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1.
BMC Pediatr ; 24(1): 499, 2024 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-39097678

RESUMO

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 Pediátrica
2.
Sci Transl Med ; 16(755): eadk2936, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38985852

RESUMO

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 Doenças
3.
J Cardiothorac Surg ; 19(1): 427, 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38982433

RESUMO

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 Tratamento
4.
Ann Card Anaesth ; 27(3): 274-276, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38963368

RESUMO

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 , Feminino
5.
Aust J Gen Pract ; 53(7): 449-452, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38957058

RESUMO

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 , Feminino
6.
Arq Bras Cardiol ; 121(7): e20230585, 2024 Jun.
Artigo em Português, Inglês | MEDLINE | ID: mdl-39082573

RESUMO

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-Operatório
7.
J Am Heart Assoc ; 13(14): e034833, 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-38958134

RESUMO

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 , Adolescente
8.
BMC Cardiovasc Disord ; 24(1): 322, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38918721

RESUMO

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 Risco
9.
J Am Heart Assoc ; 13(12): e034871, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38860401

RESUMO

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 Morte
11.
Adv Exp Med Biol ; 1441: 617-627, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884737

RESUMO

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/cirurgia
12.
Adv Exp Med Biol ; 1441: 645-659, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884739

RESUMO

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/genética
13.
Adv Exp Med Biol ; 1441: 629-644, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884738

RESUMO

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/genética
14.
Technol Health Care ; 32(S1): 457-464, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38759068

RESUMO

BACKGROUND: Congenital heart disease (CHD) seriously affects children's health and quality of life, and early detection of CHD can reduce its impact on children's health. Tetralogy of Fallot (TOF) and ventricular septal defect (VSD) are two types of CHD that have similarities in echocardiography. However, TOF has worse diagnosis and higher morality than VSD. Accurate differentiation between VSD and TOF is highly important for administrative property treatment and improving affected factors' diagnoses. OBJECTIVE: TOF and VSD were differentiated using convolutional neural network (CNN) models that classified fetal echocardiography images. METHODS: We collected 105 fetal echocardiography images of TOF and 96 images of VSD. Four CNN models, namely, VGG19, ResNet50, NTS-Net, and the weakly supervised data augmentation network (WSDAN), were used to differentiate the two congenital heart diseases. The performance of these four models was compared based on sensitivity, accuracy, specificity, and AUC. RESULTS: VGG19 and ResNet50 performed similarly, with AUCs of 0.799 and 0.802, respectively. A superior performance was observed with NTS-Net and WSDAN specific for fine-grained image categorization tasks, with AUCs of 0.823 and 0.873, respectively. WSDAN had the best performance among all models tested. CONCLUSIONS: WSDAN exhibited the best performance in differentiating between TOF and VSD and is worthy of further clinical popularization.


Assuntos
Aprendizado Profundo , Ecocardiografia , Comunicação Interventricular , Tetralogia de Fallot , Ultrassonografia Pré-Natal , Humanos , Tetralogia de Fallot/diagnóstico por imagem , Comunicação Interventricular/diagnóstico por imagem , Ecocardiografia/métodos , Feminino , Ultrassonografia Pré-Natal/métodos , Gravidez , Redes Neurais de Computação , Diagnóstico Diferencial
16.
Eur Heart J ; 45(23): 2079-2094, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38748258

RESUMO

BACKGROUND AND AIMS: Patients with repaired tetralogy of Fallot remain at risk of life-threatening ventricular tachycardia related to slow-conducting anatomical isthmuses (SCAIs). Preventive ablation of SCAI identified by invasive electroanatomical mapping is increasingly performed. This study aimed to non-invasively identify SCAI using 3D late gadolinium enhancement cardiac magnetic resonance (3D-LGE-CMR). METHODS: Consecutive tetralogy of Fallot patients who underwent right ventricular electroanatomical mapping (RV-EAM) and 3D-LGE-CMR were included. High signal intensity threshold for abnormal myocardium was determined based on direct comparison of bipolar voltages and signal intensity by co-registration of RV-EAM with 3D-LGE-CMR. The diagnostic performance of 3D-LGE-CMR to non-invasively identify SCAI was determined, validated in a second cohort, and compared with the discriminative ability of proposed risk scores. RESULTS: The derivation cohort consisted of 48 (34 ± 16 years) and the validation cohort of 53 patients (36 ± 18 years). In the derivation cohort, 78 of 107 anatomical isthmuses (AIs) identified by EAM were normal-conducting AI, 22 were SCAI, and 7 blocked AI. High signal intensity threshold was 42% of the maximal signal intensity. The sensitivity and specificity of 3D-LGE-CMR for identifying SCAI or blocked AI were 100% and 90%, respectively. In the validation cohort, 85 of 124 AIs were normal-conducting AI, 36 were SCAI, and 3 blocked AI. The sensitivity and specificity of 3D-LGE-CMR were 95% and 91%, respectively. All risk scores showed an at best modest performance to identify SCAI (area under the curve ≤ .68). CONCLUSIONS: 3D late gadolinium enhancement cardiac magnetic resonance can identify SCAI with excellent accuracy and may refine non-invasive risk stratification and patient selection for invasive EAM in tetralogy of Fallot.


Assuntos
Imageamento Tridimensional , Taquicardia Ventricular , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/cirurgia , Tetralogia de Fallot/diagnóstico por imagem , Masculino , Feminino , Adulto , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/diagnóstico por imagem , Adulto Jovem , Meios de Contraste , Pessoa de Meia-Idade
18.
J Craniofac Surg ; 35(5): e421-e423, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38709034

RESUMO

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.


Assuntos
Região Branquial , Microtia Congênita , Tetralogia de Fallot , Humanos , Masculino , Tetralogia de Fallot/cirurgia , Região Branquial/anormalidades , Região Branquial/cirurgia , Criança , Microtia Congênita/cirurgia , Fístula/cirurgia , Fístula/congênito , Doenças Faríngeas , Anormalidades Craniofaciais
19.
J Ultrasound Med ; 43(8): 1501-1507, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38700249

RESUMO

OBJECTIVE: To evaluate the vascular impedance of the pulmonary arteries in fetuses with tetralogy of Fallot (TOF) by Doppler echocardiography. METHODS: A total of 42 fetuses with TOF (TOF group) and 84 gestational age-matched normal fetuses (control group) were prospectively collected from the Second Xiangya Hospital of Central South University from August 2022 to January 2023. The severity of TOF was classified into mild TOF (z score ≥-2), moderate TOF (-4 < z score < -2), or severe TOF (z score ≤-4) according to the z score value of the pulmonary annulus diameter. The pulsatility index (PI) of the main pulmonary artery (MPA), distal left pulmonary artery (DLPA), and distal right pulmonary artery (DRPA) were measured by pulsed-wave Doppler. The differences in clinical data and echocardiographic parameters between TOF group, control group, and TOF subgroups were compared. RESULTS: Compared with the control group, MPA-PI increased significantly, whereas DLPA-PI and DRPA-PI decreased in TOF group (all P < .001). There were no significant differences in MPA-PI and DRPA-PI among mild TOF, moderate TOF, and severe TOF (all P > .05). However, DLPA-PI decreased significantly in severe TOF compared with mild TOF (P < .05). CONCLUSION: Fetuses with TOF presented increased vascular impedance in the pulmonary trunk and decreased impedance in distal pulmonary artery branches. Further large and follow-up studies are needed to demonstrate the associations between those changed vascular impedances and the development of PA in patients with TOF.


Assuntos
Artéria Pulmonar , Tetralogia de Fallot , Ultrassonografia Pré-Natal , Humanos , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/fisiopatologia , Tetralogia de Fallot/embriologia , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/embriologia , Artéria Pulmonar/fisiopatologia , Feminino , Ultrassonografia Pré-Natal/métodos , Gravidez , Estudos Prospectivos , Resistência Vascular/fisiologia , Adulto , Ecocardiografia Doppler/métodos
20.
BMC Med Educ ; 24(1): 571, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38789956

RESUMO

BACKGROUND: Case-based learning (CBL) methods have gained prominence in medical education, proving especially effective for preclinical training in undergraduate medical education. Tetralogy of Fallot (TOF) is a congenital heart disease characterized by four malformations, presenting a challenge in medical education due to the complexity of its anatomical pathology. Three-dimensional printing (3DP), generating physical replicas from data, offers a valuable tool for illustrating intricate anatomical structures and spatial relationships in the classroom. This study explores the integration of 3DP with CBL teaching for clinical medical undergraduates. METHODS: Sixty senior clinical medical undergraduates were randomly assigned to the CBL group and the CBL-3DP group. Computed tomography imaging data from a typical TOF case were exported, processed, and utilized to create four TOF models with a color 3D printer. The CBL group employed CBL teaching methods, while the CBL-3DP group combined CBL with 3D-printed models. Post-class exams and questionnaires assessed the teaching effectiveness of both groups. RESULTS: The CBL-3DP group exhibited improved performance in post-class examinations, particularly in pathological anatomy and TOF imaging data analysis (P < 0.05). Questionnaire responses from the CBL-3DP group indicated enhanced satisfaction with teaching mode, promotion of diagnostic skills, bolstering of self-assurance in managing TOF cases, and cultivation of critical thinking and clinical reasoning abilities (P < 0.05). These findings underscore the potential of 3D printed models to augment the effectiveness of CBL, aiding students in mastering instructional content and bolstering their interest and self-confidence in learning. CONCLUSION: The fusion of CBL with 3D printing models is feasible and effective in TOF instruction to clinical medical undergraduates, and worthy of popularization and application in medical education, especially for courses involving intricate anatomical components.


Assuntos
Educação de Graduação em Medicina , Impressão Tridimensional , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/cirurgia , Educação de Graduação em Medicina/métodos , Masculino , Estudantes de Medicina , Feminino , Aprendizagem Baseada em Problemas , Avaliação Educacional , Modelos Anatômicos , Adulto Jovem
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