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F1000Research 2019Tetralogy of Fallot (ToF) is the most common type of cyanotic congenital heart disease. Since the first surgical repair in 1954, treatment has continuously improved. The... (Review)
Review
Tetralogy of Fallot (ToF) is the most common type of cyanotic congenital heart disease. Since the first surgical repair in 1954, treatment has continuously improved. The treatment strategies currently used in the treatment of ToF result in excellent long-term survival (30 year survival ranges from 68.5% to 90.5%). However, residual problems such as right ventricular outflow tract obstruction, pulmonary regurgitation, and (ventricular) arrhythmia are common and often require re-interventions. Right ventricular dysfunction can be seen following longstanding pulmonary regurgitation and/or stenosis. Performing pulmonary valve replacement or relief of pulmonary stenosis before irreversible right ventricular dysfunction occurs is important, but determining the optimal timing of pulmonary valve replacement is challenging for several reasons. The biological mechanisms underlying dysfunction of the right ventricle as seen in longstanding pulmonary regurgitation are poorly understood. Different methods of assessing the right ventricle are used to predict impending dysfunction. The atrioventricular, ventriculo-arterial and interventricular interactions of the right ventricle play an important role in right ventricle performance, but are not fully elucidated. In this review we present a brief overview of the history of ToF, describe the treatment strategies currently used, and outline the long-term survival, residual lesions, and re-interventions following repair. We discuss important remaining challenges and present the current state of the art regarding these challenges.
Topics: Cardiac Surgical Procedures; Humans; Pulmonary Valve Insufficiency; Survival Rate; Tetralogy of Fallot; Ventricular Dysfunction, Right
PubMed: 31508203
DOI: 10.12688/f1000research.17174.1 -
Lancet (London, England) Oct 2009Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Since... (Review)
Review
Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Since the first procedures in the 1950s, advances in the diagnosis, perioperative and surgical treatment, and postoperative care have been such that almost all those born with tetralogy of Fallot can now expect to survive to adulthood. The startling improvement in outcomes for babies born with congenital heart disease in general-and for those with tetralogy of Fallot in particular-is one of the success stories of modern medicine. Indeed, in many countries adults with tetralogy of Fallot outnumber children. Consequently, new issues have emerged, ranging from hitherto unpredicted medical complications to issues with training for caregivers and resource allocation for this population of survivors. Therefore, evolution of treatment, recognition of late complications, research on disease mechanisms and therapies-with feedback to changes in care of affected children born nowadays-are templates on which the timely discussion of organisation of care of those affected by congenital heart diseases from the fetus to the elderly can be based. Here, we focus on new developments in the understanding of the causes, diagnosis, early treatment, and late outcomes of tetralogy of Fallot, emphasising the continuum of multidisciplinary care that is necessary for best possible lifelong treatment of the 1% of the population born with congenital heart diseases.
Topics: Adult; Aftercare; Arrhythmias, Cardiac; Cardiac Catheterization; Causality; Child; Echocardiography; Heart Valve Prosthesis Implantation; Humans; Infant, Newborn; Patient Care Team; Perioperative Care; Prenatal Diagnosis; Preoperative Care; Prognosis; Pulmonary Valve Insufficiency; Survival Rate; Tetralogy of Fallot; Treatment Outcome
PubMed: 19683809
DOI: 10.1016/S0140-6736(09)60657-7 -
Orphanet Journal of Rare Diseases Jan 2009Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of... (Review)
Review
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. This combination of lesions occurs in 3 of every 10,000 live births, and accounts for 7-10% of all congenital cardiac malformations. Patients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22. The risk of recurrence in families is 3%. Useful diagnostic tests are the chest radiograph, electrocardiogram, and echocardiogram. The echocardiogram establishes the definitive diagnosis, and usually provides sufficient information for planning of treatment, which is surgical. Approximately half of patients are now diagnosed antenatally. Differential diagnosis includes primary pulmonary causes of cyanosis, along with other cyanotic heart lesions, such as critical pulmonary stenosis and transposed arterial trunks. Neonates who present with ductal-dependent flow to the lungs will receive prostaglandins to maintain ductal patency until surgical intervention is performed. Initial intervention may be palliative, such as surgical creation of a systemic-to-pulmonary arterial shunt, but the trend in centres of excellence is increasingly towards neonatal complete repair. Centres that undertake neonatal palliation will perform the complete repair at the age of 4 to 6 months. Follow-up in patients born 30 years ago shows a rate of survival greater than 85%. Chronic issues that now face such adults include pulmonary regurgitation, recurrence of pulmonary stenosis, and ventricular arrhythmias. As the strategies for surgical and medical management have progressed, the morbidity and mortality of those born with tetralogy of Fallot in the current era is expected to be significantly improved.
Topics: Adult; Genetic Counseling; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Prognosis; Tetralogy of Fallot; Ultrasonography
PubMed: 19144126
DOI: 10.1186/1750-1172-4-2 -
Diagnostic and Interventional Imaging May 2016Tetralogy of Fallot has a broad anatomical spectrum. In mild forms of the condition the obstruction is only located in the right ventricular infundibulum, whereas in... (Review)
Review
Tetralogy of Fallot has a broad anatomical spectrum. In mild forms of the condition the obstruction is only located in the right ventricular infundibulum, whereas in severe forms the pulmonary valve is atretic, the pulmonary arteries are absent and the lung is supplied by aorto-pulmonary collateral arteries. Surgical management differs from conventional surgery in the former situation, whereas in the latter it is complex and requires reconstruction of the pulmonary arteries (unifocalization) carried out in more than one stage and with a high morbidity rate. The key factors to establish before corrective surgery are the levels and degree of obstruction of the right ventricular outflow tract, the development of the pulmonary arteries and the presence of collateral arteries. The main role of magnetic resonance imaging along with that of computed tomography angiography are discussed and illustrated.
Topics: Adult; Cardiac Imaging Techniques; Echocardiography; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Magnetic Resonance Imaging, Cine; Preoperative Care; Prognosis; Tetralogy of Fallot; Tomography, X-Ray Computed; Ventricular Outflow Obstruction
PubMed: 26969119
DOI: 10.1016/j.diii.2016.01.009 -
Arquivos Brasileiros de Cardiologia Oct 2021
Topics: Humans; Palliative Care; Tetralogy of Fallot
PubMed: 34709293
DOI: 10.36660/abc.20210735 -
The Journal of Thoracic and... Nov 2021
Topics: Humans; Tetralogy of Fallot
PubMed: 33785215
DOI: 10.1016/j.jtcvs.2021.03.001 -
BMC Pregnancy and Childbirth Nov 2022Tetralogy of fallot (TOF) in the fetus is a typical congential heart disease that occurs during the early embryonic period, being characterized by the abnormal...
Tetralogy of fallot (TOF) in the fetus is a typical congential heart disease that occurs during the early embryonic period, being characterized by the abnormal development of conus arteriosus. The early diagnosis and prevention of fetal TOF is very important and there is a great need for exploring the pathogenesis of it in clinic. In this study, there were three cases being detected with TOF by fetal echocardiogram and confirmed by autopsy. We characterize the difference of expression of lncRNAs and mRNAs through sequencing analysis of 3 pairs of myocardial tissues of fetal TOF and those of age-matched controls. Compared with normal group, there were 94 differentially expressed lncRNAs and 83 mRNA transcripts in TOF (P < 0.05). Correlation analysis between lncRNA and mRNA further showed that differentially expressed lncRNA can be linked to mRNAs, suggesting the potential regulator role of lncRNA in mRNA expression. Our data serve as a fundamental resource for understanding the disease etiology of TOF.
Topics: Pregnancy; Female; Humans; RNA, Messenger; RNA, Long Noncoding; Tetralogy of Fallot; Fetus; Prenatal Diagnosis
PubMed: 36402964
DOI: 10.1186/s12884-022-05190-0 -
European Journal of Cardio-thoracic... Jul 2019Tetralogy of Fallot is characterized by anterocephalad deviation of the outlet septum, along with abnormal septoparietal trabeculations, which lead to subpulmonary...
OBJECTIVES
Tetralogy of Fallot is characterized by anterocephalad deviation of the outlet septum, along with abnormal septoparietal trabeculations, which lead to subpulmonary infundibular stenosis. Archives of retained hearts are an important resource for improving our understanding of congenital heart defects and their morphological variability. This study aims to define variations in aortic override, coronary arterial patterns and ventricular septal defects in tetralogy of Fallot as observed in a morphological archive, highlighting implications for surgical management.
METHODS
The Birmingham Children's Hospital archive contains 211 hearts with tetralogy of Fallot, of which 164 were analysed [69 (42.1%) unrepaired and 95 (57.9%) operated specimens]. A detailed morphological and geometric analysis was performed using a rigorous 5-layer review process.
RESULTS
Anomalies were observed in the orifices, origins and course of the coronary arteries: 20 hearts (13.0%) had more than 2 orifices and 3 hearts (1.9%) had a single orifice. In 7 hearts (4.3%), a coronary artery crossed the right ventricular outflow tract. The extent of aortic override ranged from 31.0% to 100% (median of 59.5%). The ventricular septal defect was most often perimembranous (139, 84.8%), but we also found muscular (14, 8.5%), atrioventricular (7, 4.3%) and doubly committed juxta-arterial (2, 1.2%) variants.
CONCLUSIONS
Anatomical variations are common and can impact surgical management. Anomalous coronary arteries may require a conduit rather than a transannular patch. Variability in aortic override determines the size of patch used to baffle blood to the aorta. The type of ventricular septal defect affects patch closure and the risk of postoperative conduction defects.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Coronary Vessel Anomalies; Coronary Vessels; Female; Humans; Infant; Infant, Newborn; Male; Tetralogy of Fallot
PubMed: 30657877
DOI: 10.1093/ejcts/ezy474 -
BMC Cardiovascular Disorders Jan 2019Advances in the medical and surgical management of Tetralogy of Fallot have led to marked increase of the number and age of survivors. Imaging in patients with Tetralogy... (Review)
Review
Advances in the medical and surgical management of Tetralogy of Fallot have led to marked increase of the number and age of survivors. Imaging in patients with Tetralogy of Fallot plays a crucial role in the diagnosis and follow up, and essentially guides management and intervention in this entity. This study systematically reviews the imaging modalities used in patients with Tetralogy of Fallot in the evaluation of preoperative and postoperative anatomic and hemodynamic lesions, as well as disease progression in this diagnosis. Various invasive and noninvasive imaging modalities, most commonly echocardiography and cardiovascular magnetic resonance, computed tomography and angiocardiography provide the imaging information required for diagnosis, management and follow up in Tetralogy of Fallot. The choice of the appropriate imaging tool or their combination is guided by the clinical question, the patient's clinical condition and contraindications as well as the strengths and weaknesses of each imaging modality. Tetralogy of Fallot is the most common complex congenital heart disease with long term survivors that need close follow up and complicated management, including multiple surgical and transcatheter interventions. Knowledge of the role and protocols of imaging in Tetralogy of Fallot is extremely important for the clinical as well as the imaging physician in order to optimize patients' management and long-term prognosis.
Topics: Cardiac Imaging Techniques; Cardiac Surgical Procedures; Computed Tomography Angiography; Coronary Angiography; Echocardiography; Humans; Magnetic Resonance Imaging; Postoperative Complications; Predictive Value of Tests; Retreatment; Tetralogy of Fallot; Time Factors; Treatment Outcome
PubMed: 30616556
DOI: 10.1186/s12872-018-0996-9 -
JACC. Cardiovascular Imaging Feb 2022This study sought to identify patients with repaired tetralogy of Fallot (rTOF) at high risk of death and malignant ventricular arrhythmia (VA).
OBJECTIVES
This study sought to identify patients with repaired tetralogy of Fallot (rTOF) at high risk of death and malignant ventricular arrhythmia (VA).
BACKGROUND
To date there is no robust risk stratification scheme to predict outcomes in adults with rTOF.
METHODS
Consecutive patients were prospectively recruited for late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) to define right and left ventricular (RV, LV) fibrosis in addition to proven risk markers.
RESULTS
The primary endpoint was all-cause mortality. Of the 550 patients (median age 32 years, 56% male), 27 died (mean follow-up 6.4 ± 5.8; total 3,512 years). Mortality was independently predicted by RVLGE extent, presence of LVLGE, RV ejection fraction ≤47%, LV ejection fraction ≤55%, B-type natriuretic peptide ≥127 ng/L, peak exercise oxygen uptake (V0) ≤17 mL/kg/min, prior sustained atrial arrhythmia, and age ≥50 years. The weighted scores for each of the preceding independent predictors differentiated a high-risk subgroup of patients with a 4.4%, annual risk of mortality (area under the curve [AUC]: 0.87; P < 0.001). The secondary endpoint (VA), a composite of life-threatening sustained ventricular tachycardia/resuscitated ventricular fibrillation/sudden cardiac death occurred in 29. Weighted scores that included several predictors of mortality and RV outflow tract akinetic length ≥55 mm and RV systolic pressure ≥47 mm Hg identified high-risk patients with a 3.7% annual risk of VA (AUC: 0.79; P < 0.001) RVLGE was heavily weighted in both risk scores caused by its strong relative prognostic value.
CONCLUSIONS
We present a score integrating multiple appropriately weighted risk factors to identify the subgroup of patients with rTOF who are at high annual risk of death who may benefit from targeted therapy.
Topics: Adult; Contrast Media; Female; Gadolinium; Heart Ventricles; Humans; Male; Middle Aged; Predictive Value of Tests; Tetralogy of Fallot
PubMed: 34656466
DOI: 10.1016/j.jcmg.2021.07.026