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Resumo Fundamento A regurgitação valvar pulmonar é uma importante complicação de longo prazo em pacientes com tetralogia de Fallot (TF). Objetivo O presente estudo tem como objetivo investigar os efeitos do implante valvar pulmonar (IVP) na anatomia e função do ventrículo direito (VD) e na evolução em longo prazo da prótese implantada em posição pulmonar. Métodos Uma análise de coorte retrospectiva e unicêntrica foi realizada em 56 pacientes consecutivos com TF submetidos a IVP. O estudo incluiu pacientes de ambos os gêneros, com idade ≥ 12 anos e compreendeu avaliação de dados clínicos e cirúrgicos, ressonância magnética cardiovascular pré e pós-operatória e dados ecocardiográficos obtidos mais de 1 ano após IVP. Resultados Após o IVP, houve uma diminuição significativa do volume sistólico final do VD indexado pela área de superfície corpórea (ASC), de 89 mL/ASC para 69 mL/ASC (p < 0,001) e do volume diastólico final indexado do VD, de 157 mL/ASC para 116 mL/ASC (p < 0,001). Além disso, houve aumento da fração de ejeção corrigida do VD [ FEVDc = fluxo pulmonar ajustado (fluxo pulmonar anterógrado − fluxo regurgitante) / volume diastólico final do VD ] de 23% para 35% (p < 0,001) e da fração de ejeção do ventrículo esquerdo de 58% para 60% (p = 0,008). No entanto, foi observado um aumento progressivo no gradiente de pico da válvula pulmonar ao longo do tempo, com 25% dos pacientes apresentando um gradiente superior a 60 mmHg. Próteses menores (tamanhos 19 a 23) foram associadas a um risco 4,3 vezes maior de gradiente > 60 mmHg em comparação com próteses maiores (tamanhos 25 a 27; p = 0,029; intervalo de confiança: 1,18 a 17,8). Conclusão Conforme esperado, o IVP demonstrou melhorias nos volumes e na função do VD. O acompanhamento e a vigilância a longo prazo são cruciais para avaliar a durabilidade da prótese e detectar potenciais complicações. O dimensionamento adequado das próteses é essencial para melhorar a longevidade da prótese.

Abstract 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.

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This clinical vignette describes the first case of a woman in his 40s with a set of congenital anomalies given by tetralogy of Fallot associated with aortic origin of the left pulmonary artery and uncorrected right aortic arch. All of these entities have a poor probability of survival in adulthood.

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Background: The neutrophil-lymphocyte ratio (NLR) is an easily accessible and inexpensive biomarker that has been shown to predict morbidity and mortality in congenital cardiac surgery. However, its regulatory mechanism remains unclear. This study aims to compare and correlate the tumor necrosis factor alpha (TNF-α), interleukin (IL)-1ß, IL-6, and IL-10 messenger RNAs (mRNAs) with the NLR in patients with tetralogy of Fallot (ToF) and ventricular septal defect (VSD). Methods: A prospective translational study was conducted on 10 children with ToF and 10 with VSD, aged between 1 and 24 months. The NLR was calculated from the blood count taken 24 hours before surgery. The expression of these mRNAs was analyzed in the myocardial tissue of the right atrium prior to cardiopulmonary bypass. Results: Patients with ToF exhibited a higher NLR [ToF 0.46 (interquartile range; IQR) 0.90; VSD 0.28 (IQR 0.17); P=0.02], longer mechanical ventilation time [ToF 24 h (IQR 93); VSD 5.5 h (IQR 8); P<0.001], increased use of vasoactive drugs [ToF 2 days (IQR 1.75); VSD 0 (IQR 1); P=0.01], and longer ICU [ToF 5.5 (IQR 1); VSD 2 (IQR 0.75); P=0.02] and hospital length of stays [ToF 18 days (IQR 17.5); VSD 8.5 days (IQR 2.5); P<0.001]. A negative correlation was found between NLR and oxygen saturation (SaO2) (r=-0.44; P=0.002). In terms of mRNA expression, the ToF group showed a lower expression of IL-10 mRNA (P=0.03). A positive correlation was observed between IL-10-mRNA and SaO2 (r=0.40; P=0.07), and a negative correlation with NLR (r=-0.27; P=0.14). Conclusions: Patients with ToF demonstrated a higher preoperative NLR and lower IL-10 mRNA expression by what appears to be a pro-inflammatory phenotype of cyanotic patients.

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Resumen Antecedentes: Las cardiopatías congénitas plantean un desafío terapéutico, específicamente la estenosis de la válvula pulmonar. Esta ha sido tratada durante muchos años con procedimientos invasivos e inserción de bioprótesis, que con el tiempo se vuelven disfuncionales y pueden reestenosarse por acumulación de tejido fibroso y calcificación. Debido a las complicaciones generadas por la injuria quirúrgica, se han descrito medidas menos invasivas para el manejo de la estenosis residual e inicial por medios endovasculares en adultos y más recientemente en población pediátrica. Objetivo: El objetivo de este reporte es describir la misma en el manejo endovascular del tracto de salida del ventrículo derecho, como el inicio de un trabajo continuo para la mejoría de los resultados pediátricos en países en vía de desarrollo. Métodos: Se presentan siete casos pediátricos de manejo endovascular del tracto de salida derecho; tres de ellos sometidos a valvuloplastia quirúrgica con persistencia de la estenosis pulmonar, por lo cual se decidió inserción percutánea de una válvula pulmonar (IVPP) transcatéter con válvula Melody utilizando la técnica valve-in-valve, con lo que se consiguió una resolución del 100% de la estenosis y no se presentó ningún tipo de complicación asociada al procedimiento. Resultados: En cuatro pacientes se logró una implantación exitosa de la válvula por vía percutánea en diferentes cardiopatías congénitas, siendo uno de ellos en tracto nativo; además, destaca el caso de un paciente en quien se realizó fractura intencional de la válvula pulmonar, procedimiento innovador en el manejo endovascular pediátrico en Colombia. Conclusiones: En estos pacientes el procedimiento resultó ser poco invasivo, seguro y efectivo. La técnica IVPP podría ser considerada una opción viable en Colombia (y en otros países en desarrollo) para el manejo de implantes valvulares primarios fallidos o incluso en tractos nativos.

Abstract Background: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. Objective: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. Methods: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. Results: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. Conclusions: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts.

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BACKGROUND: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. OBJECTIVE: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. METHODS: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. RESULTS: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. CONCLUSIONS: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts.

ANTECEDENTES: Las cardiopatías congénitas plantean un desafío terapéutico, específicamente la estenosis de la válvula pulmonar. Esta ha sido tratada durante muchos años con procedimientos invasivos e inserción de bioprótesis, que con el tiempo se vuelven disfuncionales y pueden reestenosarse por acumulación de tejido fibroso y calcificación. Debido a las complicaciones generadas por la injuria quirúrgica, se han descrito medidas menos invasivas para el manejo de la estenosis residual e inicial por medios endovasculares en adultos y más recientemente en población pediátrica. OBJETIVO: El objetivo de este reporte es describir la misma en el manejo endovascular del tracto de salida del ventrículo derecho, como el inicio de un trabajo continuo para la mejoría de los resultados pediátricos en países en vía de desarrollo. MÉTODOS: Se presentan siete casos pediátricos de manejo endovascular del tracto de salida derecho; tres de ellos sometidos a valvuloplastia quirúrgica con persistencia de la estenosis pulmonar, por lo cual se decidió inserción percutánea de una válvula pulmonar (IVPP) transcatéter con válvula Melody utilizando la técnica valve-in-valve, con lo que se consiguió una resolución del 100% de la estenosis y no se presentó ningún tipo de complicación asociada al procedimiento. RESULTADOS: En cuatro pacientes se logró una implantación exitosa de la válvula por vía percutánea en diferentes cardiopatías congénitas, siendo uno de ellos en tracto nativo; además, destaca el caso de un paciente en quien se realizó fractura intencional de la válvula pulmonar, procedimiento innovador en el manejo endovascular pediátrico en Colombia. CONCLUSIONES: En estos pacientes el procedimiento resultó ser poco invasivo, seguro y efectivo. La técnica IVPP podría ser considerada una opción viable en Colombia (y en otros países en desarrollo) para el manejo de implantes valvulares primarios fallidos o incluso en tractos nativos.

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BACKGROUND: Tetralogy of Fallot (ToF) is a cyanotic congenital heart disease, composed of four malformations: persistent communication between the right and the left ventricle, pulmonary stenosis, overriding aorta, and right ventricle hypertrophy. The etiology of this disease is not entirely known as yet, but it has been proposed that the pathology has genetic components. During embryonic development, the fetus is exposed to a physiological hypoxia to facilitate the formation of blood vessels and blood cells through de novo processes. METHODS: After researching scientific databases on the implications of oxygen on the normal and abnormal development of organs, especially the heart, we were able to propose that oxygen deprivation may be the cause of the disease. RESULTS: During this period, the hypoxia-inducible factor is activated and triggers transcriptional responses that enable adaptation to the hypoxic environment through angiogenic activation. High levels of this protein can alter certain physiological pathways, such as those related to the vascular endothelial growth factor. Research has shown that prolonged oxygen deprivation during embryological development can lead to the occurrence of congenital heart diseases, such as ToF. CONCLUSIONS: Studies using animal models have demonstrated that the deficiency or disruption of a protein called "CITED2," which plays an important role in cardiac morphogenesis and its loss, results in the alteration of pluripotent, cardiac, and neural lineage differentiation, thereby disrupting the normal development of the heart and other tissues.

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INTRODUCTION: The increasing worldwide number of adults with congenital heart disease (CHD) demands greater attention from health professionals. The purpose of this report is to describe the clinical demographic profile, frequency, and invasive treatment status of adults with CHD in a public reference hospital in northeastern Brazil. METHODS: This is a retrospective cross-sectional study including 704 patients attended between August 2016 and August 2020. Data were collected from virtual database. RESULTS: Patients' age varied from 17 to 81 years (mean 32±14; median 27 years); 294 (41.8%) patients were male, and 410 (58,2%) were female; 230 (32,7%) had diagnosis from age 18 and up. Cardiac complexity categories were "simple defects" (134 [19%] patients), "moderate complexity" (503 [71.5%]), and "great complexity" (67 [9.5%]). Atrial septal defect (ASD) was diagnosed in 216 (30.7%) patients, ventricular septal defect (VSD) in 101 (14.3%), tetralogy of Fallot in 93 (13.2%), and other CHD in 294 (41.8%). New York Heart Association (NYHA) functional classes were I (401 [57%]), II (203 [28.8%]), III (76 [10.8%]), and IV (24 [3.4%]). Complications were arrhythmias (173 [24%]) and severe pulmonary hypertension (69 [9.8%]). Invasive treatments were corrective surgery (364 (51.6%]), reoperation (28 [4.0%]), palliation (11 [1.6%]), interventional catheterization (12 [1.7%]), surgery plus interventional catheterization (5 [0.7%]), and preoperation (91 [12.9%]). Treatment was not required in 102 (14,5%) patients, and 91 (12.9%) were inoperable. CONCLUSION: The leading diagnosis was ASD. Frequency of unrepaired patients was high, mainly ASD, due to late diagnosis, which favored complications and denotes a matter of great concern.

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CLINICAL DATA: Infant, 11-month-old, male, diagnosis of Tetralogy of Fallot with retrotracheoesophageal course of the brachiocephalic vein. Usual findings of Tetralogy of Fallot on physical examination. Technical description: Chest radiography showed slightly reduced pulmonary vascular markings and no cardiomegaly. Normal preoperative electrocardiogram with postoperative right bundle branch block. Usual findings of Tetralogy of Fallot on echocardiogram. Postoperative computed tomography angiography confirmed left brachiocephalic vein with anomalous retrotracheoesophageal course, configuring a U-shaped garland vein, in addition to postoperative findings of total correction of Tetralogy of Fallot. OPERATION: Complete surgical repair was performed with pulmonary valve commissurotomy and placement of bovine pericardial patch to solve right ventricular outflow tract obstruction, pulmonary trunk enlargement, and ventricular septal defect closure. COMMENTS: Systemic venous drainage may show variations in patients with Tetralogy of Fallot. These abnormalities are usually of little clinical relevance, as they are asymptomatic. We presented a rare case of retrotracheoesophageal course of an anomalous left brachiocephalic vein with intraoperative diagnosis, confirmed by imaging during postoperative follow-up, without compromising clinical management or surgical approach.

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ABSTRACT Introduction: The increasing worldwide number of adults with congenital heart disease (CHD) demands greater attention from health professionals. The purpose of this report is to describe the clinical demographic profile, frequency, and invasive treatment status of adults with CHD in a public reference hospital in northeastern Brazil. Methods: This is a retrospective cross-sectional study including 704 patients attended between August 2016 and August 2020. Data were collected from virtual database. Results: Patients' age varied from 17 to 81 years (mean 32±14; median 27 years); 294 (41.8%) patients were male, and 410 (58,2%) were female; 230 (32,7%) had diagnosis from age 18 and up. Cardiac complexity categories were "simple defects" (134 [19%] patients), "moderate complexity" (503 [71.5%]), and "great complexity" (67 [9.5%]). Atrial septal defect (ASD) was diagnosed in 216 (30.7%) patients, ventricular septal defect (VSD) in 101 (14.3%), tetralogy of Fallot in 93 (13.2%), and other CHD in 294 (41.8%). New York Heart Association (NYHA) functional classes were I (401 [57%]), II (203 [28.8%]), III (76 [10.8%]), and IV (24 [3.4%]). Complications were arrhythmias (173 [24%]) and severe pulmonary hypertension (69 [9.8%]). Invasive treatments were corrective surgery (364 (51.6%]), reoperation (28 [4.0%]), palliation (11 [1.6%]), interventional catheterization (12 [1.7%]), surgery plus interventional catheterization (5 [0.7%]), and preoperation (91 [12.9%]). Treatment was not required in 102 (14,5%) patients, and 91 (12.9%) were inoperable. Conclusion: The leading diagnosis was ASD. Frequency of unrepaired patients was high, mainly ASD, due to late diagnosis, which favored complications and denotes a matter of great concern.

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Abstract Background In tetralogy of Fallot, correction surgery is a priority choice, seeing that it is desirable to minimize pulmonary hypoflow and severe hypoxemia, which result in hypoxemic crises, with sudden worsening of cyanosis, tachypnea, and, in some cases, loss of consciousness, seizures, and even death. Objective To evaluate the predicting factors of surgical mortality in children and adolescents undergoing correction of tetralogy of Fallot. Methods Retrospective cross-sectional study carried out by consulting all surgical records of the Child and Adolescent Cardiology Service of the Brazilian National Institute of Cardiology, during the period from 2007 to 2010. Results with p values < 0.05 were considered significant. Results The study evaluated 93 medical records. In relation to the characteristics of the population at the time of surgery, the median age was 3.69 (2.13 to 5.79) years, and 58.06% (n = 54) were male. White was the most common skin color, accounting for 55.43% (n = 51) of cases. In relation to assessment of nutritional status, median weight was 13.25 (10.10 to 17.60) kg, and body mass index was 14.49 (13.44 to 16.28) kg/m2. Down syndrome was present in 11.83% (n = 11) of the patients. All patients underwent correction surgery (n = 93, 100%). Prior cyanotic crisis was found in 53.85% (n = 49) with p = 0.013; surgical procedure duration was 218.83 ± 60.63 minutes, with p = 0.003, and lactate was 1.88 ± 1.33 mg/dL during the immediate postoperative period, with p = 0.009. Regarding the outcome of surgical death, it was found in 15.05% (n = 14) of patients. Mean follow-up lasted 5.68 ± 3.76 years. Conclusions According to the factors analyzed, the duration of the surgical procedure, prior cyanotic crisis, and blood lactate level may be relevant to surgical mortality.

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ABSTRACT Clinical data: Infant, 11-month-old, male, diagnosis of Tetralogy of Fallot with retrotracheoesophageal course of the brachiocephalic vein. Usual findings of Tetralogy of Fallot on physical examination. Technical description: Chest radiography showed slightly reduced pulmonary vascular markings and no cardiomegaly. Normal preoperative electrocardiogram with postoperative right bundle branch block. Usual findings of Tetralogy of Fallot on echocardiogram. Postoperative computed tomography angiography confirmed left brachiocephalic vein with anomalous retrotracheoesophageal course, configuring a U-shaped garland vein, in addition to postoperative findings of total correction of Tetralogy of Fallot. Operation: Complete surgical repair was performed with pulmonary valve commissurotomy and placement of bovine pericardial patch to solve right ventricular outflow tract obstruction, pulmonary trunk enlargement, and ventricular septal defect closure. Comments: Systemic venous drainage may show variations in patients with Tetralogy of Fallot. These abnormalities are usually of little clinical relevance, as they are asymptomatic. We presented a rare case of retrotracheoesophageal course of an anomalous left brachiocephalic vein with intraoperative diagnosis, confirmed by imaging during postoperative follow-up, without compromising clinical management or surgical approach.

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BACKGROUND: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been performed in Mexico. METHODS: We conducted a prospective hospital-based study from January 2017 to March 2021 in the Genetics and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any non-syndromic major CHD confirmed by echocardiography were eligible to participate. A total of 98 NBs were included, 51 males and 47 females. Fluorescence in situ hybridization (FISH) analysis was conducted to search for deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte cultures. RESULTS: We found eight patients (8.2%) with CHD and the 22q11.2 deletion, all of them with conotruncal defects, particularly of the truncus arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia with ventricular septal defect (p = 0.031) subtypes. With de exception of one infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. CONCLUSIONS: Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.

INTRODUCCIÓN: Las cardiopatías congénitas (CC) son una de las manifestaciones más frecuentes del síndrome de deleción 22q11.2. A pesar de que existen relativamente pocos estudios dirigidos a detectar específicamente la deleción 22q11.2 en recién nacidos (RN) con CC, ninguno de ellos ha sido realizado en México. MÉTODOS: Se realizó un estudio prospectivo de base hospitalaria desde enero de 2017 hasta marzo de 2021 en los Servicios de Genética y Cardiología Pediátrica del Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, México). Todos los RN consecutivos identificados con cualquier tipo de CC mayor no sindrómica confirmada por ecocardiografía fueron elegibles para participar. Se incluyeron 98 recién nacidos, 51 de sexo masculino y 47 de sexo femenino. Mediante el análisis de hibridación fluorescente in situ (FISH, por sus siglas en inglés) se realizó la búsqueda de la deleción del cromosoma 22q11.2 en núcleos en interfase de cultivos de linfocitos estándar. RESULTADOS: Se encontraron ocho pacientes (8.2%) con CC y la deleción 22q11.2, todos ellos con defectos conotruncales, particularmente de los subtipos tronco arterioso (p = 0.013), tetralogía de Fallot (p = 0.024) y atresia pulmonar con comunicación interventricular (p = 0.031). Con excepción de un lactante con hipocalcemia y otro con hipocalcemia y aplasia tímica, el diagnóstico de deleción 22q11.2 no se sospechó clínicamente en los demás pacientes. CONCLUSIONES: Los resultados de este trabajo confirman la importancia de excluir la presencia de la deleción 22q11.2 en todos los RN con CC, particularmente del subtipo conotruncal, incluso en ausencia de otras manifestaciones.

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Abstract Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies aimed at specifically detecting 22q11.2 deletion in newborns (NB) with CHD, none of them has been performed in Mexico. Methods: We conducted a prospective hospital-based study from January 2017 to March 2021 in the Genetics and Pediatric Cardiology Services of the Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, Mexico). All consecutive NBs identified with any non-syndromic major CHD confirmed by echocardiography were eligible to participate. A total of 98 NBs were included, 51 males and 47 females. Fluorescence in situ hybridization (FISH) analysis was conducted to search for deletion of chromosome 22q11.2 in interphase nuclei of standard lymphocyte cultures. Results: We found eight patients (8.2%) with CHD and the 22q11.2 deletion, all of them with conotruncal defects, particularly of the truncus arteriosus (p = 0.013), tetralogy of Fallot (p = 0.024), and pulmonary atresia with ventricular septal defect (p = 0.031) subtypes. With de exception of one infant with hypocalcemia and another with hypocalcemia and thymic aplasia, the diagnosis of 22q11.2 deletion was not clinically suspected in the other patients. Conclusions: Our results confirm the importance of excluding the presence of the 22q11.2 deletion in every NB with CHDs, particularly of the conotruncal subtype, even in the absence of other manifestations.

Resumen Introducción: Las cardiopatías congénitas (CC) son una de las manifestaciones más frecuentes del síndrome de deleción 22q11.2. A pesar de que existen relativamente pocos estudios dirigidos a detectar específicamente la deleción 22q11.2 en recién nacidos (RN) con CC, ninguno de ellos ha sido realizado en México. Métodos: Se realizó un estudio prospectivo de base hospitalaria desde enero de 2017 hasta marzo de 2021 en los Servicios de Genética y Cardiología Pediátrica del Hospital Civil de Guadalajara Dr. Juan I. Menchaca (Guadalajara, México). Todos los RN consecutivos identificados con cualquier tipo de CC mayor no sindrómica confirmada por ecocardiografía fueron elegibles para participar. Se incluyeron 98 recién nacidos, 51 de sexo masculino y 47 de sexo femenino. Mediante el análisis de hibridación fluorescente in situ (FISH, por sus siglas en inglés) se realizó la búsqueda de la deleción del cromosoma 22q11.2 en núcleos en interfase de cultivos de linfocitos estándar. Resultados: Se encontraron ocho pacientes (8.2%) con CC y la deleción 22q11.2, todos ellos con defectos conotruncales, particularmente de los subtipos tronco arterioso (p = 0.013), tetralogía de Fallot (p = 0.024) y atresia pulmonar con comunicación interventricular (p = 0.031). Con excepción de un lactante con hipocalcemia y otro con hipocalcemia y aplasia tímica, el diagnóstico de deleción 22q11.2 no se sospechó clínicamente en los demás pacientes. Conclusiones: Los resultados de este trabajo confirman la importancia de excluir la presencia de la deleción 22q11.2 en todos los RN con CC, particularmente del subtipo conotruncal, incluso en ausencia de otras manifestaciones.

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Objetivo: verificar os fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot. Método: estudo transversal, realizado com análise dos prontuários eletrônicos de crianças e adolescentes com tetralogia de Fallot acompanhados em um ambulatório especializado em cardiologia pediátrica no nordeste brasileiro. Os dados foram processados no SPSS 21.0. Aplicou-se Teste Qui-quadrado e/ou Exato de Fisher para medidas de associação (p≤0,05). Resultados: dos 104 prontuários eletrônicos analisados, o acidente vascular cerebral isquêmico na análise bivariada foi associado com hipotireoidismo, trombofilia, policitemia, endocardite, parada cardiorrespiratória, insuficiência renal aguda e insuficiência cardíaca. No modelo final da análise multivariada, foram preditores de acidente vascular cerebral isquêmico a trombofilia (p=0,011), policitemia (p<0,001) e parada cardiorrespiratória (p=0,005). Conclusão: trombofilia, policitemia e a parada cardiorrespiratória foram associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot.

Objective: to verify the factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot. Method: a cross-sectional study, carried out with analysis of electronic medical records of children and adolescents with tetralogy of Fallot followed up in an outpatient clinic specialized in pediatric cardiology in northeastern Brazil. The data was processed in SPSS 21.0. Chi-square and/or Fisher's exact test were used for association measures (p≤0.05). Results: of the 104 electronic medical records analyzed, ischemic stroke in the bivariate analysis was associated with hypothyroidism, thrombophilia, polycythemia, endocarditis, cardiac arrest, acute renal failure and heart failure. In the final multivariate analysis model, thrombophilia (p=0.011), polycythemia (p<0.001) and cardiac arrest (p=0.005) were predictors of ischemic stroke. Conclusion: thrombophilia, polycythemia, and cardiac arrest were associated with ischemic stroke in children and adolescents with tetralogy of Fallot.

Objetivo: verificar los factores asociados al ictus isquémico en niños y adolescentes con tetralogía de Fallot. Método: estudio transversal, realizado con análisis de registros médicos electrónicos de niños y adolescentes con tetralogía de Fallot seguidos en una consulta externa especializada en cardiología pediátrica en el noreste de Brasil. Los datos se procesaron en SPSS 21.0. Para las medidas de asociación se utilizó la prueba de Chi-cuadrado y / o Exacta de Fisher (p≤0.05). Resultados: de las 104 historias clínicas electrónicas analizadas, el ictus isquémico en el análisis bivariado se asoció con hipotiroidismo, trombofilia, policitemia y las complicaciones fueron endocarditis, parada cardiorrespiratoria, insuficiencia renal aguda e insuficiencia cardíaca. En el modelo final del análisis multivariado, los predictores de ictus isquémico fueron trombofilia (p = 0,011), policitemia (p <0,001) y paro cardíaco (p = 0,005). Conclusión: la trombofilia, la policitemia y el paro cardiorrespiratorio se asociaron al ictus isquémico en niños y adolescentes con tetralogía de Fallot.

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Resumo Desde a primeira descrição da tetralogia de Fallot (ToF) em 1671 por Niels Stensen e em 1888 por Étienne-Louis Arthur Fallot, vários trabalhos relataram essa anomalia juntamente com suas variantes e anomalias cardiovasculares concomitantes. A artéria subclávia direita aberrante (ASDA) é a anomalia do arco aórtico mais comum. Diferentemente da artéria subclávia esquerda aberrante, a ocorrência de ASDA em pacientes com ToF só foi relatada casuisticamente. Apresentamos dois pacientes de ToF com ASDA. É importante notar que o conhecimento da coexistência das duas anomalias tem pontos muito práticos durante correções endovasculares ou cirúrgicas de defeitos cardíacos congênitos (inclusive ToF).

Abstract Since the first description of Tetralogy of Fallot (ToF) in 1671 by Niels Stensen and in 1888 by Étienne-Louis Arthur Fallot, numerous papers have reported on this anomaly, along with its variants and concomitant cardiovascular anomalies. Aberrant right subclavian artery (ARSA) is the most common anomaly of the aortic arch. Different from the left aberrant subclavian artery, occurrence of ARSA in ToF-patients has only casuistically been reported so far. The present study reports on two ToF-patients with ARSA. It is important to note that knowledge of the coexistence of both anomalies has highly practical points during surgical or endovascular corrections of congenital heart defects (including ToF).

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Objetivo: caracterizar o perfil demográfico e clínico de crianças e adolescentes com tetralogia de Fallot e suas complicações clínicas. Materiais e método: estudo exploratório, de caráter descritivo, quantitativo, de corte transversal, com base na iniciativa Strengthening the Reporting of Observational Studies in Epidemiology (Strobe), a partir da análise dos prontuários eletrônicos de crianças e adolescentes acompanhadas em um ambulatório de referência em cardiologia e cirurgia cardiovascular pediátrica no Nordeste do Brasil. Os dados foram coletados de 2017 a 2019. Foram avaliadas variáveis demográficas, clínicas e complicações ocorridas, e calculadas a mediana, intervalo interquartil, frequências absolutas e relativas. Resultados: das 670 crianças e adolescentes atendidos com cardiopatia congênita, 104 (15,5%) apresentam diagnóstico de tetralogia de Fallot; a maioria era do sexo masculino (59,6%) e com idade entre 10 e 19 anos (49%). Foram evidenciadas complicações como acidente vascular cerebral isquêmico (6,7%), endocardite (2,9%) e insuficiência cardíaca (1,9%). Conclusões: faz-se necessário que os serviços e os profissionais de saúde, em especial o enfermeiro, estejam preparados para identificar os sinais e sintomas da tetralogia de Fallot e reconheçam as possíveis complicações relacionadas a essa cardiopatia congênita a fim de promover um cuidado de saúde com qualidade.

Objetivo: caracterizar el perfil demográfico y clínico de niños y adolescentes con tetralogía de Fallot y sus complicaciones clínicas. Materiales y método: estudio exploratorio, descriptivo, cuantitativo, transversal, basado en la iniciativa Fortalecimiento del Reporte de Estudios Observacionales en Epidemiología (STROBE), que incorpora el análisis de las historias clínicas electrónicas de niños y adolescentes en seguimiento por consulta externa en cardiología y cirugía cardiovascular pediátrica en el nordeste de Brasil. Se recolectaron datos de 2017 a 2019, analizando variables demográficas, clínicas y complicaciones. Además, se realizó el cálculo de la mediana, el rango intercuartílico y las frecuencias absolutas y relativas. Resultados: de los 670 niños y adolescentes tratados con cardiopatía congénita, 104 (15,5%) fueron diagnosticados con tetralogía de Fallot, la mayoría eran de sexo masculino (59,6%) entre 10 y 19 años (49%). Se evidenciaron complicaciones como ictus isquémico (6,7%), endocarditis (2,9%) e insuficiencia cardíaca (1,9%). Conclusiones: es necesario que los servicios y los profesionales de la salud, especialmente en enfermería, estén preparados para identificar los signos y síntomas de la tetralogía de Fallot y así reconocer posibles complicaciones relacionadas con esta cardiopatía congénita, con el fin de promover una atención de la salud con calidad.

Objective: To characterize the demographic and clinical profile of children and adolescents with tetralogy of Fallot and their clinical complications. Materials and method: Exploratory, descriptive, quantitative, cross-sectional study, based on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) initiative. This study involved the analysis of electronic medical records of children and adolescents under follow-up at a reference outpatient clinic in cardiology and pediatric cardiovascular surgery in northeastern Brazil. Data were collected from 2017 to 2019. Demographic and clinical variables and complications were evaluated, and the median, interquartile range, absolute and relative frequencies were calculated. Results: Out of 670 children and adolescents treated with congenital heart disease, 104 (15.5%) were diagnosed with tetralogy of Fallot. Most of these were male (59.6%) aged between 10 and 19 (49%). Among the complications identified we can mention ischemic stroke (6.7%), endocarditis (2.9%), and heart failure (1.9%). Conclusions: It is necessary that health services and professionals, especially nurses, are prepared to identify the signs and symptoms of tetralogy of Fallot and recognize the possible complications related to this congenital heart disease in order to promote quality health care.

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Abstract Introduction: In developing countries like India, it is common for late presentation of Tetralogy of Fallot (TOF) patients to a hospital as compared to that of developed countries. The objective of this study is to analyze the surgical outcome of TOF patients with age > 15 years. Methods: This is a retrospective descriptive study of the surgical outcomes of 45 adult patients undergoing correction for TOF. Epidemiology, symptomology, and preoperative evaluation were performed. Results: Most of the patients were male (33 [73%]). The median age was 21 years. A total of 42 (93.33%) patients had subaortic ventricular septal defect (VSD), while three (6.6%) patients presented with doubly committed VSD. The most common type of right ventricular outflow tract (RVOT) obstruction was combined infundibular and valvular types, accounting for 34 cases (75.5%). Six patients had infundibular RVOT obstruction, while three patients (6.6%) had predominantly valvular pulmonary stenosis. We performed trans-right atrial repair in 33 patients. Right atrium-pulmonary artery approach was used in five patients (11.1%). The most common postoperative complication was right bundle branch block, seen in 14 patients, with a mortality rate of 2% in the early postoperative period. We achieved excellent early and midterm survival results and significant improvement in functions and disease-free quality of life. Conclusion: Intracardiac repair in adult TOF can be performed with low mortality, less residual RVOT obstruction, and need for revision of RVOT far less frequent by using the Jhajhria Infundibular Resection Adequacy Assessment technique (JIRAAT) to assess for adequacy of infundibular resection.

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Background: Tetralogy of Fallot is one of the most frequent cyanotic heart diseases in our country, occupying the second place reported by the national health program 2007- 2012 and its prevalence is around 11%. Patients undergoing correction for tetralogy of Fallot are considered patients with a prolonged ischemic time and a high risk of presenting low cardiac output syndrome. Objective: To compare levosimendan with milrinone to prevent low cardiac output syndrome in patients undergoing tetralogy of Fallot correction. Material and methods: Randomized controlled open, prospective, longitudinal and comparative clinical trial. The sample size consisted of 19 patients, with a 95% confidence level. Group 1: levosimendan 0.1 mcg/kg/min from anesthetic induction. Group 2: conventional management with milrinone 0.5 mcg/kg/min. Results: When comparing the final measurements, it can be observed that the mean arterial pressure of the intervention group (levosimendan) was statistically significant (p = 0.04), both in the intraoperative measurement and in the final measurement. When comparing uresis, we found that the intervention group had a greater amount of uresis (p = 0.03). Regarding lactate, both in the intraoperative measurement (p = 0.002) and in the final measurement (p = 0.02), a lower amount was found in the intervention group. Conclusions: The results in favor of the use of levosimendan were reported, demonstrating the prevention of low cardiac output syndrome.

Introducción: la tetralogía de Fallot es una de las cardiopatías cianóticas más frecuentes de nuestro país, pues ocupa el segundo lugar reportado por el Programa Nacional de Salud 2007-2012 y su prevalencia se sitúa aproximadamente en 11%. Los pacientes sometidos a corrección de tetralogía de Fallot se consideran pacientes con un tiempo de isquemia prolongado y con riesgo alto de presentar síndrome de bajo gasto cardiaco. Objetivo: comparar levosimendán con milrinona para prevenir el síndrome de bajo gasto cardiaco en pacientes operados de corrección de tetralogía de Fallot. Material y métodos: ensayo clínico aleatorizado, controlado, abierto, prospectivo, longitudinal y comparativo. El tamaño de la muestra se estimó en 19 pacientes, con un nivel de confianza del 95%. En el grupo 1 se empleó 0.1 mcg/kg/min de levosimendán desde la inducción anestésica; en el grupo 2 se usó el manejo convencional con milrinona de 0.5 mcg/kg/min. Resultados: al comparar las mediciones finales se pudo observar que la presión arterial media del grupo de intervención (levosimendán) fue estadísticamente significativa (p = 0.04), tanto en la medición transoperatoria como en la medición final. Al comparar la uresis encontramos que el grupo con intervención tuvo mayor cantidad de uresis (p = 0.03). En cuanto al lactato, tanto en la medición transoperatoria (p = 0.002) como en la medición final (p = 0.02) se encontró una menor cantidad en el grupo de intervención. Conclusiones: se reportaron los resultados a favor del uso del levosimendán, pues se demostró que previene el síndrome de bajo gasto cardiaco.

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OBJECTIVES: Given the anatomical variations of tetralogy of Fallot (TOF), different surgical techniques can be used to achieve correction. Transannular patches (TAPs) are the most commonly used technique; they are associated with right ventricular dysfunction, the incidence of which can be reduced through pulmonary valve preservation. METHODS: Between January 2010 and July 2019, we performed 274 surgical corrections of tetralogy of Fallot at Fundación Cardioinfantil; 63 patients (23%) underwent repair with a TAP in addition to a pulmonary neovalve (Group I), 66 patients (24.1%) received a TAP without a pulmonary valve (Group II) and 145 patients (52.9%) had a repair with valve preservation (Group III). We analysed patient's characteristics before, during and after surgery at a 30-day follow-up. RESULTS: We found that patients in Group III were older (P = 0.04). Group II had the lowest level of O2 saturation before surgery (82%, P = 0.001). Cardiopulmonary bypass and aortic cross-clamp times were longer in Group I (P < 0.001). Right ventricular dysfunction was less frequent in Group III (15.9%, P = 0.011). Severe residual pulmonary regurgitation was more common in Group II (21.9%, P = 0.001). CONCLUSIONS: Preservation of the pulmonary valve is an important factor for immediate postoperative management of tetralogy of Fallot. Patients who were repaired with a TAP with or without a pulmonary neovalve had a higher incidence of right ventricular dysfunction than those with pulmonary valve preservation.

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Introduction: Deletion syndromes are rare events in clinical practice. A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. Objective: Report the case of a child with a terminal segment deletion of 8,9 Mb on the short arm of chromosome 6 (in 6p25.3p24.3) Methods: This case report was approved by the Ethics and Research Committee of the institution. For its preparation, the exam data provided by the patient's family were added from prenatal to early childhood and the discussion with professionals related to the case. Results: B.A.G., a two-year-old female child, the only daughter of non-consanguineous par-ents, no family history of similar diseases. She was born by premature cesarean section (GA: 35 weeks), presenting Dandy-Walker malformation, Fallot tetralogy, head circumference in the 97th percentile, and syndromic facies, with hypertelorism, low implantation of the ears, and opacity of both lenses. Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. Until 2004, there were only 43 cases in the medical literature, excluding ring chromosome 6 anomalie31. Regarding the terminal deletions of the short arm, this case specifically - 6p24pter - was associated with developmental delay, brain malformations, abnormalities in the anterior chamber of the eye, hearing loss, and abnormalities in the ear, micrognathia, and heart diseases (AU)

Introdução: As síndromes de deleção são eventos raros na prática clínica. A deleção cromossômica ocorre quando segmentos de informação genética são perdidos em um ou mais cromossomos. A ausência de alguns genes implica em fenótipos variados, cuja explicação detalhada ainda não está totalmente elucidada. Objetivo: Relatar o caso de uma criança com deleção de segmento terminal de 8,9 Mb do braço curto do cromossomo 6 (em 6p25.3p24.3) Métodos: Esse relato de caso foi aprovado pelo Comitê de Ética e Pesquisa da Instituição. Para sua elaboração, foram adicionados os dados de exames fornecidos pela família do paciente desde o pré-natal até a primeira infância e a discussão com profissionais relacionados ao caso. Descrição do Caso: B.A.G., criança de dois anos, sexo femi-nino, filha única de pais não consanguíneos, sem antecedentes na família de doenças similares. Nasceu por cesárea prematura (IG 35 semanas), apresentando Síndrome de Dandy-Walker, tetralogia de Fallot, perímetro cefálico no percentil 97 e fácie sindrômica, com hipertelorismo, baixa implantação das orelhas e opacidades do cristalino bi-lateralmente. Conclusão: As deleções no cromossomo 6 são alterações genéticas de grande raridade. Até 2004, existiam apenas 43 casos na literatura médica, excluindo a anomalia do cromossomo 6 em anal 31. No que se refere às deleções terminais do braço curto, a do caso em questão - 6p24-pter - foram associadas o atraso no desenvol-vimento, malformações cerebrais, anormalidades na câmara anterior do olho, perda auditiva, anormalidades no ouvido, micrognatia e cardiopatias (AU)

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