Síndrome de Eisenmenger secundario a comunicación interatrial tipo ostium secundum en mujer adulta / Eisenmenger Syndrome Associated with an ostium secundum Atrial Septal Defect in an Adult Woman

El síndrome de Eisenmenger es la forma más severa de presentación de hipertensión arterial pulmonar secundaria a defectos cardíacos congénitos no reparados, aunque su prevalencia es baja, continúa siendo un reto para los sistemas de salud de los países en vías de desarrollo por su complejidad en el manejo. Presentación del caso. Paciente femenina sin antecedentes médicos conocidos quien consulta por disnea relacionada a los esfuerzos y policitemia. Intervención terapéutica. Se realiza ecocardiograma transesofágico que arroja la presencia de defecto interatrial tipo ostium secundum e hipertensión arterial pulmonar severa, con cortocircuito de derecha a izquierda, se inicia oxigenoterapia y terapia farmacológica. Evolución clínica. Paciente permaneció ingresada presentando notable mejora a la disnea, se le dio de alta con referencia a la clínica de cardiopatías congénitas del adulto en Hospital Nacional Rosales.

Eisenmenger syndrome is the most severe form of pulmonary arterial hypertension secondary to an unrepaired congenital heart disease. Despite the low prevalence, it remains a challenge for the public health service of developing countries due to the complexity of the treatment. Case presentation. A female patient without known medical history, who consults with dyspnea on exertion and polycythemia. Treatment. A transesophageal echocardiogram was performed, showing an ostium secundum atrial septal defect and severe pulmonary arterial hypertension with a right-left shunt. Supplemental oxygen was administrated and pharmacological treatment was started. Outcome. The patient presented remarkable clinical improvement to dyspnea, she was discharged with medical reference to the Adult Congenital Heart Disease clinic at Rosales National Hospital.

Patau and Edwards Syndromes in a University Hospital: beyond palliative care / Síndrome de Edwards e Patau em um hospital universitário: além do paliativo

ABSTRACT Objective: To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a quaternary care hospital complex, regarding surgical and non-surgical medical procedures, palliative care, and outcomes. Methods: Descriptive case series conducted from January/2014 to December/2018 through analysis of records of patients with positive karyotype for T13 or T18 who stayed in the ICU of a quaternary hospital. Descriptive statistics analysis was applied. Results: 33 records of eligible patients were identified: 27 with T18 (82%), and 6 T13 (18%); 64% female and 36% male. Eight were preterm infants with gestational age between 30-36 weeks (24%), and only 4 among the 33 infants had a birth weight >2500 g (12%). Four patients underwent heart surgery and one of them died. Intrahospital mortality was 83% for T13, and 59% for T18. The majority had other malformations and underwent other surgical procedures. Palliative care was offered to 54% of the patients. The median hospitalization time for T18 and T13 was 29 days (range: 2-304) and 25 days (13-58), respectively. Conclusions: Patients with T13 and T18 have high morbidity and mortality, and long hospital and ICU stays. Multicentric studies are needed to allow the analysis of important aspects for creating protocols that, seeking therapeutic proportionality, may bring better quality of life for patients and their families.

RESUMO Objetivo: Descrever a população de recém-nascidos com síndrome de Patau (T13) e Edwards (T18) portadores de cardiopatias congênitas, que permaneceram em Unidades de Terapia Intensiva (UTI) de um complexo hospitalar quaternário, com relação a conduta cirúrgica ou não, cuidados paliativos e seus desfechos. Métodos: Série de casos de pacientes internados entre janeiro de 2014 a dezembro de 2018, com análise dos prontuários de portadores de T13 ou T18 que permaneceram internados em UTI que recebem neonatos nesse hospital quaternário. Utilizou-se análise estatística descritiva. Resultados: Foram identificados 33 prontuários para análise — 27 T18 (81,8%) e seis T13 (18,2%); 64% do sexo feminino e 36% do sexo masculino. Oito foram prematuros, nascidos com 30 a 36 semanas (24,2%), e apenas quatro nasceram com mais de 2500 g (12,1%). Quatro pacientes foram submetidos a cirurgia cardíaca e um deles foi a óbito. A mortalidade intra-hospitalar foi de 83% para T13 e 59% para T18. A maioria apresentava outras malformações e foi submetida a outras cirurgias. Cuidados paliativos foram oferecidos a 54% dos pacientes. A mediana do tempo de hospitalização para T18 e T13 foi respectivamente de 29 dias (variação: 2-304) e 25 dias (13-58). Conclusões: Pacientes com T13 e T18 cursam com alta morbimortalidade e longa permanência hospitalar em UTI. São necessários estudos multicêntricos para melhor análise de aspectos importantes para a criação de protocolos que, buscando proporcionalidade terapêutica, tragam melhor qualidade de vida para os pacientes e suas famílias.

Prevalencia de defectos congénitos folato-sensibles en la provincia de Villa Clara / Prevalence of folate-sensitive birth defects in Villa Clara province

Introducción: Los defectos congénitos son un problema global que anualmente afecta a 7,9 millones de recién nacidos, los cuales constituyen la primera causa de muerte en los países desarrollados, y la segunda en países en vías de desarrollo, como es el caso de Cuba. Objetivos: Determinar la prevalencia de defectos congénitos folato-sensibles entre nacidos vivos, nacidos muertos e interrupciones electivas del embarazo. Métodos: Se realizó un estudio descriptivo y transversal en la provincia de Villa Clara donde se incluyeron todos los casos con defectos congénitos folato-sensibles diagnosticados entre 2013 y 2018. Resultados: Las cardiopatías congénitas conotruncales, el síndrome Down y los defectos del tubo neural fueron los fenotipos clínicos más prevalentes. La tasa de prevalencia ajustada fue de 5,79 por 1 000 nacimientos. Se constató una mayor tasa de prevalencia entre nacidos muertos y se interrumpió el 43,26 % de los embarazos con defectos diagnosticados prenatalmente. Las mayores tasas de prevalencia ajustada de cardiopatías y hendiduras labiopalatinas se identificaron en los municipios de Corralillo y Quemado de Güines, mientras que Placetas tuvo las mayores tasas de defectos del tubo neural y síndrome Down, y Manicaragua las de gastrosquisis. Conclusiones: La mayor frecuencia de defectos congénitos entre nacidos muertos puede estar en relación con la gran expresividad variable de los defectos estudiados, donde se incluyen fenotipos clínicos de gravedad. En los diferentes municipios con elevadas tasas de prevalencia de estos defectos están involucrados diferentes factores de riesgo ambientales que actúan sobre un genotipo que predispone a estos defectos congénitos.

Introduction: congenital defects are a global problem, annually affecting 7.9 million newborns. They constitute the leading cause of death in developed countries and the second one in developing countries like Cuba. Objective: to determine the prevalence of folate-sensitive birth defects among live births, stillbirths and elective pregnancy terminations. Methods: a descriptive and cross-sectional study was carried out in Villa Clara province, where all cases with folate-sensitive birth defects diagnosed between 2013 and 2018 were included. Results: conotruncal congenital heart diseases, Down syndrome and neural tube defects were the most prevalent clinical phenotypes. The adjusted prevalence rate was 5.79 per 1,000 births. A higher prevalence rate was found among stillbirths and 43.26% of pregnancies with prenatally diagnosed defects were terminated. The highest rates of adjusted prevalence of cleft lip and palate and heart diseases were identified in Corralillo and Quemado de Güines municipalities, while Placetas had the highest rates of neural tube defects and Down syndrome, as well as Manicaragua those of gastroschisis. Conclusions: the higher frequency of congenital defects among stillbirths may be related to a highly variable expressivity of the studied defects, where serious clinical phenotypes are included. Different environmental risk factors acting on a genotype that predisposes these congenital defects are involved in the different municipalities with high prevalence rates of these defects.

Cardiopatia congênita e percepções e sentimentos maternos / Congenital heart disease and maternal perceptions and feelings / Cardiopatías congénitas y percepciones y sentimientos maternos

Introdução: A Cardiopatia Congênita (CC) é uma doença crônica, caracterizada por anormalidades estruturais e funcionais no sistema cardiocirculatório, podendo ocorrer por fatores genéticos, mutações, alterações cromossômicas ou mesmo ter uma origem multifatorial. Estudos discutem sobre a possibilidade da CC criar um ambiente estressor para a criança e sua família, sobretudo para sua mãe, por ser o elemento da família que, geralmente, assume o acompanhamento e a execução dos cuidados com a criança. Objetivo: Identificar e descrever a percepção e sentimentos maternos acerca da doença do filho, suas dificuldades, o impacto da doença na qualidade de vida da família e suas angústias diante do futuro. Método: Pesquisa qualitativa, transversal, descritiva, com coleta de dados feita entre os meses de Dezembro de 2022 e Fevereiro de 2023, por meio de entrevistas semiestruturadas realizadas por ligação telefônica, gravada, com 13 mães de crianças com CC. O processo de análise foi orientado pela análise de conteúdo do tipo temática. Resultado: O estresse está presente na fala da maior parte das mães. Essas falas trazem à cena o fato de que este se condensa especialmente nos períodos iniciais do processo: descoberta da doença do filho, notícia da(s) cirurgia(s), responsabilidade pelos cuidados que se prolongam, isolamento materno. Conclusão: O medo da morte, do futuro e do desenvolvimento da criança são fantasmas que também circulam nas manifestações maternas e expressam a dificuldade em antecipar aos seus filhos uma subjetividade, condição de base para o desenvolvimento geral adequado. (AU)

Introduction: Congenital heart disease (CHD) is a chronic disease, characterized by structural and functional abnormalities in the cardiocirculatory system, which may occur due to genetic factors, mutations, chromosomal alterations, or even have a multifactorial origin. Studies discuss the possibility of CC creating a stressful environment for the child and his family, especially for his mother, as she is the family member who generally takes on the monitoring and execution of care for the child. Objective:To identify and describe maternal perceptions and feelings about their child's illness, their difficulties, the impact of the disease on the family's quality of life, and their anxieties about the future. Method:Qualitative, cross-sectional, descriptive research, with data collection carried out between December 2022 and February 2023, through semi-structured interviews conducted by telephone, recorded, with 13 mothers of children with CC. The analysis process was guided by thematic content analysis. Result:Stress is in the speech of most mothers. These statements bring to the fore the fact that stress is condensed especially in the early stages of the process: discovery of the child's illness, news of the surgery(s), responsibility for prolonged care, and maternal isolation. Conclusion: Fear of death, the future and the child's development are ghosts that also circulate in maternal manifestations and express the difficulty in anticipating their children, a basic condition for adequate general development. (AU)

Introducción: La cardiopatía congénita (CC) es una enfermedad crónica, caracterizada por anomalías estructurales y funcionales en el sistema cardiocirculatorio, que pueden deberse a factores genéticos, mutaciones, alteraciones cromosómicas o incluso tener un origen multifactorial. Los estudios discuten la posibilidad de que el CC genere un ambiente estresante para el niño y su familia, especialmente para su madre, ya que es ella la que generalmente asume el seguimiento y ejecución del cuidado del niño. Objetivo: Identificar y describir las percepciones y sentimientos maternos sobre la enfermedad del hijo, sus dificultades, el impacto de la enfermedad en la calidad de vida de la familia y sus angustias sobre el futuro. Método: Investigación cualitativa, transversal, descriptiva, con recolección de datos realizada entre diciembre de 2022 y febrero de 2023, a través de entrevistas semiestructuradas realizadas por teléfono, grabadas, con 13 madres de niños con CC. El proceso de análisis fue guiado por el análisis de contenido temático. Resultado: El estrés está presente en el habla de la mayoría de las madres. Estas declaraciones traen a la luz el hecho de que el estrés se condensa especialmente en las primeras etapas del proceso: descubrimiento de la enfermedad del niño, noticia de la(s) cirugía(s), responsabilidad por cuidados prolongados, aislamiento materno. Conclusión: El miedo a la muerte, al futuro y al desarrollo del niño son fantasmas que también circulan en las manifestaciones maternas y expresan la dificultad de anticiparse a sus hijos, condición básica para un adecuado desarrollo general. (AU).

Atención de enfermería en preescolar con atresia pulmonar en oxigenación con membrana extracorpórea: caso exitoso / Nursing Care in Kindergarten with Pulmonary Atresia in Extracorporeal Membrane Oxygenation: a Succesful Case / Cuidados de enfermagem em uma criança pré-escolar com atresia pulmonar em oxigenação por membrana extracorpórea: caso de sucesso

Introducción. La atresia pulmonar con comunicación interventricular es una cardiopatía compleja que enmarca grandes desafíos en su etapa pre y postquirúrgica; el uso del soporte vital extracorpóreo con membrana de oxigenación restablece la oxigenación y perfusión al organismo para permitir recuperación y complementar estudios. El objetivo de este caso clínico es determinar la atención de enfermería en la fase aguda post quirúrgica. Se expondrá usando el modelo teórico de Dorothea Orem: teorías de déficit de autocuidado y teoría de sistemas. Esta cardiopatía es la forma más severa de la tetralogía de Fallot. Tiene una incidencia del 2% entre todas las cardiopatías. Metodología. Es el caso de una preescolar con atresia pulmonar con comunicación interventricular, se describe los procesos realizados desde el diagnóstico, la intervención percutánea y reparo quirúrgico, así como el manejo de lesión residual en el marco del uso de diferentes tecnologías. Se resalta como elemento clave el uso del soporte con oxigenación con membrana extracorpórea usada como puente a decisión. Resultados. El plan de atención de enfermería en esta fase crítica logró los resultados planteados como la adecuada perfusión y oxigenación, recuperación de la función ventricular, estabilización hemodinámica para ser llevada al reparo de la lesión residual. Este novedoso soporte fue implementado dos veces durante la misma hospitalización y con resultados exitosos. Conclusiones. Caso de difícil manejo con terapias convencionales, pero con aplicación de una atención integral de enfermería; el uso de tecnología y de diversas especialidades permitió un egreso de la menor sin complicaciones. Palabras clave: Atresia Pulmonar; Oxigenación por membrana extracorpórea; Atención de Enfermería; Unidades de Cuidado Intensivo Pediátrico; Cardiopatías Congénitas.

Introduction. The pulmonary atresia with ventricular septal defect is a complex heart disseas that possess great challenges in pre and post-surgical stages; the use of vital support extracorporeal with membrane oxygenation restores oxygen and perfusion to the body to allow recovery and complement studies. The objetive of this case report is to determinate the nurse attention in the acute post quirulgical phase. It will be presented using Dorothea Orem's theoretical model: theories of self-care deficits and systems theory. This heart disease is the most severe form of tetralogy Fallot. It has an incidence of 2% among all heart diseases. Methodology. This is the case of a kindergarten with pulmonary atresia with ventricular septal defect, the processes carried out from diagnosis, percutaneous intervention and surgical repair are described, as well as the management of residual injury within the framework of the use of different technologies. The use of extracorporeal membrane oxygenation support used as a decision bridge is highlighted as a key element. Results. The nursing care plan in the critical phase achieved the results proposed as adequate perfusion and oxygenation, recovery of the ventricular function, hemodynamic stabilization to be carried out to repair the residual injury. This newfangled support was implemented twice during the same hospitalization with sucessful result. Conclusions. Case report with struggle managment with conventional therapies but with the application of comprehensive nursing care; the use of technology and the work of various specialities allowed the minor to be discharged without complications. Keywords: Pulmonary Atresia; Extracorporeal Membrane Oxygenation; Nursing Care; Intensive Care Units, Pediatric; Heart Defects, Congenital.

Introdução. A atresia pulmonar com comunicação interventricular é uma cardiopatia complexa que apresenta grandes desafios em sua fase pré e pós-cirúrgica. O uso de suporte de vida extracorpóreo com membrana de oxigenação restaura a oxigenação e a perfusão do corpo para permitir a recuperação e complementar os estudos. O objetivo deste caso clínico é determinar os cuidados de enfermagem na fase aguda pós-cirúrgica. Será apresentado utilizando o modelo teórico de Dorothea Orem: teorias do déficit de autocuidado e teoria de sistemas. Esta doença cardíaca é a forma mais grave de tetralogia de Fallot. Tem uma incidência de 2% entre todas as doenças cardíacas. Metodologia. É o caso de uma criança em idade pré-escolar com atresia pulmonar com comunicação interventricular, são descritos os processos realizados desde o diagnóstico, intervenção percutânea e reparação cirúrgica, bem como o manejo da lesão residual no âmbito da utilização de diferentes tecnologias. Destaca-se, como elemento-chave, a utilização de suporte com oxigenação por membrana extracorpórea como ponte para a decisão. Resultados. O plano de cuidados de enfermagem nesta fase crítica alcançou os resultados propostos como perfusão e oxigenação adequadas, recuperação da função ventricular, estabilização hemodinâmica a ser realizada para o reparo da lesão residual. Este novo suporte foi implementado duas vezes durante a mesma hospitalização e com resultados bem-sucedidos. Conclusões. Caso de difícil manejo com terapias convencionais, mas com aplicação de cuidados integrais de enfermagem, o uso da tecnologia e de diversas especialidades permitiu que a criança recebesse alta sem complicações. Palavras-chave: Atresia Pulmonar; Oxigenação por Membrana Extracorpórea; Cuidados de Enfermagem; Unidades de Terapia Intensiva Pediátrica; Cardiopatias Congênitas.

Atividades de Vida Diária, Atividade Física, Aptidão Física e Qualidade de Vida em Crianças com Cardiopatia Congênita: Um Estudo de Caso-Controle / Activities of Daily Living, Physical Activity, Physical Fitness and Quality of Life in Children with Congenital Heart Disease: A Case-Control Study

Resumo Fundamento Apesar dos relatos de redução da aptidão física em crianças com cardiopatia congênita (CC), não foram realizadas avaliações específicas de desempenho para atividades de vida diária. Objetivos O objetivo foi comparar as atividades de vida diária, qualidade de vida, postura, aptidão física e níveis de atividade física entre crianças com CC e controles saudáveis (CS). Métodos O estudo incluiu 30 crianças, de 6 a 14 anos, com diagnóstico de CC moderada ou grave e 30 consideradas CS pareadas por idade e sexo. Os dados sociodemográficos e clínicos dos participantes foram registrados. Todos os participantes realizaram diversos testes: teste de TGlittre-P para atividades de vida diária; teste de caminhada de 6 minutos (TC6M) para capacidade funcional; bateria de testes Fitnessgram para aptidão física; dinamômetro de mão para medir a força de preensão; pedômetro para medir a atividade física; além disso, a criança e os pais completaram o Pediatric Quality of Life Inventory (PedsQL) para avaliação da qualidade de vida, além de análises posturais. Valores de p < 0,05 foram considerados estatisticamente significativos. Resultados Indivíduos com CC apresentaram um tempo de conclusão do teste TGlittre-P mais longo e uma distância de TC6M mais curta em comparação com o CS (TGlittre-P: CC 3,45 [3,24-4,02] min vs. CS 3,10 [2,57-3,23] min, TC6M: CC 514,00 [412,50-566,00] m vs. CS 591,50 [533,00-631,00] m). Para o grupo CC, os resultados dos testes de sit-ups, flexões, elevação do tronco e sentar e alcançar, dentro da bateria do Fitnessgram, além de força de preensão, postura e qualidade de vida foram menores do que os do grupo CS. Os níveis de atividade física foram semelhantes entre os grupos. Conclusões O desempenho das atividades de vida diária, a capacidade funcional, a aptidão física, a postura e a qualidade de vida de crianças com CC moderada e grave foram afetados em comparação com seus pares saudáveis.

Abstract Background Despite reports of reduced physical fitness in children with congenital heart disease (CHD), no specific performance evaluations for activities of daily living have been conducted. Objectives The aim was to compare the activities of daily living, quality of life, posture, physical fitness and physical activity levels of children with CHD with healthy controls (HC). Methods The study included 30 children aged 6-14 diagnosed with moderate or severe CHD and 30 age-sex-matched HC. The sociodemographic and clinical data of the participants were recorded. All participants went through several tests, namely the TGlittre-P test for activities of daily living, the 6-minute walk test (6MWT) for functional capacity, the Fitnessgram test battery for physical fitness, the hand dynamometer for measuring grip strength, the pedometer for measuring physical activity, and both the child and parents reported the Pediatric Quality of Life Inventory (PedsQL) for evaluating the quality of life, in addition to posture analyses. Values of p < 0.05 were considered statistically significant. Results Individuals with CHD had a longer TGlittre-P test completion time and a shorter 6MWT distance than HC (TGlittre-P: CHD 3.45 [3.24-4.02]min vs. HC 3.10 [2.57-3.23]min, 6MWT: CHD 514.00 [412.50-566.00]m vs. HC 591.50 [533.00-631.00]m). For the CHD group, sit-ups, push-ups, trunk lift, and sit-and-reach test scores within the Fitnessgram battery, grip strength, posture, and quality of life scores were lower than those for the HC group. Physical activity levels were similar in the groups. Conclusions The performance of activities of daily living, functional capacity, physical fitness, posture, and quality of life of children with moderate and severe CHD were affected compared to healthy peers.

A Systematic Review of Benefits and Risks of Fetal Surgery for Congenital Cardiac Defects Such as Pulmonary Valve Stenosis and Critical Aortic Stenosis

ABSTRACT Introduction: Congenital heart diseases (CHDs) constitute the most prevalent congenital pathology, and they are a consequence of structural and functional abnormalities during fetal development. The etiology of CHD involves the interaction of genetic and environmental factors. Fetal cardiac surgery aims at preventing natural pathways of CHD in utero, mitigating progression to more complex abnormalities. The goal of this review was to demonstrate the benefits and risks of fetal interventions in the two most prevalent CHDs, pulmonary stenosis and pulmonary atresia with an intact ventricular septum, but also critical aortic stenosis and hypoplastic left heart syndrome. Methods: Original and relevant articles were selected by meta-aggregation to perform a qualitative analysis of fetal cardiac interventions for pulmonary stenosis and critical aortic stenosis. The Joanna Briggs Institute's Qualitative Assessment and Review Instrument (or JBI-QARI) was used for data quality appraisal. Results: Of 61 potential articles, 13 were selected, and nine were finally included. Discussion: The present review demonstrated that fetal cardiac surgery increases right ventricular growth and hemodynamic flow in pulmonary stenosis, whereas in critical aortic stenosis it enables growth of the left ventricle and increases left ventricular pressure. However, it has a high complication rate, along with considerable morbidity and mortality. Conclusion: The benefits of fetal cardiac surgery for pulmonary stenosis and critical aortic stenosis are well-described in the literature; however, there is a significant risk of complications which can be reduced by the surgeon's technical expertise and well-structured hospital facilities.

Pulse oximetry test for screening congenital heart diseases: a systematic review / Prueba de oximetría de pulso para el screening de cardiopatías congénitas: revisión sistemática / Teste de oximetria de pulso para triagem de cardiopatias congênitas: revisão sistemática

ABSTRACT Objective: To determine the accuracy of the Pulse Oximetry Test (POT) in screening for Congenital Heart Diseases (CHD) in newborns in the first 48 hours of life. Method: Systematic review of diagnostic test accuracy with meta-analysis. The selection of studies was carried out in June 2021. Studies were selected with newborns, in a hospital or home environment, without a previous diagnosis of CHD, regardless of gestational age at birth, who underwent POT within the first 48 hours after birth. Registration on the PROSPERO platform - CRD42021256286. Results: Twenty-nine studies were included, totaling a population of 388,491 newborns. POT demonstrated sensitivity of 47% (95% CI: 43% to 50%) and specificity of 98% (95% CI: 98% to 98%). Subgroup analyses were carried out according to the different testing period, inclusion of retests in protocols and population of premature newborns. Conclusion: POT is a test with moderate sensitivity and high specificity. It is more effective when carried out within 24h - 48h of birth; in protocols that present retests, within two hours after the first measurement. It does not show satisfactory effectiveness for premature newborns.

RESUMEN Objetivo: Determinar la precisión de la Prueba de Oximetría de Pulso (POT) en el screening de Cardiopatías Congénitas (CC) en recién nacidos en las primeras 48 horas de vida. Método: Revisión sistemática de la precisión de las pruebas diagnósticas con metanálisis. La selección de estudios se realizó en junio de 2021. Se seleccionaron estudios con recién nacidos, en ambiente hospitalario o domiciliario, sin diagnóstico previo de CC, independientemente de la edad gestacional al nacer, a quienes se les realizó POT dentro de las primeras 48 horas después del nacimiento. Registro en la plataforma PROSPERO - CRD42021256286. Resultados: Se incluyeron 29 estudios, totalizando una población de 388.491 recién nacidos. POT demostró una sensibilidad del 47% (IC del 95%: 43% al 50%) y una especificidad del 98% (IC del 95%: 98% al 98%). Se realizaron análisis de subgrupos según los diferentes períodos de prueba, la inclusión de repruebas en los protocolos y la población de recién nacidos prematuros. Conclusión: POT es una prueba con sensibilidad moderada y especificidad alta. Es más eficaz cuando se realiza entre las 24 y 48 horas siguientes al nacimiento; en protocolos que presenten repruebas, dentro de las dos horas posteriores a la primera medición. No muestra una eficacia satisfactoria para los recién nacidos prematuros

RESUMO Objetivo: Determinar a acurácia do Teste de Oximetria de Pulso (TOP) na triagem de Cardiopatias Congênitas (CC) em recém-nascidos nas primeiras 48 horas de vida. Método: Revisão sistemática de acurácia de teste diagnóstico com metanálise. A seleção dos estudos foi realizada em junho de 2021. Foram selecionados estudos com recém-nascidos, em ambiente hospitalar ou domiciliar, sem o diagnóstico prévio de CC, independentemente da idade gestacional ao nascimento, que realizaram o TOP entre as primeiras 48h após o nascimento. Registro na plataforma PROSPERO - CRD42021256286. Resultados: Foram incluídos 29 estudos, somando uma população total de 388.491 recém-nascidos. O TOP demonstrou sensibilidade de 47% (IC 95%: 43% a 50%) e especificidade de 98% (IC 95%: 98% a 98%). Foram realizadas análises dos subgrupos conforme período de realização do teste diferente, inclusão de retestes nos protocolos e população de recém-nascidos prematuros. Conclusão: O TOP é um teste de moderada sensibilidade e alta especificidade. Apresenta maior efetividade quando realizado no intervalo entre 24h - 48h do nascimento; em protocolos que apresentem retestes, em até duas horas após a primeira medida. Não apresenta efetividade satisfatória para recém-nascidos prematuros.

Research progress of radiation protection in interventional diagnosis and treatment of pediatric heart disease / 中国基层医药

Interventional diagnosis and treatment of heart disease is the gold standard to evaluate the anatomy and physiology of children with congenital heart disease. It plays an important role in the treatment of congenital heart disease. However, ionizing radiation is inevitably harmful to the health of children and surgery operators to varying degrees. More and more attention has been paid by surgery operators to children's unique characteristics, protective awareness and skills. This paper reviews recent literature regarding the application, radiation hazards, and research status of interventional surgery in children with congenital heart disease, which hope to help people to better understand the importance of ionizing radiation protection.

Genetic etiology of fetal conotruncal defects and significance of copy number variation sequencing and whole exome sequencing: analysis of 196 cases / 中华围产医学杂志

Objective:To investigate the genetic etiology of fetal conotruncal heart defects (CTDs) and to evaluate the performance of copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in identifying the genetic etiology.Methods:This retrospective study involved 196 fetuses diagnosed with CTDs by fetal echocardiography in Beijing Anzhen Hospital, Capital Medical University from June 2017 to December 2021. CNV-seq was performed to screen for chromosomal abnormalities [aneuploidy and copy number variations (CNVs)] in the fetuses and their parents, and then WES was performed if CNV-seq was negative. The diagnostic yields of genetic abnormalities [aneuploidy+CNVs+single nucleotide variations (SNVs)] for different types of CTDs were compared using Chi-square test. Results:CNV-seq revealed 54 cases (27.6%, 54/196) with chromosomal abnormalities, including 14 (7.1%, 14/196) aneuploidies, 39 (19.9%, 39/196) CNVs and one aneuploidy complicated by CNVs. Together with another 13 fetuses with pathogenic or likely pathogenic SNVs detected by WES among the rest 142 cases whose CNV-seq results were negative, the total detection rate of genetic abnormalities was 34.2% (67/196). WES increased the diagnostic yield for CTDs by 9.2% (13/142). There was significant difference in the diagnostic yields for different types of CTDs ( χ2=20.31, P=0.002). The diagnostic yield was relatively high for interrupted aortic arch of type B, absent of the pulmonary valve -type of tetralogy of Fallot (9/10 and 8/12), but low for transposition of the great arteries (12.5%, 5/40). Conclusions:CNVs are the common genetic abnormalities in fetal CTDs, and SNVs are also detected in some cases. It is recommended that all fetuses with CTDs should undergo genetic testing. CNV-seq should be used in combination with WES if possible to improve the identification of genetic etiology and provide reference for genetic counseling.

Nonsense variation of OTUD5 gene in a fetus with X-linked multiple congenital anomalies- neurodevelopmental syndrome / 中华围产医学杂志

We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Prenatal echocardiographic features and outcomes of congenital ventricular outpouching in ten fetuses / 中华围产医学杂志

Objective:To summarize the echocardiographic features and outcomes in fetuses with congenital ventricular outpouching (CVO).Methods:This retrospective study enrolled ten fetuses diagnosed with CVO by fetal echocardiography in the Affiliated Hospital of Qingdao University and Qingdao Women and Children's Hospital from January 2015 to April 2022. Clinical data were analyzed, including echocardiographic features, other intracardiac and extracardiac malformations, karyotypes, and pregnancy outcomes. Data were analyzed by descriptive statistics.Results:All ten cases were single, including eight ventricular diverticula and two ventricular aneurysms. Five cases had the anomaly in the left ventricular and the other five in the right. Five cases were isolated malformations, and the other five were complicated by other intra- or extracardiac malformations. A pathogenic copy number variation was detected in one case. Three pregnancies were terminated, and one was lost to follow-up. The other six fetuses were born alive and showed no obvious clinical symptoms or abnormalities in growth and development during 3-70 months of follow-up. The right ventricular diverticulum spontaneously disappeared in one case. One case with the right ventricular aneurysm was also diagnosed with noncompaction of the left ventricular myocardium by echocardiography at six months.Conclusions:Fetal CVO presents with typical echocardiographic features and can be diagnosed prenatally. Regular follow-up during pregnancy is recommended to observe the sizes of outpouchings and the occurrence of complications in fetuses with CVO after excluding other structural and chromosomal abnormalities to avoid unnecessary termination. Attention should also be paid to postnatal follow-up.

Based on Delphi method improved early graded rehabilitation nursing model for postoperative children with congenital heart disease / 中国实用护理杂志

Objective:To improve the early graded rehabilitation nursing model suitable for postoperative children with congenital heart disease, providing reference for related research and clinical practice.Methods:Searched databases like JBI, PubMed, Medline, CINAHL, CNKI, Wanfang Data and related websites for information on postoperative rehabilitation of children with congenital heart disease. We improved the first draft model with qualitative interview results and used Delphi method to conduct two rounds of consultation for 16 experts from 6 provinces and cities to further test the scientific and feasibility of the model.Results:The early graded rehabilitation nursing model for postoperative children with congenital heart disease includes 4 first-level items, 15 second-level items and 48 third-level items. The 4 first-level items are the evaluation of the early graded rehabilitation nursing model, the grading standard of the early graded rehabilitation nursing model, the implementation of the early graded rehabilitation nursing model, the effect evaluation and health education. Experts′ response rates were 100% in the 2 rounds, experts′ authority coefficient were 0.82 and 0.84 respectively, and the Kendall′ s W rank-order correlation coefficients of all levels of indicators were 0.188-0.246, 0.223-0.287 (all P<0.01). Conclusions:The improved early graded rehabilitation nursing model for postoperative children with congenital heart disease is scientific, pertinence and safe, which can provide guidance for clinical rehabilitation nursing practice.

Sobrecarga de Cuidadores Primários de Crianças com Cardiopatia Congênita / Burden of primary caregivers of children with congenital heart disease / Sobrecarga de los Cuidadores Primarios de niños con cardiopatías congénitas

Objetivo: identificar o nível de sobrecarga nos cuidadores primários de crianças com cardiopatia congênita. Método: estudo transversal descritivo de abordagem quantitativa. A coleta de dados foi realizada em ambiente virtual nos meses de junho de 2021 até fevereiro de 2022, após aprovação pelo Comitê de Ética em Pesquisa. Utilizou-se um formulário para caracterização da amostra e a escala Zarit Burden. Os dados foram analisados através do programa SPSS versão 24 utilizando a estatística descritiva e análise de variância de p≤0,05. Protocolo de pesquisa aprovado pelo Comitê de Ética em Pesquisa. Resultados: participaram 100 mães com média de idade entre 34,08 anos, a maioria casada (57%), residentes do estado de São Paulo (25%), com ensino médio completo (51%) Observou-se que 56,0% evidenciaram sobrecarga moderada. Conclusão: a sobrecarga é uma realidade em cuidadores primários de crianças com cardiopatias congênitas e o compartilhamento de cuidado e apoio familiar são identificados como fatores de proteção.

Objective: to identify the burden level on primary caregivers of children with congenital heart disease. Method: descriptive cross-sectional study with a quantitative approach. Data collection was carried out in a virtual environment from June 2021 to February 2022, after approval by the Research Ethics Committee. A form was used to characterize the sample and the Zarit Burden scale. Data were analyzed using the SPSS version 24 program using descriptive statistics and analysis of variance of p≤0.05. Research protocol approved by the Research Ethics Committee. Results: 100 mothers participated with a mean age of 34.08 years, most of them married (57%), residents of the state of São Paulo (25%), with complete secondary education (51%) It was observed that 56.0% showed moderate overload. Conclusion: burden is a reality in primary caregivers of children with congenital heart disease and sharing care and family support are identified as protective factors.

Objetivo: identificar el nivel de sobrecarga de los cuidadores principales de niños con cardiopatías congénitas. Método: estudio descriptivo transversal con enfoque cuantitativo. La recolección de datos se realizó en ambiente virtual de junio de 2021 a febrero de 2022, previa aprobación del Comité de Ética en Investigación. Se utilizó un formulario para caracterizar la muestra y la escala de Zarit. Los datos se analizaron con el programa SPSS versión 24 mediante estadística descriptiva y análisis de desviación de p≤0,05. El Comité de Ética en Investigación aprobó el Protocolo de investigación. Resultados: Participaron 100 madres con media de edad de 34,08 años, la mayoría casadas (57%), residentes en el estado de São Paulo (25%), con educación secundaria completa (51%). Se observó que el 56,0% mostró moderada sobrecarga. Conclusión: la sobrecarga es una realidad en los cuidadores primarios de niños con cardiopatías congénitas; el cuidado compartido y el apoyo familiar se identifican como factores de protección.

Retrospective Evaluation of Platelet-Leukocyte Indices and Cardiac Surgical Outcomes in Acyanotic Heart Disease Patients with Pulmonary Hypertension (REPLICA-PH)

Abstract Introduction: Acyanotic congenital heart disease (ACHD) patients with pulmonary hypertension (PH) are prone to postoperative complications, and characterization of the risk profile continues to fail in identifying inflammatory predilection. Our objective is to investigate the role of platelet-leukocyte indices (neutrophil-lymphocyte ratio [NLR], platelet-lymphocyte ratio [PLR], and systemic immune-inflammation index [SII] [neutrophil × platelet/lymphocyte]) in predicting poor outcomes following cardiac surgery in ACHD cohort with preoperative PH. Methods: This single-center, retrospective risk-predictive study included ACHD patients undergoing surgical correction at our tertiary cardiac center between January 2015 and December 2019. Standard institutional perioperative management protocol was followed, and poor postoperative outcome was defined as ≥ 1 of: low cardiac output syndrome, new-onset renal failure, prolonged mechanical ventilation (MV > 24 hours), stroke, sepsis, and/or death. Results: One hundred eighty patients out of 1,040 (17.3%) presented poor outcome. On univariate analysis, preoperative factors including right ventricular systolic pressure (RVSP) (PH-severity marker), congestive heart failure, albumin, NLR, PLR, SII, and aortic cross-clamping (ACC) and cardiopulmonary bypass (CPB) times predicted poor outcome. However, on multivariate analysis, RVSP, NLR, SII, and ACC and CPB times emerged as independent predictors. An NLR, SII prognostic cutoff of 3.33 and 860.6×103/mm3 was derived (sensitivity: 77.8%, 78.9%; specificity: 91.7%, 82.2%; area under the curve: 0.871, 0.833). NLR and SII values significantly correlated with postoperative MV duration, mean vasoactive-inotropic scores, and length of intensive care unit and hospital stay (P<0.001). Conclusion: Novel parsimonious, reproducible plateletleukocyte indices present the potential of stratifying the risk in congenital cardiac surgical patients with pre-existing PH.

Cardiovascular Risk Factors in Children and Adolescents with Fontan Circulation

Abstract Background: Long-term outcomes of patients with Fontan circulation are uncertain regarding the prevalence and role of risk factors (RFs) such as increased body mass index (BMI), arterial hypertension, and hypercholesterolemia. Objectives: To describe the prevalence of RFs in patients with univentricular heart, with variable follow-up times. Methods: This mixed cohort study was performed with 66 patients, who underwent blood count, fasting blood glucose, C-reactive protein (CRP), and lipid profile tests; systolic/diastolic blood pressure (SBP/DBP) measurements; and anthropometric and sociodemographic data collection. Cardiovascular RFs among first-degree relatives and physical activity habits were also assessed. Prevalence was described using proportions, with a 95% confidence interval. Continuous variables (height, weight, age, SBP, DBP) were described as means and standard deviations (m±SD). Associations between RFs were assessed using chi-squared or Fisher's exact tests. Spearman's correlation was used for analyzing CRP and the presence of 2 or more RFs. The Shapiro-Wilk test was used to check for data normality. Statistical significance considered p<0.05. Results: In our population, 19.7% were overweight, mean SBP was 89.44±37.4, and mean DBP was 60.0±26.08. The most prevalent diseases in the interviewees' families were systemic arterial hypertension (30.3%), obesity (16.7%), and 2 or more cardiovascular RFs among first-degree relatives (13.8%). We observed a trend towards significance between the presence of 2 familial RFs and overweight, as well as a risk profile for cardiovascular disease. There was an association between the BMI percentile, the presence of 2 or more RFs (p<0.05), and CRP (p<0.01). Conclusions: Overweight is common in patients with univentricular heart, being related to more than 2 cardiovascular RFs among first-degree relatives; physical inactivity and changes in lipid profiles are also frequent.

Fechamento percutâneo do canal arterial em pacientes prematuros abaixo de 2 Kg: experiência inicial Brasileira / Percutaneous closure of ductus arteriosus in preterm babies: the initial Brazilian experience

FUNDAMENTO: A incidência de ductus arteriosus patente (PCA) pode chegar a 50% em pacientes prematuros. Quando hemodinamicamente significativo, pode ser responsável por tempo de ventilação mecânica prolongado, além de importante fator de risco para o aparecimento de enterocolite necrotizante, hemorragia intraventricular e displasia broncopulmonar nessa população. OBJETIVO: O objetivo deste estudo é descrever a experiência inicial do fechamento percutâneo de canal arterial em prematuros pesando menos de 2 kg. MÉTODOS: Trata-se de estudo prospectivo que compreendeu 14 pacientes consecutivos submetidos a fechamento percutâneo de canal arterial de março de 2020 a fevereiro de 2021 em 6 instituições no Brasil. RESULTADOS: A idade gestacional média ao nascimento foi de 28,45 ±3,14 semanas, a idade média no momento do procedimento foi de 38,85 ±17,35 dias e o peso médio de 1,41±0,41 kg. Dentre os prematuros, 79% necessitavam de ventilação mecânica e 79% tinham feito uso de, em média, 1,5 ciclos de anti-inflamatórios não esteroides. A maioria dos pacientes teve melhora dos parâmetros ventilatórios e o tempo médio de extubação foi de 12,6 ±7,24 dias. A taxa de sucesso foi de 100%. Não houve mortalidade relacionada ao procedimento. CONCLUSÃO: Este estudo concluiu que o fechamento percutâneo do canal arterial em prematuros é uma realidade no Brasil, com resultados satisfatórios e baixa taxa de complicações.

BACKGROUND: The presence of patent ductus arteriosus can be as high as 50% in preterm babies. Hemodynamically significant patent ductus arteriosus is a common cause of delayed weaning of respiratory support and an important risk factor of necrotizing enterocolitis, intraventricular hemorrhage, and bronchopulmonary dysplasia in this population. OBJECTIVE: The aim of this study is to describe an initial experience of percutaneous closure of the ductus arteriosus in preterm infants weighing less than 2 kg. METHODS: This was a prospective study, comprised of 14 consecutive patients submitted to percutaneous closure of ductus arteriosus between March 2020 and February 2021 in 6 institutions in Brazil. RESULTS: Mean gestational age was 28.45±3.14 weeks, mean age at the procedure was 38.85±17.35 days and mean weight was 1.41 ±0.41 kg; 79% of the patients were under mechanical ventilation, and 79% had been submitted, on average, to a 1.5 cycle of non-steroidal anti-inflammatory drugs. Most patients were weaned off of mechanical ventilation in a mean of 12.6 ±7.24 days after the procedure. Success rate was 100%. No procedure-related mortality was observed. CONCLUSION: This study concluded that percutaneous closure of ductus arteriosus in premature babies below 2 kg has satisfactory results and a low complication rate in this study sample.

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).

Persistent left superior vena cava as an incidental finding in the introduction of a transient pacemaker: A case report / Vena cava superior izquierda persistente como hallazgo incidental en la introducción de un marcapasos transitorio: informe de un caso

The persistent left superior vena cava is the most common venous anomaly in the systemic drainage in adults and tends to be asymptomatic. The persistent left superior vena cava causes rhythm disorders such as tachyarrhythmias or bradyarrhythmias. We report a case of persistent left superior vena cava diagnosed in a 53-year-old female patient admitted due to an acute coronary syndrome associated with unstable bradycardia. A transvenous peacemaker impressed the left atrium; therefore, a transthoracic echocardiogram was required to diagnose persistent left superior vena cava. The patient needed management with percutaneous intervention; she had an adequate evolution and subsequent discharge from the intensive care unit

La vena cava superior izquierda persistente es la anomalía venosa más frecuente en el drenaje sistémico en adultos; tiende a ser asintomática, pero causa trastornos del ritmo como taquiarritmias o bradiarritmias. Se presenta un caso de vena cava superior izquierda persistente diagnosticada en una paciente de 53 años hospitalizada por un síndrome coronario agudo asociado a bradicardia inestable. Un marcapasos transvenoso dejó una impresión en la aurícula izquierda, por lo que se requirió un ecocardiograma transtorácico para diagnosticar la vena cava superior izquierda persistente. La paciente necesitó una intervención percutánea con una adecuada evolución y se le dio el alta de la unidad de cuidados intensivos.