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 / 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 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.

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).

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.

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.

Divertículo de Meckel en asociación a onfalocele y tetralogía de Fallot: reporte de caso y revisión de la literatura / Meckel's diverticulum in association with omphalocele and tetralogy of Fallot: Case report and literature review

El onfalocele o exónfalos se definen como un defecto congénito de la pared abdominal, que consiste en la herniación de las vísceras abdominales a través del anillo umbilical. Esta entidad rara vez se asocia a la comunicación del divertículo de Meckel con el saco del onfalocele. Teniendo en cuenta la escasa prevalencia de dicha entidad, compartimos el reporte de caso de un paciente recién nacido, con diagnóstico de onfalocele menor, en quien se sospechaba ruptura del saco, sin embargo, de manera intraoperatoria se encontró que la aparente ruptura del saco, correspondía a la comunicación con un divertículo de Meckel. El caso además se asoció con hallazgos ecocardiográficos de tetralogía de Fallot

Omphalocele or exomphalos are defined as a congenital defect of the abdominal wall, which consists of the herniation of the abdominal viscera through the umbilical ring. This entity is rarely associated with the communication of Meckel's diverticulum with the omphalocele sac. Considering the low prevalence of this entity, we report the case of a newborn with a diagnosis of minor omphalocele, in whom rupture of the sac was suspected; however, intraoperatively it was found that the apparent rupture of the sac corresponded to a communication with a Meckel's diverticulum. The case was also associated with echocardiographic findings of tetralogy of Fallot

A combinação das alterações anatômicas cardíacas na tetralogia de Fallot / The combination of cardiac anatomical changes in Fallot Tetralogy

A tetralogia de Fallot é a cardiopatia congênita cianótica mais comum. Caracteriza-se por tétrade de malformações anatômicas que incluem estenose pulmonar, defeito do septo ventricular, hipertrofia do ventrículo direito e dextroposição da aorta (cavalgamento da aorta). O objetivo deste estudo foi analisar e descrever as alterações anatômicas cardíacas, tratamento e prognóstico de pacientes com a doença. É revisão narrativa de artigos indexados na base de dados PubMed, Google Acadêmico e LILACS utilizando os descritores "tetralogy of Fallot", "congenital heart disease", "cyanotic disease". Em conclusão, a tetralogia de Fallot é cardiopatia congênita comum e com prognóstico ruim caso não seja realizado diagnóstico e tratamento precoces. O seguimento médico contínuo e próximo ao paciente é importante para acompanhar a evolução e programar novas intervenções caso necessárias.

Tetralogy of Fallot is the most common cyanotic congenital heart disease. It is characterized by tetrads of anatomical malformations that include pulmonary stenosis, ventricular septal defect, right ventricular hypertrophy, and aortic dextroposition (aortic cavalcade). The objectives of this study were to analyze and describe cardiac anatomical changes, treatment and prognosis of patients with the disease. It was a narrative review of articles indexed in PubMed, Academic Google and LILACS databases using the descriptors "Tetralogy of Fallot", "congenital heart disease", "cyanotic disease". In conclusion, tetralogy of Fallot is a common congenital heart disease with poor prognosis if early diagnosis and treatment are not performed. Continuous medical follow-up and to be close to the patient are important to monitor the evolution and schedule new interventions if necessary.

Informe de caso y revisión bibliográfica: Tetralogía de Fallot / Case report and bibliographic review: Tetralogy of Fallot

La Tetralogía de Fallot es la enfermedad cardiaca congénita cianótica más común y requiere una corrección quirúrgica temprana; se presenta el caso de una paciente que a los seis meses es sometida a cirugía paliativa de derivación sistémico pulmonar con fistula Blalock Taussing modificada con in-jerto de Goretex, su cuadro no mejora con el paso de los años debiéndose realizar cirugía de corrección total. Al ingreso presenta disnea de medianos esfuerzos, astenia, cianosis peribucal y distal que ceden con el reposo; en tórax presencia de cicatriz infra axilar compatible con cirugía paliativa previa, corazón: R1 y R2 rítmicos, normo fonéticos, presencia de soplo holosistólico en foco pulmonar y soplo infraclavicular izquierdo de fístula sistémico pulmo-nar. En la radiografía de tórax se observa aumento de índice cardiotorácico e hilios vasculares, el ecocardiograma pre quirúrgico transtorácico reporta estenosis infundibular por hipertrofia severa del miocardio, gradiente máximo de 90 mm/Hg. La cirugía de corrección total de Tetralogía de Fallot luego de procedimientos paliativos previos, con control por ecocardiograma transesofágico transoperatorio mejora la calidad de vida del paciente.

Tetralogy of Fallot is the most common cyanotic congenital heart disease and requires early surgical correction, this is a case of a patient who at six months undergoes palliative pulmonary systemic bypass surgery with modified Bla-lock Taussing fistula with Goretex graft, his condition does not improve with the passing of the years and a total correction surgery must be performed.Upon admission, the patient presents: dyspnea of medium efforts, asthenia, peribucal and distal cyanosis that yield with rest; in thorax presence of infra axillary scar compatible with previous palliative surgery, heart: rhythmic R1 and R2, phonetic norm, presence of holosystolic murmur in pulmonary focus and left infraclavicular murmur of pulmonary systemic fistula.The chest radiograph shows an increase in cardiothoracic index and vascu-lar congenital and prominent hilum, transthoracic pre-surgical echocardio-graphy is performed where infundibular stenosis is observed due to severe myocardial hypertrophy, maximum gradient of 90 mm / Hg.Tetralogy of Total Fall correction surgery after previous palliative procedures, with transoperative transesophageal echocardiogram control, improves the patient's quality of life.

The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralogia de Fallot e 100 com comunicação interventricular) e 100 indivíduos livres de defeitos cardíacos congênitos foram recrutados, e uma análise quantitativa de PCR em tempo real foi utilizada para replicar a associação de duas variações de número de cópia de defeitos cardíacos congênitos, em uma população chinesa da etnia Han. RESULTADOS: Uma supressão em PRKAB2 e duplicação em PPM1K foram encontradas em dois pacientes com tetralogia de Fallot, respectivamente; todas essas regiões estavam duplicadas nos pacientes com comunicação interventricular e nos 100 indivíduos livres de defeitos cardíacos congênitos. CONCLUSÃO: Nós replicado a variações no número de cópias de genes candidatos de doença PRKAB2 e PPM1K com tetralogia de Fallot em uma população chinesa da etnia Han; em pacientes com comunicação interventricular, não foram encontradas mutações nesses dois genes. Estes resultados indicam que a mesma genética de população molecular existe nestes dois genes em diferentes etnias. Isso mostra que esses dois genes são possivelmente candidatos a genes específicos de tetralogia de Fallot.

Cardiopatías congénitas asociadas a la microdeleción 22q11. 2, en un hospital pediátrico / Congenital heart defects associated with a 22q11. 2 microdeletion at a pediatric hospital

Introducción: El síndrome de deleción 22q11.2, también llamado síndrome Velo-Cardio-Facial (VCFS/del22q11.2) o síndrome de DiGeorge, es una entidad causada por una anomalía cromosómica, deleción en la región q11.2 (brazo largo) del cromosoma 22. Se trata de una enfermedad multisistémica de expresión variable que afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con una expresión facial particular. La prevalencia estimada es de 1:2000/4000. Objetivos: Identificar y describir las cardiopatías congénitas más frecuentemente asociadas a pacientes con síndrome de microdeleción 22q11.2. Materiales y métodos: Estudio descriptivo, transversal y retrospectivo que analiza los pacientes con diagnóstico de microdeleción 22q11.2 atendidos en el Hospital Garrahan desde Octubre de 1998 hasta Febrero 2018. El criterio diagnóstico fueron signos clínicos compatibles y la presencia de la microdeleción 22q11.2 por técnica de FISH o MLPA. Resultados: Población: 321 pacientes, 151 Femeninos (47%) 170 Masculinos (53%). Rango etario: 0 a 197 meses (1 día a 16,4 años). Mediana de edad al diagnóstico clínico: 31 meses. El 74,4% (239/321) de los pacientes evaluados con microdeleción 22q11.2 tuvieron cardiopatías congénitas asociadas a facies peculiar. Las cardiopatías congénitas más frecuentemente asociadas fueron conotroncales. De los pacientes con cardiopatías congénitas el 68,6% requirió cirugía cardiovascular. Fallecieron 24 pacientes (10%) con cardiopatías congénitas asociadas y en el 93% la causa de muerte estuvo relacionada a la afección cardiológica. Conclusiones: Los pacientes con microdeleción 22q11.2 se asocian con un alto porcentaje de cardiopatías congénitas, la gran mayoría son complejas (conotroncales) y requieren resolución quirúrgica en los primeros años de vida. Es de vital importancia la evaluación multidisciplinaria de este grupo especial de pacientes con cardiopatía asociada a otras alteraciones extra cardíacas para el diagnóstico precoz y tratamiento oportuno (AU)

Introduction: 22q11.2 deletion syndrome, also called velocardiofacial syndrome (VCFS/del22q11.2) or DiGeorge syndrome, is a condition caused by chromosomal abnormality, a deletion in the q11.2 region (long arm) of chromosome 22. VCFS is a multisystem disease of variable expression that affects the cardiovascular, immune, and endocrine systems, the oral cavity, neurocognitive development, and is associated with specific facial features. The estimated prevalence is 1:2000/4000. Objectives: To identify and describe the most common congenital heart defects associated with 22q11.2 micro-deletion syndrome. Materials and methods: Descriptive, cross-sectional, and retrospective study analyzing patients diagnosed with a 22q11.2 microdeletion seen at Garrahan Hospital from October 1998 to February 2018. Diagnostic criteria were compatible clinical signs and the presence of a 22q11.2 microdeletion identified by FISH or MLPA. Results: Population: 321 patients, 151 female (47%) and 170 Male (53%). Age range: 0 to 197 months (1 day to 16.4 years). Median age at clinical diagnosis: 31 months. Overall, 74.4% (239/321) of patients with a 22q11.2 microdeletion had congenital heart defects associated with a peculiar facies. The most commonly associated congenital heart defects were conotruncal. Of the patients with congenital heart defects, 68.6% required cardiovascular surgery. Of the patients with congenital heart defects 24 patients died (10%) and in 93% the cause of death was related to the heart disease (p 0.002). Conclusions: A high percentage of patients with a 22q11.2 microdeletion have congenital heart defects, which are complex (conotruncal) in the majority, requiring surgical treatment in the first years of life. Multidisciplinary evaluation of this special group of patients with heart defects associated with other extracardiac disorders is essential for an early diagnosis and timely treatment (AU)

Implante de stent en tracto de salida de ventrículo derecho en tetrología de Fallot grave: alternativa a la anastomosis de Blalock-Taussig / Right Ventricular Outflow Tract Stenting in Severe Tetralogy of Fallot: an Option to the Blalock-Taussig Shunt

RESUMEN Introducción: El manejo inicial de pacientes con tetralogía de Fallot (TOF) asociado a una anatomía desfavorable y flujo vascular pulmonar significativamente reducido es controversial y continúa siendo un desafío clínico. Material y métodos: Estudio multicéntrico, retrospectivo, observacional. Se incluyeron pacientes consecutivos (neonatos y lactantes menores) con diagnóstico de TOF asistidos en cuatro centros diferentes de la ciudad de Córdoba, Argentina, que recibieron stent en tracto de salida de ventrículo derecho (TSVD) como abordaje inicial de su cardiopatía congénita. La indicación de intervención paliativa inicial fue consensuada en reunión del equipo cardiovascular en cada centro participante. Una anatomía compleja (ramas pulmonares con Z score ≤ -2,5), presentación en shock cardiogénico o en crisis de cianosis, bajo peso o comorbilidades significativas (enterocolitis necrotizante, prematurez, insuficiencia renal, convulsiones) inclinaron la decisión hacia un abordaje percutáneo inicial. Resultados: Entre agosto de 2017 hasta mayo de 2018, 6 pacientes con TOF sintomáticos recibieron stent en TSVD. La edad media fue 39,3 días (9-87), el peso medio fue 3,60 kg (2,2-5,4) y el 66% eran de sexo femenino. Los stents utilizados fueron coronarios o periféricos con un diámetro que varió entre 4,0 y 6,0 mm. La saturación periférica previa a la colocación del stent fue de 66,4% (42-77) incrementado a 90,6% (86-96) previo al alta (p < 0,001). No se registraron complicaciones durante la intervención. El tiempo de internación fue de 7 días (1-13) y el tiempo de seguimiento fue de 106,8 días (4-292). No hubo mortalidad a los 30 días. Conclusión: El implante de stent en TSVD en pacientes con TOF y anatomía desfavorable es una opción razonable en neonatos y lactantes menores como alternativa a la realización de una anastomosis de Blalock-Taussig modificada o corrección primaria inicial.

ABSTRACT Background: The initial management of patients with Tetralogy of Fallot (TOF) associated with unfavorable anatomy and significantly reduced pulmonary blood flow is controversial and still a clinical challenge. Methods: We conducted a multicenter, retrospective and observational study in consecutive neonates and young infants with diagnosis of TOF treated at four different centers of the city of Cordoba, Argentina, who underwent RVOT stenting as the first approach to alleviate their congenital heart defect. The indication of a primary palliative intervention was decided by the cardiovascular surgery team in each participating center. An initial percutaneous approach was considered under the following circumstances: complex anatomy (pulmonary branches with Z score ≤-2.5), cardiogenic shock, cyanotic spells, low weight or significant comorbidities (necrotizing enterocolitis, prematurity, kidney dysfunction or convulsions). Results: From August 2017 to May 2018, 6 patients with symptomatic TOF underwent RVOT stenting. Mean age was 39.3 days (9-87), mean weight was 3.60 kg (2.2-5.4) and 66% were girls. Coronary or peripheral stents were used with diameter between 4.0 mm and 6.0 mm. Systemic arterial oxygen saturation was 66.4% (42-77) before the procedure and increased to 90.6% (86-96) before discharge (p<0.001) There were no complications during the procedure. Patients were hospitalized for an average of 7 days (1-13) and mean follow-up was 106.8 days (4-292). There were no deaths at 30 days. Conclusions: Right ventricular outflow tract stenting in patients with TOF and unfavorable anatomy is a reasonable option for neonates and young infants as an alternative to the modified Blalock-Taussig shunt or initial primary corrective surgery.

Tetralogía de Fallot y ecocardiografía / Case report: echocardiography in Fallot tetralogy

Tetralogy of Fallot is the most frequent cyanotic congenital heart disease. This is a case report of a pediatric patient who underwent her surgery with the monitorization of tranesopageal echocardiography

La tetralogía de Fallot es la cardiopatía congénita cianosante más frecuente. Se presenta un caso clínico de un paciente pediátrico que se monitorizó con ecocardiografía transesofágica intraoperatoria y se muestran las imágenes y los cambios en el manejo debido a la monitorización ecocardiográfica.