Impacto de prótesis valvular pulmonar en la función ventricular derecha y eventos cardiacos en pacientes con tetralogía de Fallot: análisis retrospectivo / Impact of pulmonary valve replacement on ventricular function and cardiac events in patients with tetralogy of Fallot. A retrospective cohort study

Introducción y objetivos: Evaluar el impacto del recambio valvular pulmonar (RVP) en pacientes con tetralogía de Fallot reparada (TFr) en la evolución de los volúmenes y función b-ventricular, y en los eventos adversos.MétodosSe identificó adultos con TFr del registro SACHER. Se evaluó los datos seriados de cardiorresonancia magnética, ecocardiografía, capacidad de ejercicio y fracción aminoterminal del propéptido natriurético cerebral (tipo B) (NT-proBNP). El objetivo primario fue la fracción de eyección del ventrículo derecho (FEVD) medida por cardiorresonancia. Los objetivos secundarios fueron volúmenes biventriculares, capacidad de ejercicio, valores de NT-proBNP y tiempo hasta eventos adversos (arritmia auricular o ventricular, endocarditis). Se analizó las asociaciones entre el RVP previo y las trayectorias longitudinales de los resultados funcionales, y el tiempo hasta los eventos cardiacos adversos con modelos lineales de efectos mixtos y modelos de riesgos proporcionales de Cox, respectivamente.ResultadosSe analizó a 308 pacientes (153 con y 155 sin RVP) con 887 visitas de estudio. No se asoció el RVP de manera significativa con la trayectoria de la FEVD (CE=-1,33; IC95%, –5,87-3,21; p=0,566). Se asoció el RVP previo con menor volumen telediastólico del ventrículo derecho, pero no tuvo efecto significativo en la fracción de eyección del ventrículo izquierdo, capacidad de ejercicio o valores de NT-proBNP. Se asoció el RVP previo con un riesgo incrementado de arritmias auriculares (HR=2,09; IC95%, 1,17-3,72; p=0,012) y endocarditis infecciosa (HR=12,72; IC95%, 4,69-34,49; p<0,0001), pero no con un riesgo aumentado de arritmias ventriculares sostenidas (HR=0,64; IC95%, 0,18-2,27; p=0,490).ConclusionesNo se asoció el RVP previo de manera significativa con la trayectoria de la FEVD, pero sí con un riesgo aumentado de arritmias auriculares y endocarditis infecciosa. (AU)

Introduction and objectives: Our aim was to assess the impact of prosthetic pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) on changes in biventricular volumes and function and on adverse cardiac events.MethodsAdults with rTOF were identified from the SACHER-registry. Data from serial cardiac magnetic resonance imaging, echocardiography, exercise capacity and n-terminal pro b-type natriuretic peptide (NT-proBNP) were collected. The primary endpoint was right ventricular ejection fraction (RVEF) as measured by cardiac magnetic resonance. Secondary endpoints were biventricular volumes, left ventricular ejection fraction, exercise capacity and NT-proBNP levels, and time to adverse cardiac outcomes (atrial and ventricular arrhythmia, endocarditis). Associations between previous PVR and longitudinal changes in functional outcomes and time to adverse cardiac outcomes were analyzed using linear mixed-effects models and Cox proportional hazards models, respectively.ResultsA total of 308 patients (153 with and 155 without PVR) with 887 study visits were analyzed. Previous PVR was not significantly associated with changes in RVEF (CE, -1.33; 95%CI, -5.87 to 3.21; P=.566). Previous PVR was associated with lower right ventricular end-diastolic volume but had no significant effect on left ventricular ejection fraction, exercise capacity, or NT-proBNP-levels. Previous PVR was associated with an increased hazard of atrial arrhythmias (HR, 2.09; 95%CI, 1.17-3.72; P=.012) and infective endocarditis (HR, 12.72; 95%CI, 4.69-34.49; P<.0001) but not with an increased hazard of sustained ventricular arrhythmias (HR, 0.64; 95%CI, 0.18-2.27; P=.490).ConclusionsPrevious PVR was not significantly associated with changes in RVEF but was associated with an increased risk of atrial arrhythmias and infective endocarditis. (AU)

Manejo del tracto de salida del ventrículo derecho con implante percutáneo de válvula Melody en pacientes pediátricos: experiencia en un centro de alta complejidad en Colombia / Management of right ventricular outflow tract with percutaneous Melody valve implantation in pediatric patients: experience in a high complexity center in Colombia

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.

Management of right ventricular outflow tract with percutaneous Melody valve implantation in pediatric patients: experience in a high complexity center in Colombia.

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.

Impact of pulmonary valve replacement on ventricular function and cardiac events in patients with tetralogy of Fallot. A retrospective cohort study.

INTRODUCTION AND OBJECTIVES: Our aim was to assess the impact of prosthetic pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) on changes in biventricular volumes and function and on adverse cardiac events. METHODS: Adults with rTOF were identified from the SACHER-registry. Data from serial cardiac magnetic resonance imaging, echocardiography, exercise capacity and n-terminal pro b-type natriuretic peptide (NT-proBNP) were collected. The primary endpoint was right ventricular ejection fraction (RVEF) as measured by cardiac magnetic resonance. Secondary endpoints were biventricular volumes, left ventricular ejection fraction, exercise capacity and NT-proBNP levels, and time to adverse cardiac outcomes (atrial and ventricular arrhythmia, endocarditis). Associations between previous PVR and longitudinal changes in functional outcomes and time to adverse cardiac outcomes were analyzed using linear mixed-effects models and Cox proportional hazards models, respectively. RESULTS: A total of 308 patients (153 with and 155 without PVR) with 887 study visits were analyzed. Previous PVR was not significantly associated with changes in RVEF (CE, -1.33; 95%CI, -5.87 to 3.21; P=.566). Previous PVR was associated with lower right ventricular end-diastolic volume but had no significant effect on left ventricular ejection fraction, exercise capacity, or NT-proBNP-levels. Previous PVR was associated with an increased hazard of atrial arrhythmias (HR, 2.09; 95%CI, 1.17-3.72; P=.012) and infective endocarditis (HR, 12.72; 95%CI, 4.69-34.49; P<.0001) but not with an increased hazard of sustained ventricular arrhythmias (HR, 0.64; 95%CI, 0.18-2.27; P=.490). CONCLUSIONS: Previous PVR was not significantly associated with changes in RVEF but was associated with an increased risk of atrial arrhythmias and infective endocarditis.

Evaluación del tracto de salida del ventrículo derecho mediante resonancia magnética con flujo 4D en pacientes sometidos a recambio valvular pulmonar transcatéter / 4D flow magnetic resonance imaging to assess right ventricular outflow tract in patients undergoing transcatheter pulmonary valve replacement

Introducción y objetivos: La resonancia magnética (RM) con flujo 4D suele utilizarse para evaluar el ventrículo derecho y las arterias pulmonares antes del implante percutáneo de la válvula pulmonar (IPVP). Como el IPVP está limitado por el tamaño del tracto de salida del ventrículo derecho (TSVD), se necesita medirlo con precisión para planificar la intervención. El objetivo del presente estudio es comparar diferentes modalidades de RM con la medición invasiva del TSVD con balón.MétodosEstudio unicéntrico prospectivo de pacientes sometidos a IPVP por insuficiencia pulmonar aislada evaluada mediante RM con flujo 4D, precesión libre en estado estacionario/gradiente eco 3D (3D SSFP/GRE) y angiografía por RM con contraste. La medición con balón se consideró la referencia.ResultadosSe incluyó a 23 adultos (media de edad, 38,4±12,5 años). En 18 pacientes el IPVP fue exitoso. El diámetro medio del TSVD más pequeño fue de 25,4±4,3 mm medido con balón y 25,6±3,8 mm y 21,8±3,6 mm por RM con flujo 4D en sístole y diástole respectivamente. Comparados con los medidos con balón, los diámetros de TSVD se correlacionaron mejor cuando se estimaron mediante RM con flujo 4D sistólico (r=0,89; p<0,001) que mediante RM con flujo 4D diastólico (r=0,71; p<0,001), angiografía por R; 3D con contraste (r=0,73; p<0,001) o 3D SSFP/GRE (r=0,50; p=0,04), y no se correlacionaron de manera significativa cuando se realizaron en 2D en diástole o sístole. La diferencia media entre la RM con flujo 4D sistólico y la medición con balón fue de 0,2 mm (IC95%, –3,5 a 3,9 mm), en tanto que con las otras técnicas fue mayor.ConclusionesAdemás de la cuantificación de la insuficiencia de la válvula pulmonar, la RM con flujo 4D permite una estimación fiable de los diámetros del TSVD, sobre todo en sístole, lo que es fundamental antes de planificar el IPVP. (AU)

Introduction and objectives: Magnetic resonance imaging (MRI) including 4D flow is used before percutaneous pulmonary valve implantation (PPVI). As PPVI is limited by the size of the right ventricular outflow tract (RVOT), accurate sizing is needed to plan the intervention. The aim of this study was to compare different MRI modalities and invasive angiogram to balloon sizing of RVOT.MethodsSingle-centre prospective study of patients who underwent PPVI for isolated pulmonary regurgitation assessed by 4D flow MRI, 3D steady-state free precession/gradient echo (3D SSFP/GRE) and contrast magnetic resonance angiogram. Balloon sizing was considered as the reference.ResultsA total of 23 adults were included (mean age, 38.4±12.5 years). Eighteen patients underwent successful primary PPVI. The average of the narrowest RVOT diameter was 25.4±4.3mm by balloon sizing. Compared to balloon sizing, RVOT diameters were better correlated when estimated by systolic 4D flow MRI (r=0.89, P<0.001) than by diastolic 4D flow MRI (r=0.71, P<0.001), 3D contrast magnetic resonance angiography (r=0.73; P<.001) and 3D SSFP/GRE (r=0.50; P=.04) and not significantly correlated when estimated by 2D in diastole and systole. The mean difference between systolic 4D flow MRI and balloon sizing was 0.2mm (95%CI, –3.5 to 3.9 mm), whereas it was wider with other techniques.ConclusionsBeyond the quantification of pulmonary valve regurgitation, 4D flow allows accurate estimation of RVOT diameters, especially in systole, which is fundamental before planning PPVI. (AU)

4D flow magnetic resonance imaging to assess right ventricular outflow tract in patients undergoing transcatheter pulmonary valve replacement.

INTRODUCTION AND OBJECTIVES: Magnetic resonance imaging (MRI) including 4D flow is used before percutaneous pulmonary valve implantation (PPVI). As PPVI is limited by the size of the right ventricular outflow tract (RVOT), accurate sizing is needed to plan the intervention. The aim of this study was to compare different MRI modalities and invasive angiography to balloon sizing of RVOT. METHODS: Single-center prospective study of patients who underwent PPVI for isolated pulmonary regurgitation assessed by 4D flow MRI, 3D steady-state free precession/gradient echo (3D SSFP/GRE) and contrast magnetic resonance angiography. Balloon sizing was considered as the reference. RESULTS: A total of 23 adults were included (mean age, 38.4±12.5 years). Eighteen patients underwent successful primary PPVI. The average of the narrowest RVOT diameter was 25.4±4.3 mm by balloon sizing. Compared to balloon sizing, RVOT diameters were better correlated when estimated by systolic 4D flow MRI (r=0.89, P<.001) than by diastolic 4D flow MRI (r=0.71, P <.001), 3D contrast magnetic resonance angiography (r=0.73; P <.001) and 3D SSFP/GRE (r=0.50; P=.04) and was not significantly correlated when estimated by 2D in diastole and systole. The mean difference between systolic 4D flow MRI and balloon sizing was 0.2 mm (95%CI, -3.5 to 3.9 mm), whereas it was wider with other techniques. CONCLUSIONS: Beyond the quantification of pulmonary valve regurgitation, 4D flow allows accurate estimation of RVOT diameters, especially in systole, which is fundamental before planning PPVI.

Manejo estomatológico de mínima intervención en paciente pediátrico con tetralogía de Fallot: Reporte de caso / Gestão estomatológica com intervenção mínima em paciente pediátrico com tetralogia de Fallot: relatório de caso / Minimal intervention dentistry in a pediatric patient with tetralogy of Fallot: case report

La tetralogía de Fallot es la cardiopatía congénita cianótica más frecuente, su prevalencia es del 0,08% afectando aproximadamente a 1 de cada 8.500 nacidos vivos. El manejo de pacientes con cardiopatía congénita representa un desafío para el odontopediatra, ya que requiere conocimientos y habilidades específicas. La odontología de mínima intervención permite ofrecer a los pacientes un tratamiento gentil, mejorando el abordaje conductual ayudando a la adaptación del paciente al tratamiento dental. El objetivo de este reporte consiste describir el manejo estomatológico con odontología de mínima intervención en una paciente femenina de 5 años de edad con diagnóstico de tetralogía de Fallot. Conclusión: la odontología de mínima intervención fue eficaz para el tratamiento de paciente con cardiopatía congénita aportando herramientas significativas destinadas a mejorar la conducta, brindando tratamientos sencillos, rápidos y conservadores. Dando la posibilidad de este tipo de tratamientos en cualquier otro paciente con compromiso médico

A tetralogia de Fallot é a cardiopatia congênita cianótica mais comum, com uma prevalência de 0,08%, afetando aproximadamente 1 em 8.500 nascidos vivos. O tratamento de pacientes com cardiopatias congênitas representa um desafio para os dentistas pediátricos, pois requer conhecimentos e habilidades específicas. A odontologia de intervenção mínima permite oferecer aos pacientes um tratamento gentio, melhorando a abordagem comportamental e ajudando na adaptação do paciente ao tratamento odontológico. O objetivo deste relatório é descrever o tratamento estomatológico com intervenção odontológica mínima em um paciente de 5 anos diagnosticado com tetralogia de Fallot. Conclusão: A odontologia com intervenção mínima foi eficaz no tratamento de pacientes com doenças cardíacas congênitas, fornecendo ferramentas significativas destinadas a melhorar o comportamento, oferecendo tratamentos simples, rápidos e conservadores. Ela oferece a possibilidade deste tipo de tratamento em qualquer outro paciente com comprometimento médico

Tetralogy of Fallot is the most common cyanotic congenital heart disease, with a prevalence of 0,08%, affecting approximately 1 in every 8,500 live births. Treatment patients with congenital heart disease represents a challenge for pediatric dentists, it requires specific knowledge and skills. Minimal intervention dentistry allows offering patients a gentle treatment, improving the behavioral approach and helping the patient's adaptation to dental treatment. The aim of this report is to describe the management with minimal intervention dentistry in a 5-year-old female patient with a diagnosis of tetralogy of Fallot. Conclusion: Minimal intervention dentistry was effective in the treatment of patients with congenital heart disease, providing significant tools aimed at improving behavior, offering simple, fast and conservative treatments. It gives the possibility of this type of treatment in any other patient with medical compromise.

Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico.

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.

Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico / Frecuencia de la deleción del cromosoma 22q11.2 en recién nacidos con cardiopatías congénitas no sindrómicas del occidente de México

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.

Fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot / Factores asociados con accidente vascular cerebral isquémico en niños y adolescentes con tetralogía Fallot / Factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot

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.

Tetralogia de Fallot Associada a Artéria Subclávia Direita Aberrante. Implicações Clínicas / Tetralogy of Fallot Associated with Aberrant Right Subclavian Artery. Clinical Implications

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).

Tetralogia de Fallot em crianças e adolescentes do Nordeste brasileiro: um estudo descritivo / Tetralogía de Fallot en niños y adolescentes del nordeste de Brasil: un estudio descriptivo / Tetralogy of Fallot in children and adolescents in northeastern Brazil: A descriptive study

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.

Comparación de resultados inmediatos y a mediano plazo de la anastomosis de Blalock-Taussig versus la colocación de stent en tracto de salida de ventrículo derecho en neonatos sintomáticos con tetralogía de Fallot / Comparison of immediate and mid-term outcomes of Blalock-Taussig shunt versus right ventricular outflow tract stenting in symptomatic neonates with tetralogy of Fallot

RESUMEN Introducción: El manejo inicial de neonatos con tetralogía de Fallot (TF), con síntomas asociados a una anatomía desfavorable y un flujo vascular pulmonar significativamente reducido es controversial, y un desafío clínico. Objetivo: Describir la evolución clínica y comparar el crecimiento de ramas pulmonares en neonatos con TF sintomáticos ingresados al Departamento de Cardiología del Hospital de Niños de Córdoba, desde marzo de 2011 hasta marzo de 2021, que recibieron anastomosis de Blalock-Taussig modificada (aBTm) versus colocación de stent en tracto de salida de ventrículo derecho (sTSVD). Material y métodos: Estudio retrospectivo, observacional. Se identificaron 113 pacientes con TF; 20 de ellos (18%) fueron neonatos sintomáticos y requirieron paliación inicial. Las variables categóricas se expresan como porcentaje; las continuas como mediana y rango intercuartilo (RIC). Un valor de p <0,05 se consideró significativo. Resultados: De los 20 pacientes incluidos en el estudio, 11 (55%) constituyen el grupo aBTm y 9 (45%) el grupo sTSVD. En el grupo aBTm la rama pulmonar derecha (RPD) pre paliación tenía un score Z -3 (RIC 4,20), que aumentó a -1,6 (RIC 1,56) (p = 0,11) post intervención; y la rama pulmonar izquierda (RPI) un score Z -2,5 (RIC 4,8) que se incrementó a -1,80 (RIC 2,36) (p = 0,44). En el grupo sTSVD la RPD pre paliación tuvo un score Z -3,45 (RIC 3,83) que aumentó a - 2,5 (RIC 3,58) (p = 0,021) y la RPI un score Z -4,10 (RIC 2,51) que se incrementó a -2,00 (RIC 3,75) (p = 0,011). La saturación de O2 (SO2) pre intervención fue 75% (RIC 6), y aumentó a 87% (RIC 9) en el grupo aBTm (p = 0,005); e inicialmente fue 75% (RIC 16) y aumentó a 91% (RIC 13) en el grupo sTSVD (p = 0,008). La mediana de estadía hospitalaria post procedimiento fue 10 días (RIC 11) en el grupo aBTm, y 6 (RIC 2) en el grupo sTSVD (p= 0,095). Conclusiones: En neonatos con TF sintomáticos, ambas estrategias paliativas mejoran la condición clínica. En los que recibieron sTSVD, se objetivó un crecimiento mayor de las ramas pulmonares. Mayor número de casos y seguimiento más largo serán necesarios para confirmar estos hallazgos.

ABSTRACT Background: The initial management of neonate patients with tetralogy of Fallot (TOF) associated with an unfavorable anatomy and significantly reduced pulmonary vascular flow is controversial and continues to be a clinical challenge. Objective: The aim of this study was to describe the clinical evolution and to compare pulmonary artery branch development in symptomatic neonatal TOF patients who received a modified Blalock Taussig shunt (mBT) versus right ventricular outflow tract stent placement (RVOTs) at the Department of Cardiology, Hospital de Niños de Córdoba, between March 2011 and March 2021. Methods: A retrospective, observational study identified 113 patients with TOF, 20 of which (18%) were symptomatic neonates requqiring initial palliative intervention. Categorical variables are expressed as percentage and continuous variables as median and interquartile range (IQR). A p value <0.05 was considered significant. Results: Among the 20 patients included in the study, 11 (55%) formed the mBT group and 9 (45%) the RVOTs group. In the mBT group, pre-palliative procedure right pulmonary artery (RPA) Z score was -3 (IQR 4.20) and increased to -1.6 (IQR 1.56) (p = 0.11) and left pulmonary artery (LPA) Z score of -2.5 (IQR 4.8) increased to -1.80 (IQR 2.36) (p = 0.44). In the RVOTs group, RPA Z score prior to palliative intervention was -3.45 (IQR 3.83) and increased to -2.5 (IQR 3.58) (p = 0.021) and LPA Z score of -4.10 (IQR 2.51) to -2.00 (IQR 3.75) (p = 0.011). Pre-intervention peripheral O2 saturation of 75% (IQR 6) increased to 87% (IQR 9) in the mBT group (p= 0.005) and from initially 75% (IQR 16) to 91% (IQR 13) in the RVOTs group (p= 0.008). Mean hospital stay after the procedure was 10 days (IQR 11) in the mBT group and 6 days (IQR 2) in the RVOTs group (p= 0.095). Conclusions: In symptomatic neonates with TOF, both palliative strategies improved the clinical condition. In patients who received RVOTs, there was greater development of pulmonary artery branches. A larger number of cases and longer-term follow-up will be necessary to confirm these findings.

Dental care of hospitalized pediatric patient with tetralogy of Fallot: a case report / Atendimento odontológico hospitalar de paciente pediátrico com tetralogia de Fallot: relato de caso

ABSTRACT Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease and it has a high mortality rate. The aim of this article was to provide a clinical case, describing the dental treatment of an infant patient with tetralogy of Fallot done at a hospital. The patient was a 7-year-old male, lived in a rural area with no previous diagnosis of this cardiopathy when he was attended to by a multidisciplinary team at University Hospital Ana Bezerra, at Santa Cruz, Northern Rio Grande, Brazil. After his medical appointment, the patient received a visit from the dental resident in Mother-Infant Health in his hospital room. During the dental exam, multiple carious lesions were found and there was an urgent need to reduce the risk of dental infection before the patient underwent heart surgery. The treatment started with a preventive approach, including oral hygiene instruction and behavior management. The treatment was completed using the atraumatic restorative technique, and a root tip was extracted. Antibiotic prophylaxis was administered before the extraction to minimize the risk of infectious endocarditis. After the dental treatment, the multidisciplinary team referred the patient for surgery to address the tetralogy of Fallot. The integration between the multidisciplinary residency and the medical team was important to reduce the risks of infectious endocarditis during the dental treatment, aiming to provide integral care to this patient.

RESUMO A tetralogia de Fallot é a cardiopatia cianótica congênita mais prevalente, e apresenta alta mortalidade. O objetivo do presente artigo foi descrever um caso clínico de atendimento odontológico de paciente infantil com tetralogia de Fallot em ambiente hospitalar. O paciente de 7 anos de idade, sexo masculino, morador da zona rural, não possuía o diagnóstico da cardiopatia quando buscou o serviço e foi atendido pela equipe multidisciplinar do Hospital Universitário Ana Bezerra, em Santa Cruz, Rio Grande do Norte, Brasil. O paciente, após atendimento médico, recebeu no leito da enfermaria do hospital a visita do cirurgião-dentista residente na Residência Multiprofissional em Saúde Materno-Infantil. Após avaliação bucal, verificou-se múltiplas lesões de cárie, e necessidade de tratamento odontológico urgente para redução de risco do foco infeccioso, previamente ao procedimento cirúrgico da cardiopatia. O tratamento iniciou pela abordagem preventiva, com orientações de higiene oral e condicionamento psicológico, e em seguida foi feito tratamento restaurador, pela técnica restauradora atraumática e extração de um fragmento radicular. A profilaxia antibiótica foi realizada antes da extração, para minimizar o risco de endocardite bacteriana. Após o atendimento odontológico, o paciente foi encaminhado pela equipe multidisciplinar para a abordagem cirúrgica da tetralogia de Fallot. A integração da residência multiprofissional com a equipe médica foi importante para a redução de riscos de endocardite bacteriana durante os procedimentos odontológicos, visando uma atenção integral ao paciente.

Quality of life among adults with repaired tetralogy of fallot: A literature review.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. Survival into adulthood is currently expected following surgical repair, leading to a growing population of adults with repaired TOF. In this literature review, we aim to summarize the current state of knowledge on the quality of life of adults with repaired TOF. A search was conducted on PubMed and results were reviewed for articles published between January of 2010 and June of 2020. Search terms included "Tetralogy of Fallot", "repaired", "adults" and "quality of life". For the subjective health status evaluation, most published studies used Short-Form-36. Most studies agree that physical complex status is poorer for adult patients with repaired TOF than for controls. Mental complex status was also lower. Patients reported similar satisfaction with their lives and levels of social participation. Most patients had a college or university degree. Higher education, male gender and having a partner were positively associated with being employed. Studies found no difference in the proportion of patients that are married or living with a partner, compared to control groups. Patients operated for TOF have a lower reproduction rate compared with the background population. A consistent finding of these studies is abnormal physical parameters compared to psychosocial issues. The diverse needs of adults with repaired TOF require a multidisciplinary care, that takes into consideration all aspects that affect their quality of life. Despite abnormal physical functional status, it is reassuring that most adult patients with TOF lead independent and productive lives.

Intervenção Paliativa Endovascular no Lactente com Tetralogia de Fallot: Uma Série de Casos / Palliative Endovascular Intervention in Infants with Tetralogy of Fallot: A Case Series

Resumo Fundamento Tendo em vista os casos de lactentes sintomáticos com Tetralogia de Fallot (TF), baixo peso ao nascimento e anatomia complexa, o implante de stent na via de saída do ventrículo direito (VSVD) tem sido indicado alternativamente à cirurgia de Blalock-Taussig (BT). Objetivo Avaliar o implante endovascular de stent na VSVD como abordagem primária no lactente com TF e não candidato à cirurgia de BT, bem como relatar seus resultados a médio prazo e até a retirada do stent na cirurgia corretiva. Métodos Entre outubro de 2015 e abril de 2018, uma série de seis lactentes portadores de TF receberam stents para desobstrução da VSVD. Os parâmetros hemodinâmicos foram comparados em períodos pré e pós-implante. Resultados As medianas de idade e peso no momento do procedimento foram de 146,5 dias e 4,9 kg, respectivamente. O gradiente sistólico máximo diminuiu de 63,5 mmHg para 50,5 mmHg, enquanto o diâmetro dos ramos pulmonares direito e esquerdo aumentou de 3,5 mm para 4,9 mm e 4,3 mm, respectivamente. O índice de Nakata aumentou de 96,5 mm para 108,3 mm; assim como o peso, de 4,9 kg para 5,5 kg. A saturação de oxigênio aumentou de 83,5% para 93%. Houve um caso de migração do stent e dois óbitos, um deles devido à embolização do stent e o outro não teve relação com o procedimento. Conclusões O implante de stent na VSVD como procedimento paliativo na TF se mostra uma alternativa promissora para o tratamento de lactentes com má anatomia e baixo peso ao nascimento.

Abstract Background Endovascular stent placement in the right ventricular outflow tract (RVOT) has been an alternative to Blalock-Taussig (BT) surgery in the treatment of Tetralogy of Fallot (TOF) in symptomatic infants with low birth weight and complex anatomy. Objective To evaluate endovascular stent placement in the RVOT as a primary treatment for infants with TOF who are not candidates for BT surgery, and evaluate medium-term outcomes until the stent is removed during corrective surgery. Methods Six infants with TOF were treated with RVOT stenting from October 2015 to April 2018. Hemodynamic parameters were compared between the pre- and post-stenting periods. Results At the time of stenting, participants had a median age and weight of 146.5 days and 4.9 kg, respectively. Peak systolic gradient decreased from 63.5 mm Hg to 50.5 mm Hg, while the diameter of the left and right pulmonary arteries increased from 3.5 mm to 4.9 mm and 4.3 mm, respectively. The Nakata index increased from 96.5 mm to 108.3 mm; weight increased from 4.9 kg to 5.5 kg; and oxygen saturation, from 83.5% to 93%. There was one case of stent migration and two deaths, one caused by stent embolization and the other unrelated to study procedures. Conclusions RVOT stenting is a promising alternative for the palliative treatment of TOF in infants with low birth weight and complex anatomy.

Rabdomioma cardiaco en relación con tetralogía de Fallot y esclerosis tuberosa / Cardiac rhabdomyoma associated with tetralogy of Fallot and tuberous sclerosis

Resumen Los tumores cardiacos son inhabituales en la edad pediátrica; de ellos, el rabdomioma es el más prevalente. Su curso suele ser benigno. Los casos sintomáticos obedecen a su efecto mecánico obstructivo o a la presencia de arritmias. No es común su asociación con cardiopatías congénitas. Se presenta el caso de un lactante con rabdomiomas múltiples dentro del complejo de esclerosis tuberosa y portador de tetralogía de Fallot con estenosis infundibulovalvular grave, quien presentó crisis de hipoxia que requirió valvuloplastia pulmonar percutánea, la cual se complicó por arritmia supraventricular y tuvo un desenlace fatal.

Abstract Cardiac tumors are rare in pediatrics, and when they occur, rhabdomyomas are the most prevalent. They are generally benign; symptomatic cases are due to mechanical obstruction or arrhythmias. They are not commonly associated with congenital heart disease. We present the case of an infant with multiple rhabdomyomas as part of tuberous sclerosis complex, and tetralogy of Fallot with severe infundibular and valvular stenosis, who presented a hypoxic crisis requiring percutaneous pulmonary valvuloplasty which was complicated by supraventricular arrythmia and had a fatal outcome.

Anestesia para cirugía abdominal urgente en síndrome de Down y tetralogía Fallot no reparada / Anesthesia for urgent abdominal surgery in Down syndrome and unrepaired Fallot tetralogy / Anestesia para cirurgia abdominal urgente na síndrome de Down e tetralogia de Fallot não reparada

RESUMEN Introducción: la cirugía en pacientes con síndrome de Down y tetralogía de Fallot no reparada es infrecuente, pero en ocasiones el anestesiólogo debe prestar servicio a estos pacientes para cirugías de urgencia no cardiaca. Presentación de caso: paciente blanco, masculino, 36 años de edad, con antecedentes de síndrome de Down y tetralogía de Fallot no reparada, con dolor abdominal de tres días de evolución en epigastrio e irradiación a fosa ilíaca derecha, sin alivio al reposo ni a la administración de analgésicos; acompañado de náuseas, vómitos y síntomas catarrales. Discusión: fue valorado por cirugía y se diagnosticó abdomen agudo quirúrgico por posible apendicitis aguda y mediante anestesia general orotraqueal fue intervenido con resultados favorables. Conclusiones: la administración de anestesia general en la conducción anestesiológica del paciente con síndrome de Down y tetralogía de Fallot no reparada para cirugía abdominal urgente, permite resultados satisfactorios durante el proceder.

ABSTRACT Introduction: surgery in patients with Down syndrome and unrepaired tetralogy of Fallot is infrequent, but sometimes the anesthesiologist must provide services to these patients for non-cardiac emergency surgeries. Case presentation: white male patient, 36 years old, with a history of Down syndrome and unrepaired Fallot's tetralogy, with abdominal pain of three days of evolution in the epigastrium and irradiation to the right iliac fossa, without relief at rest or at rest. administration of analgesics; accompanied by nausea, vomiting and catarrhal symptoms. Discussion: it was evaluated by surgery and an acute surgical abdomen was diagnosed for possible acute appendicitis and under general or tracheal anesthesia it was operated with favorable results. Conclusions: the administration of general anesthesia in the anesthesiological conduction of the patient with Down syndrome and unrepaired tetralogy of Fallot for urgent abdominal surgery allows satisfactory results during the procedure.

RESUMO Introdução: a cirurgia em pacientes com síndrome de Down e tetralogia de Fallot não reparada é pouco frequente, mas às vezes o anestesiologista deve fornecer serviços a esses pacientes para cirurgias de emergência não cardíaca. Apresentação do caso: paciente branco do sexo masculino, 36 anos, com história de síndrome de Down e tetralogia de Fallot não corrigida, com dor abdominal de três dias de evolução em epigástrio e irradiação para fossa ilíaca direita, sem alívio em repouso ou na administração de analgésicos; acompanhada de náuseas, vômitos e sintomas catarrais. Discussão: foi avaliado cirurgicamente e diagnosticado abdome cirúrgico agudo para possível apendicite aguda e sob anestesia geral orotraqueal operado com resultados favoráveis. Conclusões: a administração de anestesia geral na condução anestesiológica do paciente com síndrome de Down e tetralogia de Fallot não reparada para cirurgia abdominal de urgência permite resultados satisfatórios durante o procedimento.