RESUMO
BACKGROUND: Neurocognitive disorders frequently occur in patients with cyanotic congenital heart disease (CCHD) because of the hemodynamic abnormalities induced by preoperative cardiac structural changes. We aimed to evaluate subcortical nuclei volume changes and cognition in postoperative tetralogy of Fallot (TOF) children, and analyze their relationship with preoperative cardiac structural changes. METHODS: This case-control study involved thirty-six children with repaired TOF and twenty-nine healthy controls (HCs). We utilized three-dimensional (3D) T1-weighted high-resolution structural images alongside the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV) to evaluate the cognitive differences between the TOF and HC group. RESULTS: We observed notable differences in subcortical nuclei volume between the TOF and HC group, specifically in the left amygdala nucleus (LAM, TOF: 1292.60 ± 155.57; HC: 1436.27 ± 140.62, p < 0.001), left thalamus proper nucleus (LTHA, TOF: 6771.54 ± 666.03; HC: 7435.36 ± 532.84, p < 0.001), and right thalamus proper nucleus (RTHA, TOF: 6514.61 ± 715.23; HC: 7162.94 ± 554.60, p < 0.001). Furthermore, a diminished integrity of LAM ( ß:-19.828, 95% CI: -36.462, -3.193), which showed an inverse relationship with the size of the preoperative ventricular septal defect (VSD), correlated with lower working memory indices in children with TOF. CONCLUSIONS: Our findings indicate that subcortical nuclei structural injuries possibly potentially stemming from cardiac anatomical abnormalities, are associated with impaired working memory in preschool-aged children with TOF. The LAM in particular may serve as a potential biomarker for neurocognitive deficits in TOF, offering predictive value for future neurodevelopmental outcomes, and shedding light on the neurophysiological mechanisms of these cognitive impairments.
Assuntos
Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Pré-Escolar , Feminino , Masculino , Estudos Transversais , Estudos de Casos e Controles , Imageamento por Ressonância Magnética , Cognição/fisiologia , Procedimentos Cirúrgicos Cardíacos , Tonsila do Cerebelo/diagnóstico por imagem , Tonsila do Cerebelo/patologiaRESUMO
BACKGROUND: Tetralogy of Fallot (TOF) is typically treated in infancy but often done late in many resource-limited countries, jeopardizing surgical outcomes. This study examined the early results of children undergoing primary complete TOF repair at the Jakaya Kikwete Cardiac Institute (JKCI) in Tanzania, an emerging cardiac center in Eastern Africa. METHODS: A retrospective cohort study of children ≤ 18 years undergoing primary TOF complete repair between 2019 and 2021 was conducted. Patients with complex TOF and those with obvious genetic syndrome were excluded. Data on socio-demography, pre-and postoperative cardiac complications, Intensive Care Unit (ICU) and hospital stay, and in-hospital and 30-day mortality were analyzed. Logistic regressions were employed to find the factors for mortality, ICU, and hospital stays. RESULTS: The I02 children underwent primary TOF complete repair were majority male (65.7%; n = 67), with a median age of 3.0 years (IQR: 2-6), ranging from 3 months to 17 years.Only 20 patients (19.6%) were below one year of age. Almost all (90%; n = 92) were underweight, with a mean BMI of 14.6 + 3.1 kg/m2 Haematocrits were high, with a median of 48.7 (IQR: 37.4-59.0). The median oxygen saturation was 81% (IQR:72-93). Over a third of patients (38.2%; n = 39) needed Trans annular patch (TAP) during surgery. The median ICU stay was 72 h (IQR:48-120), with ICU duration exceeding three days for most patients. The median hospital stay was 8.5 days (IQR:7-11), with 70 patients (68.2%)experiencing an extended hospital stay of > 7 days. Bacterial sepsis was more common than surgical site infection (5.6%; n = 6 vs. 0.9%;n = 1). No patient needed re-operation for the period of follow up. The in-hospital mortality rate was 5.9%, with no deaths occurring in children less than one year of age nor after discharge during the 30-day follow-up period. No statistically significant differences were observed in outcomes in relation to age, sex, levels of hematocrit and saturations, presence of medical illnesses, and placement of TAP. CONCLUSION: TOF repairs in this African setting at a national cardiac referral hospital face challenges associated with patients' older age and compromised nutritional status during the surgery. Perioperative mortality rates and morbidity for patients operated at an older age remain elevated. It's important to address these issues to improve outcomes in these settings.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Mortalidade Hospitalar , Tempo de Internação , Complicações Pós-Operatórias , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/mortalidade , Estudos Retrospectivos , Masculino , Feminino , Tanzânia/epidemiologia , Pré-Escolar , Lactente , Criança , Resultado do Tratamento , Adolescente , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Fatores de Tempo , Complicações Pós-Operatórias/mortalidade , Fatores de Risco , Medição de RiscoRESUMO
BACKGROUND: Branch pulmonary artery (PA) stenosis is one of the most common indications for percutaneous interventions in patients with transposition of the great arteries (TGA), tetralogy of Fallot (ToF), and truncus arteriosus (TA). However, the effects of percutaneous branch PA interventions on exercise capacity remains largely unknown. In addition, there is no consensus about the optimal timing of the intervention for asymptomatic patients according to international guidelines. This trial aims to identify the effects of percutaneous interventions for branch PA stenosis on exercise capacity in patients with TGA, ToF, and TA. In addition, it aims to assess the effects on RV function and to define early markers for RV adaptation and RV dysfunction to improve timing of these interventions. METHODS: This is a randomized multicenter interventional trial. TGA, ToF, and TA patients ≥ 8 years with a class IIa indication for percutaneous branch PA intervention according to international guidelines are eligible to participate. Patients will be randomized into the intervention group or the control group (conservative management for 6 months). All patients will undergo transthoracic echocardiography, cardiac magnetic resonance (CMR) imaging, and cardiopulmonary exercise testing at baseline, 6 months, and 2-4 years follow-up. Quality of life (QoL) questionnaires will be obtained at baseline, 2 weeks post intervention or a similar range for the control group, and 6 months follow-up. The primary outcome is exercise capacity expressed as maximum oxygen uptake (peak VO2 as percentage of predicted). A total of 56 patients (intervention group n = 28, control group n = 28) is required to demonstrate a 14% increase in maximum oxygen uptake (peak VO2 as percentage of predicted) in the interventional group compared to the control group (power 80%, overall type 1 error controlled at 5%). Secondary outcomes include various parameters for RV systolic function, RV functionality, RV remodeling, procedural success, complications, lung perfusion, and QoL. DISCUSSION: This trial will investigate the effects of percutaneous branch PA interventions on exercise capacity in patients with TGA, ToF, and TA and will identify early markers for RV adaptation and RV dysfunction to improve timing of the interventions. TRIAL REGISTRATION: ClinicalTrials.gov NCT05809310. Registered on March 15, 2023.
Assuntos
Tolerância ao Exercício , Cardiopatias Congênitas , Estudos Multicêntricos como Assunto , Artéria Pulmonar , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Artéria Pulmonar/fisiopatologia , Cardiopatias Congênitas/fisiopatologia , Cardiopatias Congênitas/cirurgia , Resultado do Tratamento , Países Baixos , Estenose de Artéria Pulmonar/fisiopatologia , Estenose de Artéria Pulmonar/etiologia , Estenose de Artéria Pulmonar/diagnóstico por imagem , Função Ventricular Direita , Criança , Fatores de Tempo , Teste de Esforço , Masculino , Recuperação de Função Fisiológica , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/fisiopatologia , FemininoRESUMO
Ectopia cordis is a congenital heart malformation of the sternal wall, with a prevalence of 0.1% among heart conditions and an incidence of 5.5 to 7.9 per million births. It is characterized by the heart being located outside the thoracic cavity, and it may be accompanied by other congenital anomalies such as omphalocele, Cantrell´s pentalogy, or Fallot´s tetralogy. We present a case of thoracic ectopia cordis in a male neonate. After birth, we also observed a midline thoracic malformation and respiratory difficulties with clinical and paraclinical features consistent with tetralogy of Fallot. It was decided to provide skin flap coverage, and due to the poor prognosis of the heart condition, palliative care was chosen. Unfortunately, the neonate passed away after seven days. This clinical case study contributes to understanding this rare condition and may help improve diagnosis and treatment of affected patients.
La ectopia cordis es una malformación cardíaca congénita de la pared esternal, con una prevalencia del 0,1%, e incidencia del 5,5 al 7,9 por millón de nacimientos. Se caracteriza por situar al corazón fuera de la cavidad torácica, puede acompañarse de otras anomalías congénitas como onfalocele, pentalogía de Cantrell o tetralogía de Fallot. Presentamos un caso de ectopia cordis torácica en un recién nacido de sexo masculino. Después del nacimiento, también observamos una malformación de la línea media torácica y dificultad respiratoria con características clínicas y paraclínicas compatibles con tetralogía de Fallot. Se realizó una cobertura con colgajo cutáneo, y debido al mal pronóstico, se optó por cuidados paliativos; con fallecimiento después de siete días. Este estudio de caso clínico contribuye a la comprensión de esta rara enfermedad, y puede ayudar a mejorar el diagnóstico y tratamiento de los pacientes afectados.
Assuntos
Ectopia Cordis , Humanos , Ectopia Cordis/diagnóstico , Ectopia Cordis/cirurgia , Masculino , Recém-Nascido , Evolução Fatal , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/diagnóstico , Cuidados Paliativos , Retalhos Cirúrgicos , PrognósticoRESUMO
OBJECTIVES: While significant evidence supports the benefits of normothermic cardiopulmonary bypass (NCPB) over hypothermic techniques, many institutions in developing countries, including ours, continue to employ hypothermic methods. This study aimed to assess the early postoperative outcomes of normothermic cardiopulmonary bypass (NCPB) for complete surgical repair via the Tetralogy of Fallot (TOF) within our national context. METHODS: We conducted this study in the Pediatric Cardiac Intensive Care Unit (PCICU) at the University Children's Hospital. One hundred patients who underwent complete TOF repair were enrolled and categorized into two groups: the normothermic group (n = 50, temperature 35-37 °C) and the moderate hypothermic group (n = 50, temperature 28-32 °C). We evaluated mortality, morbidity, and postoperative complications in the PCICU as outcome measures. RESULTS: The demographic characteristics were similar between the two groups. However, the cardiopulmonary bypass (CPB) time and aortic cross-clamp (ACC) time were notably longer in the hypothermic group. The study recorded seven deaths, yielding an overall mortality rate of 7%. No significant differences were observed between the two groups concerning mortality, morbidity, or postoperative complications in the PCICU. CONCLUSIONS: Our findings suggest that normothermic procedures, while not demonstrably effective, are safe for pediatric cardiac surgery. Further research is warranted to substantiate and endorse the adoption of this technique.
Assuntos
Ponte Cardiopulmonar , Países em Desenvolvimento , Complicações Pós-Operatórias , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Masculino , Feminino , Lactente , Complicações Pós-Operatórias/epidemiologia , Pré-Escolar , Hipotermia Induzida , Resultado do Tratamento , Criança , Estudos Retrospectivos , Procedimentos Cirúrgicos Cardíacos/métodos , Unidades de Terapia Intensiva PediátricaRESUMO
Tetralogy of Fallot is a congenital heart disease affecting newborns and involves stenosis of the right ventricular outflow tract (RVOT). Surgical correction often widens the RVOT with a transannular enlargement patch, but this causes issues including pulmonary valve insufficiency and progressive right ventricle failure. A monocusp valve can prevent pulmonary regurgitation; however, valve failure resulting from factors including leaflet design, morphology, and immune response can occur, ultimately resulting in pulmonary insufficiency. A multimodal platform to quantitatively evaluate the effect of shape, size, and material on clinical outcomes could optimize monocusp design. This study introduces a benchtop soft biorobotic heart model, a computational fluid model of the RVOT, and a monocusp valve made from an entirely biological cell-assembled extracellular matrix (CAM) to tackle the multifaceted issue of monocusp failure. The hydrodynamic and mechanical performance of RVOT repair strategies was assessed in biorobotic and computational platforms. The monocusp valve design was validated in vivo in ovine models through echocardiography, cardiac magnetic resonance, and catheterization. These models supported assessment of surgical feasibility, handling, suturability, and hemodynamic and mechanical monocusp capabilities. The CAM-based monocusp offered a competent pulmonary valve with regurgitation of 4.6 ± 0.9% and a transvalvular pressure gradient of 4.3 ± 1.4 millimeters of mercury after 7 days of implantation in sheep. The biorobotic heart model, in silico analysis, and in vivo RVOT modeling allowed iteration in monocusp design not now feasible in a clinical environment and will support future surgical testing of biomaterials for complex congenital heart malformations.
Assuntos
Materiais Biocompatíveis , Simulação por Computador , Hemodinâmica , Tetralogia de Fallot , Animais , Tetralogia de Fallot/cirurgia , Ovinos , Materiais Biocompatíveis/química , Modelos Animais de DoençasRESUMO
BACKGROUND: Following surgical repair in infancy, a high proportion of children born with tetralogy of Fallot are surviving into adulthood, and it is important that these patients are monitored by an adult congenital heart disease specialist for problems and complications that can occur in the adult patient. OBJECTIVE: To provide an overview on the management of adult patients with repaired tetralogy of Fallot and emphasise the need for specialist follow-up. DISCUSSION: Following surgical repair of tetralogy of Fallot, it is important to have lifelong surveillance in adulthood for complications such as pulmonary valve dysfunction. Modern imaging modalities have helped with monitoring and the early detection of problems. Cardiac surgery has been refined over the years, leading to improved longevity. Over the past 23 years, percutaneous interventions have been developed to deal with valve complications and the results have been promising. Healthy behaviour, such as regular exercise, and behaviours to minimise the risk of endocarditis should be encouraged. Regular follow-up with an adult congenital heart disease specialist is important. Patients wishing to undertake a pregnancy should be supervised through a high-risk pregnancy clinic.
Assuntos
Tetralogia de Fallot , Humanos , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/complicações , Tetralogia de Fallot/cirurgia , Adulto , FemininoRESUMO
ABSTRACT: Peri-operative management of cyanotic congenital heart disease in a patient of sickle cell disease (SCD) can be challenging. We report a case of Tetralogy of Fallot and homozygous SCD with history of multiple blood transfusions and sickle cell crises who underwent intracardiac repair. Hemoglobin S level was reduced from 75% pre-operative to 21.8% postoperative with a combination of pre-operative blood transfusion, intraoperative exchange transfusion, and normothermic cardiopulmonary bypass (CPB). Pre-operative optimization and safe intraoperative conduct were essential to avoid sickling crises.
Assuntos
Anemia Falciforme , Ponte Cardiopulmonar , Assistência Perioperatória , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/complicações , Anemia Falciforme/complicações , Assistência Perioperatória/métodos , Ponte Cardiopulmonar/métodos , Transfusão de Sangue/métodos , Masculino , FemininoRESUMO
BACKGROUND: There are limited data about the impact of timing of pulmonary valve replacement (PVR) on right heart reverse remodeling in patients with pulmonary regurgitation following intervention for isolated pulmonary valve stenosis (PS). This study compared differences in postprocedural right heart reverse remodeling after early versus late PVR (defined as PVR before versus after attainment of the conservative consensus criteria proposed by Bokma et al, 2018) in patients with prior intervention for PS, using patients with tetralogy of Fallot as the reference group. METHOD AND RESULTS: Right atrial reservoir strain and right ventricular free wall strain was measured at baseline, 1 and 3 years after PVR. There were 114 patients with PS (early PVR, 87 [76%]; late PVR, 27 [24%]) and 291 patients with tetralogy of Fallot (early PVR, 197 [67%]; late PVR, 96 [33%]). The PS group had greater improvement in right atrial reservoir strain at 1 year (12%±4% versus 8%±4%; P<0.001) and 3 years (15%±6% versus 9%±6%; P<0.001), and a greater improvement in right ventricular free wall strain at 1 year (12%±4% versus 7%±3%, P=0.008) and 3-years (16%±6% versus 12%±5%; P=0.01) after PVR compared with the tetralogy of Fallot group. There was no difference in right heart reverse remodeling between patients who underwent early versus later PVR within the PS group. In contrast, late PVR was associated with less right heart reverse remodeling within the tetralogy of Fallot group. CONCLUSIONS: These data suggest that patients with palliated PS presenting pulmonary regurgitation have a more benign clinical course, and hence delaying PVR in this population may be appropriate.
Assuntos
Implante de Prótese de Valva Cardíaca , Estenose da Valva Pulmonar , Valva Pulmonar , Tetralogia de Fallot , Função Ventricular Direita , Remodelação Ventricular , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/complicações , Estenose da Valva Pulmonar/cirurgia , Estenose da Valva Pulmonar/fisiopatologia , Estenose da Valva Pulmonar/complicações , Masculino , Feminino , Função Ventricular Direita/fisiologia , Valva Pulmonar/cirurgia , Valva Pulmonar/fisiopatologia , Adulto , Insuficiência da Valva Pulmonar/fisiopatologia , Insuficiência da Valva Pulmonar/cirurgia , Insuficiência da Valva Pulmonar/etiologia , Resultado do Tratamento , Adulto Jovem , Fatores de Tempo , Estudos Retrospectivos , AdolescenteRESUMO
BACKGROUND: Pulmonary valve regurgitation is a significant long-term complication in patients with tetralogy of Fallot (TOF). OBJECTIVE: This study aims to investigate the effects of pulmonary valve implantation (PVI) on the anatomy and function of the right ventricle (RV) and the long-term evolution of the implanted prosthesis in the pulmonary position. METHODS: A single-center retrospective cohort analysis was performed in 56 consecutive patients with TOF who underwent PVI. The study included patients of both sexes, aged ≥ 12 years, and involved assessing clinical and surgical data, pre- and post-operative cardiovascular magnetic resonance imaging, and echocardiogram data more than 1 year after PVI. RESULTS: After PVI, there was a significant decrease in RV end-systolic volume indexed by body surface area (BSA), from 89 mL/BSA to 69 mL/BSA (p < 0.001) and indexed RV end-diastolic volume, from 157 mL/BSA to 116 mL/BSA (p < 0.001). Moreover, there was an increase in corrected RV ejection fraction [ RVEFC = net pulmonary flow (pulmonary forward flow - regurgitant flow) / R V end-diastolic volume ] from 23% to 35% (p < 0.001) and left ventricular ejection fraction from 58% to 60% (p = 0.008). However, a progressive increase in the peak pulmonary valve gradient was observed over time, with 25% of patients experiencing a gradient exceeding 60 mmHg. Smaller prostheses (sizes 19 to 23) were associated with a 4.3-fold higher risk of a gradient > 60 mmHg compared to larger prostheses (sizes 25 to 27; p = 0.029; confidence interval: 1.18 to 17.8). CONCLUSION: As expected, PVI demonstrated improvements in RV volumes and function. Long-term follow-up and surveillance are crucial for assessing the durability of the prosthesis and detecting potential complications. Proper sizing of prostheses is essential for improved prosthesis longevity.
Assuntos
Implante de Prótese de Valva Cardíaca , Próteses Valvulares Cardíacas , Insuficiência da Valva Pulmonar , Valva Pulmonar , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/diagnóstico por imagem , Masculino , Feminino , Estudos Retrospectivos , Insuficiência da Valva Pulmonar/cirurgia , Insuficiência da Valva Pulmonar/fisiopatologia , Insuficiência da Valva Pulmonar/diagnóstico por imagem , Insuficiência da Valva Pulmonar/etiologia , Valva Pulmonar/cirurgia , Valva Pulmonar/diagnóstico por imagem , Valva Pulmonar/fisiopatologia , Resultado do Tratamento , Adulto , Adolescente , Adulto Jovem , Fatores de Tempo , Criança , Ecocardiografia , Função Ventricular Direita/fisiologia , Volume Sistólico/fisiologia , Ventrículos do Coração/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Imageamento por Ressonância Magnética , Período Pós-OperatórioRESUMO
INTRODUCTION: Pulmonary regurgitation (PR) remains a common sequela in patients following surgically corrected TOF, and may lead to progressive right ventricle dilatation and dysfunction. The conventional approach of redo-sternotomy for pulmonary valve replacement (PVR) is associated with increased operative time as well as risks of bleeding and injury to the heart and great vessels. Thus, left anterior mini-thoracotomy has become an alternative approach in eliminating the risks of redo-sternotomy in these patients. This series aimed to determine the outcomes of minimally invasive pulmonary valve replacement after surgical TOF correction. METHODS: A retrospective analysis was conducted on 24 patients with severe PR post-surgical TOF correction who underwent left anterior mini-thoracotomy PVR in Penang General Hospital from January 2021 to January 2023. RESULTS: The median age was 23.5 years (I.Q.range 17.6-36.3), with a male:female ratio of 1:4. Majority of patients had mild to moderate symptoms prior to surgery and 19 patients (79.1%) were on regular diuretics medication. All patients had severe free-flow PR with evidence of right ventricular dilatation and dysfunction. Magnetic Resonance Imaging and computed tomography of pulmonary artery were performed prior to surgery. Minimally invasive PVR was performed on all patients via left upper anterior mini-thoracotomy and femoral-femoral bypass without cardioplegic arrest. The operative time and cardiopulmonary bypass time were 208 (I.Q.range 172-324) and 98.6 minutes(I.Q.range 87.4-152.4) respectively. The time to wean off inotropes postoperatively was 6.2 hours (I.Q.range1.4-14.8), and no postoperative arrhythmia and chest re-exploration were reported. Most patients stayed in Intensive Care Unit (ICU) for 10.8 hours (I.Q.range 8.4-36.5), and the total hospital stay was 4.2 days (I.Q.range 3.4-7.6). 2 patients (11.1%) required blood transfusion postoperative. There was no paravalvular leak and no mortality during the follow-up period of up to 28 months. CONCLUSION: Minimally invasive PVR after surgical correction of TOF is a safe alternative to the conventional redo-sternotomy approach in patients with favorable anatomy. This approach is able to reduce the risks associated with redo-sternotomy, particularly bleeding and injury to mediastinal structures, with the additional benefit of expedited recovery and hospital discharge. Our series has shown a safe and efficient approach in these patients with favorable outcomes.
Assuntos
Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Pulmonar , Tetralogia de Fallot , Toracotomia , Humanos , Masculino , Feminino , Tetralogia de Fallot/cirurgia , Estudos Retrospectivos , Adulto , Toracotomia/métodos , Adolescente , Implante de Prótese de Valva Cardíaca/métodos , Adulto Jovem , Insuficiência da Valva Pulmonar/cirurgia , Insuficiência da Valva Pulmonar/etiologia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Valva Pulmonar/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Robust risk assessment is crucial for the growing repaired tetralogy of Fallot population at risk of major adverse clinical outcomes; however, current tools are hindered by lack of validation. This study aims to develop and validate a risk prediction model for death in the repaired tetralogy of Fallot population. METHODS AND RESULTS: Patients with repaired tetralogy of Fallot enrolled in the INDICATOR (International Multicenter Tetralogy of Fallot Registry) cohort with clinical, arrhythmia, cardiac magnetic resonance, and outcome data were included. Patients from London, Amsterdam, and Boston sites were placed in the development cohort; patients from the Toronto site were used for external validation. Multivariable Cox regression was used to evaluate factors associated with time from cardiac magnetic resonance until the primary outcome: all-cause death. Of 1552 eligible patients (n=1221 in development, n=331 in validation; median age at cardiac magnetic resonance 23.4 [interquartile range, 15.6-35.6] years; median follow up 9.5 years), 102 (6.6%) experienced the primary outcome. The multivariable Cox model performed similarly during development (concordance index, 0.83 [95% CI, 0.78-0.88]) and external validation (concordance index, 0.80 [95% CI, 0.71-0.90]) and identified older age at cardiac magnetic resonance, obesity, type of tetralogy of Fallot repair, higher right ventricular end-systolic volume index, and lower biventricular global function index as independent predictors of death. A risk-scoring algorithm dividing patients into low-risk (score ≤4) versus high-risk (score >4) groups was validated to effectively discriminate risk of death (15-year survival of 95% versus 74%, respectively; P<0.001). CONCLUSIONS: This externally validated mortality risk prediction algorithm can help identify vulnerable patients with repaired tetralogy of Fallot who may benefit from targeted interventions.
Assuntos
Sistema de Registros , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/mortalidade , Masculino , Feminino , Medição de Risco/métodos , Adulto , Adolescente , Adulto Jovem , Fatores de Risco , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Reprodutibilidade dos Testes , Fatores de Tempo , Valor Preditivo dos Testes , Causas de MorteRESUMO
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome. In addition, the left and right main pulmonary arteries may be stenotic or hypoplastic. In these cases, there may be major aortopulmonary collateral arteries (MAPCAs) which are vessels arising from the aorta or the subclavian arteries that supply segments of the pulmonary arterial tree. Additional variations include an ASD (Pentalogy of Fallot), a right aortic arch, and coronary abnormalities.
Assuntos
Dupla Via de Saída do Ventrículo Direito , Tetralogia de Fallot , Tetralogia de Fallot/diagnóstico por imagem , Humanos , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/cirurgiaRESUMO
Tetralogy of Fallot and double-outlet right ventricle are outflow tract (OFT) alignment defects situated on a continuous disease spectrum. A myriad of upstream causes can impact on ventriculoarterial alignment that can be summarized as defects in either i) OFT elongation during looping morphogenesis or ii) OFT remodeling during cardiac septation. Embryological processes underlying these two developmental steps include deployment of second heart field cardiac progenitor cells, establishment and transmission of embryonic left/right information driving OFT rotation and OFT cushion and valve morphogenesis. The formation and remodeling of pulmonary trunk infundibular myocardium is a critical component of both steps. Defects in myocardial, endocardial, or neural crest cell lineages can result in alignment defects, reflecting the complex intercellular signaling events that coordinate arterial pole development. Importantly, however, OFT alignment is mechanistically distinct from neural crest-driven OFT septation, although neural crest cells impact indirectly on alignment through their role in modulating signaling during SHF development. As yet poorly understood nongenetic causes of alignment defects that impact the above processes include hemodynamic changes, maternal exposure to environmental teratogens, and stochastic events. The heterogeneity of causes converging on alignment defects characterizes the OFT as a hotspot of congenital heart defects.
Assuntos
Modelos Animais de Doenças , Dupla Via de Saída do Ventrículo Direito , Transdução de Sinais , Tetralogia de Fallot , Tetralogia de Fallot/genética , Tetralogia de Fallot/patologia , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/embriologia , Animais , Dupla Via de Saída do Ventrículo Direito/genética , Dupla Via de Saída do Ventrículo Direito/patologia , Dupla Via de Saída do Ventrículo Direito/fisiopatologia , Humanos , Crista Neural/metabolismo , Crista Neural/patologia , Crista Neural/embriologia , Morfogênese/genéticaRESUMO
Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare single nucleotide variations affecting distinct genes. For example, mutations in the cardiac transcription factors NKX2-5, GATA4, and HAND2 have been identified in isolated TOF cases, while mutations of TBX5 and 22q11 deletion, leading to haploinsufficiency of TBX1, cause Holt-Oram and DiGeorge syndrome, respectively. Moreover, genes involved in signaling pathways, laterality determination, and epigenetic mechanisms have also been found mutated in TOF and/or DORV patients. Finally, genome-wide association studies identified common single nucleotide polymorphisms associated with the risk for TOF.
Assuntos
Dupla Via de Saída do Ventrículo Direito , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/genética , Dupla Via de Saída do Ventrículo Direito/genética , Mutação , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/genética , Fatores de Transcrição/genéticaRESUMO
BACKGROUND: Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease (CHD) worldwide. It accounts for 7% of CHD cases in Uganda and leads to fatal outcomes in the long term without surgery. Surgery is often delayed in developing countries like Uganda due to limited resources. OBJECTIVE: This study aimed to determine the early surgical outcomes of patients with TOF who underwent primary intracardiac repair at the Uganda Heart Institute (UHI) and to identify factors associated. METHODOLOGY: This retrospective chart review evaluated outcomes of primary TOF repair patients at UHI from February 2012 to October 2022. Patient outcomes were assessed from surgery until 30 days post-operation. RESULTS: Out of the 104 patients who underwent primary TOF repair at UHI, records of 88 patients (84.6%) were available for review. Males accounted for 48.9% (n = 43). The median age at the time of operation was 4 years (with an interquartile range of 2.5-8.0 years), ranging from 9 months to 16 years. Genetic syndromes were present in 5/88 (5.7%). These included 2 patients with trisomy 21, 2 with Noonan's, and 1 with 22q11.2 deletion syndrome. Early postoperative outcomes for patients included: residual ventricular septal defects in 35/88 (39.8%), right ventricular dysfunction in 33/88 (37.5%), residual pulmonary regurgitation in 27/88 (30.7%), residual right ventricular outflow tract obstruction in 27/88 (30.0%), pleural effusion in 24/88 (27.3%), arrhythmias in 24/88(27.3%), post-operative infections in 23/88(26.1%) and left ventricular systolic dysfunction in 9/88 (10.2%). Out of the children who underwent surgery after one year of age, 8% (7 children) died within the first 30 days. There was a correlation between mortality and post-operative ventilation time, cardiopulmonary bypass (CPB) time, aortic cross-clamp time, preoperative oxygen saturations, RV and LV dysfunction and the operating team. CONCLUSION: The most frequent outcomes after surgery were residual ventricular septal defects and right ventricular failure. In our study, the 30-day mortality rate following TOF repair was 8%. Deceased patients had lower pre-operative oxygen levels, longer CPB and cross-clamp times, longer post-operative ventilation, RV/LV dysfunction, and were more likely operated by the local team.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Complicações Pós-Operatórias , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/mortalidade , Tetralogia de Fallot/diagnóstico , Masculino , Estudos Retrospectivos , Feminino , Uganda/epidemiologia , Pré-Escolar , Criança , Adolescente , Lactente , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Resultado do Tratamento , Fatores de Tempo , Fatores de Risco , Complicações Pós-Operatórias/mortalidade , Medição de RiscoAssuntos
Implante de Prótese de Valva Cardíaca , Valva Pulmonar , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/complicações , Tetralogia de Fallot/fisiopatologia , Masculino , Valva Pulmonar/cirurgia , Valva Pulmonar/diagnóstico por imagem , Valva Pulmonar/fisiopatologia , Feminino , Implante de Prótese de Valva Cardíaca/efeitos adversos , Taquicardia Ventricular/fisiopatologia , Taquicardia Ventricular/cirurgia , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/etiologia , Valor Preditivo dos Testes , Adolescente , Adulto Jovem , Adulto , Insuficiência da Valva Pulmonar/cirurgia , Insuficiência da Valva Pulmonar/fisiopatologia , Insuficiência da Valva Pulmonar/diagnóstico por imagem , Insuficiência da Valva Pulmonar/etiologia , Insuficiência da Valva Pulmonar/diagnóstico , Imagem Cinética por Ressonância Magnética , Criança , Resultado do TratamentoRESUMO
OBJECTIVE: To test the hypothesis that neonates with symptomatic tetralogy of Fallot (TOF) and absent ductus arteriosus (ADA) have worse clinical outcomes compared with those with a ductus arteriosus (DA), and that this difference is driven by those born with ADA and with critically deficient pulmonary blood flow (CDPBF). STUDY DESIGN: We performed a retrospective, multicenter cohort study of neonates who underwent intervention for symptomatic TOF comparing death and reintervention between subjects with and without a DA identified on fetal echocardiogram or on echocardiogram performed in the first postnatal day. Exclusion criteria were as follows: inability to define DA status, collaterals supplying pulmonary blood flow, atrioventricular septal defect, and absent pulmonary valve. We defined CDPBF as undergoing a procedure to augment pulmonary blood flow on the date of birth or extracorporeal membrane oxygenation prior to such a procedure. RESULTS: The study cohort included 519 patients, among whom 11% had ADA. Patients with ADA were more likely to have a genetic syndrome and had smaller branch pulmonary artery size. In analyses adjusting for center, interventional treatment strategy, genetic syndrome, and minimum branch pulmonary artery size, ADA was associated with higher mortality risk (adjusted hazard ratio of 2.37 (95% CI: 1.07,5.27; P = .034). Seven patients had CDPBF (1.3% of the entire cohort and 12% of patients with ADA). CONCLUSIONS: A minority of symptomatic TOF neonates have ADA, which is associated with higher adjusted mortality risk compared with those with a DA. CDPBF appears to be a rare but important entity in this population.
Assuntos
Tetralogia de Fallot , Humanos , Tetralogia de Fallot/mortalidade , Estudos Retrospectivos , Recém-Nascido , Feminino , Masculino , Ecocardiografia , Estudos de Coortes , Canal Arterial/diagnóstico por imagem , Resultado do TratamentoRESUMO
When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned.