in Poorer Exercise Performance in Young Patients With Repaired Tetralogy of Fallot.
Circulation journal : official journal of the Japanese Circulation SocietyDiscovery Beyond the "Undiscovered Country": Re-Exploring the Right Ventricle Through Metabolomics and Cardiac Magnetic Resonance.
JACC. AsiaReference standards and diagnosis-specific trends in cardiorespiratory fitness in paediatric patients with repaired CHD.
Cardiology in the youngRecurrent left internal carotid artery stenosis in a patient with intrathoracic carotid bifurcation and right aortic arch.
NeuroradiologyA Rare Case of D-transposition of the Great Arteries (TGA) With Ventricular Septal Defect (VSD), Dysplastic Pulmonary Valve (Absent Pulmonary Valve Physiology), and Aortic Valve Stenosis in a Term Neonate.
CureusStrategies for preventing arrhythmic sudden death in adult congenital heart disease.
European heart journal supplements : journal of the European Society of CardiologyAntiarrhythmic Medications in Patients with Adult Congenital Heart Disease.
Cardiac electrophysiology clinicsIncidence, Progression, and Surgical Outcomes of Aortopathies in Adults With Congenital Heart Disease: A Systematic Review.
World journal for pediatric & congenital heart surgeryInfluence of Technical Performance Score on Outcomes After Tetralogy of Fallot Repair in a Low-Middle-Income Country.
World journal for pediatric & congenital heart surgeryAtrial Flutter Radiofrequency Ablation After Secondary Surgery in Adult Congenital Heart Disease.
JACC. Case reportsPrognostic value of fetal growth and prenatal functional echocardiography in tetralogy of FALLOT.
Acta obstetricia et gynecologica ScandinavicaIs Cyanosis Exposure Associated with Exercise Capacity or Daily Physical Activity in Children with Complex Congenital Heart Disease: A Cross-Sectional Study.
Children (Basel, Switzerland)The utility of 4D intracardiac echocardiography in transcatheter pulmonary valve replacement in adult congenital heart disease patients.
International journal of cardiology. Congenital heart diseaseResidual shunts after tetralogy of Fallot repair: two case illustrations and echocardiographic insights.
European heart journal. Case reportsFetal echocardiography: A nine-year experience at a single tertiary center.
Northern clinics of IstanbulCase Report: Low cardiac output syndrome with multisystem complications following total repair of tetralogy of fallot.
Frontiers in pediatricsProgression of cardiac remodelling in adolescents and adults with tetralogy of Fallot: Insights from serial magnetic resonance imaging.
Kardiologia polskaSymptomatic Pulmonary Regurgitation Without Right Ventricular Enlargement Accompanied by Biventricular Diastolic Dysfunction in Repaired Tetralogy of Fallot and Related Diseases.
Circulation journal : official journal of the Japanese Circulation SocietySurgical Rescue of Right Ventricular Outflow Tract Stent Malposition With Tricuspid Valve Compromise.
World journal for pediatric & congenital heart surgeryTranscatheter pulmonary valve implantation for re-intervention in recurrent right ventricular outflow tract obstruction.
Journal of cardiology casesA Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot.
Clinical case reportsBuilding Lifelong Management for the Right Ventricular Outflow Tract.
JACC. Cardiovascular interventionsLong-Term Outcomes After Melody Transcatheter Pulmonary Valve Implant in Patients Weighing ≤30 kg.
JACC. Cardiovascular interventionsAbsent ductus arteriosus in Tetralogy of Fallot: early outcomes from a matched fetal cohort study.
Cardiology in the young[Long-term management of right ventricular outflow tract dysfunction in repaired tetralogy of Fallot: an interpretation of the 2024 scientific statement from the American Heart Association].
Zhonghua xin xue guan bing za zhiAssessing liver disease in cyanotic CHD using multiparametric MRI: a call to prevent future burden.
Cardiology in the youngSurgical remodeling techniques for the right ventricle during pulmonary valve replacement.
Turk gogus kalp damar cerrahisi dergisiEchocardiographic Markers of Right Ventricle Diastolic Dysfunction in Neonates and Infants with Congenital Heart Disease.
Journal of clinical medicineMinimally Invasive Cardiac Surgery for Treating Tetralogy of Fallot in Children in the Modern Era.
The Annals of thoracic surgeryAn extremely rare tetralogy of Fallot with absent pulmonary valve and unilateral absence of the pulmonary artery: a rare report of De Bucket Syndrome.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyDNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Genome medicine4D Flow Yields Similar Clinical Results Compared To 2D Phase Contrast for Decision Making Regarding Pulmonary Valve Replacement in Repaired Tetralogy of Fallot.
Pediatric cardiologyImportance of clinical practice guidelines for specialized delivery room resuscitation of newborns with prenatally diagnosed critical congenital heart disease.
Journal of perinatology : official journal of the California Perinatal AssociationResults of right ventricular outflow tract stenting as a primary palliation in symptomatic children having Fallot type of lesion.
Cardiology in the youngImaging considerations in tetralogy of Fallot: A comprehensive review.
World journal of radiologyAplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.
The American journal of case reportsPulmonary Valve Replacement-Related Change in Biventricular Global Function Index in Repaired Tetralogy of Fallot.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceA Regional Approach to a Global Challenge: A Case Report of Caudal Anesthesia for Anoplasty in Tetralogy of Fallot With Pulmonary Atresia.
Clinical case reportsFactors Leading to Delay in Surgical Treatment of Paediatric Congenital Heart Diseases in Rural Western India - A Hospital-Based Study.
Nigerian medical journal : journal of the Nigeria Medical AssociationIdentification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Diagnostics (Basel, Switzerland)Artificial Intelligence in Tetralogy of Fallot: From Prenatal Diagnosis to Lifelong Management: A Narrative Review.
Bioengineering (Basel, Switzerland)Association of pulmonary arterial end-diastolic forward flow and right heart remodeling in dogs with congenital pulmonic stenosis and precapillary pulmonary hypertension.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary CardiologyExperiencia de implante percutáneo de válvula pulmonar en un hospital de referencia cardiovascular en Colombia. Serie de casos.
Archivos de cardiologia de MexicoTetralogy of Fallot with pulmonary atresia - Role of patent ductus arteriosus stenting as initial palliation.
Asian cardiovascular & thoracic annalsStandardized mortality ratio in adults with congenital heart disease.
European heart journal openArrhythmia mechanisms and results of transcatheter ablation therapy in patients diagnosed with CHD: the most difficult and dark side of paediatric electrophysiology.
Cardiology in the youngSex differences late after tetralogy of Fallot repair: a systematic review and meta-analysis.
Indian journal of thoracic and cardiovascular surgeryZ-Drug Use in the First Trimester of Pregnancy and Risk of Congenital Malformations.
JAMA psychiatryLate Repair of Native Pulmonary Valve for Severe Pulmonary Regurgitation After Transannular Patch Repair in Tetralogy of Fallot.
Annals of thoracic surgery short reports2025 ACC/AHA/HRS/ISACHD/SCAI Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Journal of the American College of CardiologyCatheter Ablation of Ventricular Arrhythmias in Patients With Congenital Heart Diseases: A Nationwide Prospective Study.
JACC. Clinical electrophysiologyDecision-making to use right ventricle to pulmonary artery conduit: Advantages of the expanded polytetrafluoroethylene valved conduit.
Asian cardiovascular & thoracic annalsClinical outcomes following surgical intervention for critical congenital heart disease in neonates: a retrospective study in China.
BMC pediatricsTranscatheter Implantation of Balloon-Expandable Valve in a Repaired Native Tricuspid Valve Without Annuloplasty Ring.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsBleeding and Thrombotic Challenges in Children with uncorrected Cyanotic Congenital Heart Diseases (CCHD)- Experience from a tertiary care pediatric hospital.
Pakistan journal of medical sciencesAntenatal spectrum of congenital heart disease: Experience from a Northern Indian referral unit.
BioinformationValve Creation From Atrial Appendage Tissue for Primary Repair of Tetralogy of Fallot in Infants.
JACC. Case reportsStructural birth defects and leukemia risk in children with Down syndrome.
Scientific reportsPulsed Field Ablation for Ventricular Arrhythmia in Repaired Tetralogy of Fallot.
JACC. Case reportsPrenatal Exposure to Antiseizure Medications and the Risk of Congenital Anomalies: A Nationwide Population-Based Study in South Korea.
NeurologyPalliative RVOT Stenting Using a Drug-Eluting Coronary Stent in a Preterm Neonate With Severe PS, VSD, and Bilateral Branch PA Stenosis: A Case Report.
Clinical case reportsImbalance of Fetal Growth Factor Levels in Congenital Heart Disease Pathology: A Systematic Review.
Birth defects researchFrom repair to right heart failure: Understanding the evolving landscape in tetralogy of fallot.
Heart failure reviewsPercutaneous Edge-to-Edge Repair of Atrioventricular Valves in Congenital Heart Disease: A Multicenter Clinical Experience.
JACC. AdvancesBiatrial Flutter in Repaired Tetralogy of Fallot: Complementary Role of Activation and Entrainment Mapping in Understanding the Mechanism of a Complex Atrial Arrhythmia.
JACC. Clinical electrophysiologySlow Conducting Anatomical Isthmus and VT Inducibility in Repaired Tetralogy of Fallot: It Takes More Than 2 to Tango.
JACC. Clinical electrophysiologyPulse Oximetry Screening for Critical Congenital Heart Defects: Effectiveness and Implementation across Clinical Settings.
Cardiology and cardiovascular medicineManaging Unrepaired Tetralogy of Fallot in Pregnancy: A Rare Case Defying Standard Cardiac Guidelines.
JACC. Case reportsNeopulmonary Valve Reconstruction Using Autologous Right Atrial Appendage: Early Single-Center Results.
World journal for pediatric & congenital heart surgeryIntegrated Open-Source Framework for Simulation of Transcatheter Pulmonary Valves in Native Right Ventricular Outflow Tracts.
ArXivEarly-Term Outcomes of Percutanous Pulmonary Valve Implantation With the Meril's Myval Pulmonary Valve-Single Center Experience From Turkey.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsRecurrent staphylococcus epidermidis prosthetic valve endocarditis with deep sternal infection in repaired tetralogy of fallot: A case report.
International journal of surgery case reportsShort- and Mid-term Cardiac Ventricular Remodelling After Pulmonary Valve Replacement in Adults With Repaired Tetralogy of Fallot.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryExercise Testing and Counseling in Patients with Tetralogy of Fallot: A Guide for the Pediatric and Congenital Cardiologist.
Pediatric cardiologyPreoperative Home Monitoring for Neonates and Young Infants With Tetralogy of Fallot.
The Journal of cardiovascular nursingVirtual Cath Lab: Versatile Open-Source Simulator for Education and Procedural Planning in Congenital Heart Interventions.
Journal of the Society for Cardiovascular Angiography & InterventionsClinical characteristics and outcomes of cardiovascular surgery and transcatheter procedures in adults with Down syndrome and congenital heart disease.
International journal of cardiology. Congenital heart diseaseBurden of diffuse myocardial fibrosis assessed by cardiac magnetic resonance in repaired tetralogy of Fallot: A systematic review and meta-analysis.
International journal of cardiology. Congenital heart diseaseA Case Series of Hypogonadism in 22q11.2 Deletion Syndrome: Is It Time to Check the Gonadal Axis?
Journal of investigative medicine high impact case reportsVortex formation of cardiac bilateral ventricles in fetuses with tetralogy of fallot assessed by blood speckle-tracking echocardiography.
BMC pregnancy and childbirthRight Ventricular Volume Unload: Transcatheter Tricuspid Valve Replacement in Congenital Heart Disease.
JACC. Case reportsMid- and Late-term Left Ventricular Diastolic Function After the Ross Procedure.
Pediatric cardiologyPrevalence and Patterns of Neuro-developmental problems among children with Congenital Heart Diseases attending a tertiary institution in South East Nigeria.
Malawi medical journal : the journal of Medical Association of MalawiIncidence, Risk Factors and Outcomes of Junctional Ectopic Tachycardia After Tetralogy of Fallot Repair in Pediatric Patients.
Children (Basel, Switzerland)Importance of Preoperative Left Ventricle Volume Assessment in Asymptomatic Tetralogy of Fallot Infants.
Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of AsiaNoninvasive Assessment of Right Ventricular-Pulmonary Arterial Coupling in Repaired Tetralogy of Fallot by Magnetic Resonance Imaging.
Journal of the American Heart AssociationAblation in Adult Congenital Heart Disease Using a Dual-Energy, Lattice-Tip, Large-Footprint, Map-and-Ablate Catheter.
JACC. Case reportsDual Disease Burden: Growing Older with Congenital Heart Disease and Hereditary Metabolic and Connective Tissue Disorders-Data from the PATHFINDER-CHD Registry on Heart Failure.
Geriatrics (Basel, Switzerland)The relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016.
Research in developmental disabilitiesInappropriate antibiotic prophylaxis before dental procedures in congenital heart disease: Insights from a nationwide Korean cohort.
Journal of infection and public healthA Paradigm Shift in Congenital Heart Disease: A Scientometric Portrait of the Rise of Computational Intelligence.
Pediatric cardiologyParallel Transcatheter Valve and Stent Placement with Subsequent Stent Occlusion to Address a Giant Dysfunctional RVOT in a Patient with Repaired Tetralogy of Fallot.
Pediatric cardiologyLate Outcomes After Infant Repair of Tetralogy of Fallot: Do Not "Burn After Reading".
The Annals of thoracic surgeryInterchangeable measure of pulmonary regurgitation in repaired tetralogy of Fallot: Comparison between serial cardiac CT and MRI.
European journal of radiologyMicroaxial Flow Pump-Protected Percutaneous Pulmonary Valve Replacement in High-Risk Patients With Severe Left Ventricular Dysfunction.
JACC. Case reportsTranscatheter Pulmonary Valve Replacement in an Extra-Large RVOT Using a Custom-Made Pulmonary Valve.
JACC. Case reportsThe analysis reveals novel hub genes and pathways associated with Tetralogy of Fallot.
Frontiers in cardiovascular medicineCardiovascular magnetic resonance 4D flow derived aortic and pulmonary wall shear stress in pediatric patients with repaired tetralogy of Fallot.
Frontiers in pediatricsRight ventricular outflow tract pseudoaneurysm in repaired of Tetralogy of Fallot.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyHigh risk and low incidence diseases: Cyanotic critical congenital heart disease.
The American journal of emergency medicineEarly Outcomes of Self-Expandable Versus Balloon-Expandable Valves for Managing Dysfunctional Right Ventricular Outflow Tracts.
Circulation. Cardiovascular interventionsChanges in right ventricular function on three-dimensional speckle tracking echocardiography after transcatheter pulmonary valve replacement.
Quantitative imaging in medicine and surgeryRole of balloon pulmonary valvuloplasty in symptomatic infants with tetralogy of Fallot awaiting intracardiac repair.
International journal of cardiology. Congenital heart diseaseArrhythmias in Congenital Heart Disease: Tetralogy of Fallot.
Cardiac electrophysiology clinicsSurgical Repair of Tetralogy of Fallot and a Large Congenital Diaphragmatic Hernia in a 16-Week-Old Infant With Pentalogy of Cantrell and a Large Omphalocele: A Case Report.
World journal for pediatric & congenital heart surgeryCase Report: a novel missense variant of FGD5 in a family with tetralogy of Fallot.
Frontiers in geneticsLeft Atrial Strain and History of Life-Threatening Arrhythmia in Adults with Repaired Tetralogy of Fallot: A Cardiovascular Magnetic Resonance Study.
Pediatric cardiologyFirst Reported Case of Simultaneous Transjugular Tricuspid Valve-in-Ring and Pulmonary Valve-in-Valve Implantation.
JACC. Case reportsAdult Congenital Heart Disease Complexity Restratification by Computed Tomography and/or Cardiac Magnetic Resonance.
Echocardiography (Mount Kisco, N.Y.)Evolution of Surgical Management in Tetralogy of Fallot: A Historical and Contemporary Review.
Heart views : the official journal of the Gulf Heart AssociationTiming and Mode of Death Following Treatment of Neonatal Symptomatic Tetralogy of Fallot.
Journal of the American Heart AssociationMYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Pediatric cardiologyTracheal Compression on Chest X-ray Leading to the Diagnosis of Right Aortic Arch in 22q11.2 Deletion Syndrome.
Cureus"Tricuspid valved patch" repair with a polytetrafluoroethylene valved conduit for right ventricular outflow reconstruction.
Annals of thoracic surgery short reportsAssociations Between Right Ventricular Remodeling, Exercise and Circulating Metabolites in Volume and Pressure Overload States.
JACC. AsiaAssociation of preoperative Circulating biomarkers with echocardiographic measures of right ventricular strain five years after tetralogy of fallot repair.
The international journal of cardiovascular imagingIncidentally detected congenital pericardial defect and anomalous great cardiac venous drainage in a patient of tetralogy of Fallot-a case report.
Indian journal of thoracic and cardiovascular surgeryConcurrence of double aortic arch in tetralogy of Fallot with absent pulmonary valve syndrome.
Indian journal of thoracic and cardiovascular surgeryTetralogy of Fallot: Multimodality Imaging and Key Historical Contributions to Diagnosis and Treatment.
Echocardiography (Mount Kisco, N.Y.)Pediatric cardiac surgery in Sudan before the 2023 armed conflict: patterns, outcomes, and quality indicators from a single-center experience in a low-resource setting.
BMC pediatricsTetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
Journal of human geneticsCongenital extrahepatic portosystemic shunts (Abernethy malformation): A report of two cases.
The Journal of international medical research[Agenesis of the left pulmonary artery with hypoplasia of the homolateral lung].
La Revue du praticienInvasive fungal infection in a neonate with tetralogy of Fallot after repeated right ventricle outflow tract stenting: diagnosis, treatment, monitoring, and therapeutic success.
Postepy w kardiologii interwencyjnej = Advances in interventional cardiologyDrug-Eluting Balloons Versus Conventional Balloon Angioplasty for Peripheral Pulmonary Artery Stenosis in Childhood.
Pediatric cardiologyAssociation Between G6PD Deficiency and Congenital Heart Disease Incidence and Hospital Outcomes.
Pediatric cardiologyThe Hidden Regulators: MicroRNAs in Pediatric Heart Development and Disease.
Journal of clinical medicineRisk stratification for sudden death in congenital heart disease: bridging evidence, uncertainty, and individual decision-making.
Current opinion in cardiologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Tetralogia de Fallot e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma cardiopatia congênita formada por quatro anomalias estruturais no coração presentes desde o nascimento. Ela inclui comunicação entre os ventrículos, estreitamento do fluxo pulmonar, má posição da aorta e aumento da parede do ventrículo direito.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Tetralogia de Fallot. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/tetralogia-de-fallot
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Tetralogia de Fallot
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
- Ensaios clínicos
- fonte: ClinicalTrials.gov
