Patients' prognosis with congenital heart disease followed by ten years: survival and associated factors / Prognóstico de pacientes com cardiopatia congênita seguidos por dez anos: sobrevida e fatores associados

ABSTRACT Objective: To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, especially those factors associated with death. Methods: Patients were prospectively and consecutively allocated over a period of one year (August 2005 to July 2006). Now, 15 years after the initial selection, we collected data from these patients in the database of the Cytogenetics Laboratory of the Universidade Federal de Ciências da Saúde de Porto Alegre and in the medical records of the hospital. Results: Of the 96 patients, 11 died and 85 were alive until 20 years old. Four patients died in the Intensive Care Unit. The survival probability up to 365 days of life was 95.8%. The survival assessment identified that the deaths occurred mainly before the patients completed one thousand days of life. We found that complex heart disease was independently associated with an odds ratio of 5.19 (95% confidence interval — CI:1.09-24.71; p=0.038) for death. Conclusions: Knowledge about the factors that interfere with the prognosis can be crucial in care practice planning, especially considering that congenital heart disease is an important cause of mortality in the first year of life.

RESUMO Objetivo: Avaliar o prognóstico e a influência de fatores associados em pacientes com cardiopatia congênita internados pela primeira vez na Unidade de Terapia Intensiva do Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, principalmente aqueles fatores associados ao óbito. Métodos: Os pacientes foram alocados prospectiva e consecutivamente por um período de um ano (agosto de 2005 a julho de 2006). Agora, 15 anos após a seleção inicial, coletamos dados desses pacientes no banco de dados do Laboratório de Citogenética da Universidade Federal de Ciências da Saúde de Porto Alegre e nos prontuários do hospital. Resultados: Dos 96 pacientes, 11 faleceram e 85 permaneceram vivos até completar 20 anos. Quatro pacientes morreram na Unidade de Terapia Intensiva. A probabilidade de sobrevida até 365 dias de vida foi de 95,8%. A avaliação da sobrevida identificou que os óbitos ocorreram principalmente antes de os pacientes completarem mil dias de vida. Verificamos que a doença cardíaca complexa foi independentemente associada a um odds ratio de 5,19 (intervalo de confiança — IC95% 1,09-24,71; p=0,038) para morte. Conclusões: O conhecimento dos fatores que interferem no prognóstico pode ser fundamental no planejamento da prática assistencial, principalmente considerando-se que as cardiopatias congênitas são importante causa de mortalidade no primeiro ano de vida.

Lactate and Lactate Clearance Are Predictive Factors for Mortality in Patients with Extracorporeal Membrane Oxygenation

ABSTRACT Introduction: Findings of inadequate tissue perfusion might be used to predict the risk of mortality. In this study, we evaluated the effects of lactate and lactate clearance on mortality of patients who had undergone extracorporeal membrane oxygenation (ECMO). Methods: Patients younger than 18 years old and who needed venoarterial ECMO support after surgery for congenital heart defects, from July 2010 to January 2019, were retrospectively analyzed. Patients successfully weaned from ECMO constituted Group 1, and patients who could not be weaned from ECMO were in Group 2. Postoperative clinics and follow-ups of the groups including mortality and discharge rates were evaluated. Results: There were 1,844 congenital heart surgeries during the study period, and 55 patients that required ECMO support were included in the study. There was no statistically significant difference between the groups regarding demographics and operative variables. The sixth-, 12th-, and 24th-hour lactate levels in Group 1 were statistically significantly lower than those in Group 2 (P=0.046, P=0.024, and P<0.001, respectively). There were statistically significant differences regarding lactate clearance between the groups at the 24th hour (P=0.009). The cutoff point for lactate level was found as ≥ 2.9, with 74.07% sensitivity and 78.57% specificity (P<0.001). The cutoff point for lactate clearance was determined as 69.44%, with 59.26% sensitivity and 78.57% specificity (P=0.003). Conclusion: Prognostic predictive factors are important to initiate advanced treatment modalities in patients with ECMO support. In this condition, lactate and lactate clearance might be used as a predictive marker.

Fatores de Risco para Infecção da Ferida Operatória em Pacientes Submetidos à Cirurgia Cardíaca Pediátrica / Risk Factors for Surgical Site Infection in Patients Undergoing Pediatric Cardiac Surgery

Resumo Fundamento A infecção do sítio cirúrgico (ISC) é uma importante complicação no pós-operatório de cirurgia cardíaca pediátrica associada ao aumento da morbimortalidade. Objetivos Identificar fatores de risco para a ISC após cirurgias cardíacas para correção de malformações congênitas. Métodos Este estudo caso-controle incluiu 189 pacientes com um ano completo e 19 anos e 11 meses, submetidos à cirurgia cardíaca em hospital universitário terciário de cardiologia de janeiro de 2011 a dezembro de 2018. Foi realizado registro e análise de dados pré, intra e pós-operatórios. Para cada caso foram selecionados dois controles, conforme o diagnóstico da cardiopatia e cirurgia realizada em um intervalo de até 30 dias para minimizar diferenças pré e/ou intraoperatórias. Para a análise dos fatores de risco foi utilizado o modelo de regressão binária logística. Significância estatística definida como valor de p<0,05. Resultados O estudo incluiu 66 casos e 123 controles. A incidência de ISC variou de 2% a 3,8%. Fatores de risco identificados: faixa etária de lactentes (OR 3,19, IC 95% 1,26 - 8,66, p=0,014), síndrome genética (OR 6,20, IC 95% 1,70 - 21,65, p=0,004), RACHS-1 categorias 3 e 4 (OR 8,40, IC 95% 3,30 - 21,34, p<0,001), o valor da proteína C reativa (PCR) de 48 horas pós-operatórias foi demonstrado como fator protetor para esta infecção (OR 0,85, IC 95% 0,73 - 0,98, p=0,023). Conclusão Os fatores de risco identificados não são variáveis modificáveis. Vigilância e medidas preventivas contínuas são fundamentais para reduzir a infecção. O papel do PCR elevado no pós-operatório foi fator protetor e precisa ser melhor estudado.

Abstract Background Surgical site infection is an important complication after pediatric cardiac surgery, associated with increased morbidity and mortality. Objectives We sought to identify risk factors for surgical site infection after pediatric cardiac surgeries. Methods A case-control study included patients aged between 1 year and 19 years and 11 months of age, submitted to cardiac surgery performed at a tertiary cardiac center from January 1 st , 2011, through December 31, 2018. Charts were reviewed for pre-, intra, and postoperative variables. We identified two randomly selected control patients with the same pathophysiological diagnosis and underwent surgery within thirty days of each index case. Univariate and multivariate logistic regression analyses were performed to identify risk factors. Statistical significance was defined as p<0.05. Results Sixty-six cases and 123 controls were included. Surgical site infection incidence ranged from 2% to 3.8%. The following risk factors were identified: Infant age (OR 3.19, 95% CI 1.26 to 8.66, p=0.014), presence of genetic syndrome (OR 6.20, CI 95% 1.70 to 21.65, p=0.004), categories 3 and 4 of RACHS-1 (OR 8.40, CI 95% 3.30 to 21.34, p<0.001), 48 h C-reactive protein level range was detected as a protective factor for this infection (OR 0.85, 95% CI 0.73 to 0.98, p=0.023). Conclusions The risk factors defined in this study could not be modified. Therefore, additional surveillance and new preventive strategies need to be implemented to reduce the incidence of surgical site infection. The increased CRP in the postoperative period was a protective factor that needs further understanding.

Influence of Congenital Heart Defect Types over Cardiopulmonary Bypass, Aortic Cross-Clamping, and Intensive Care Unit Length of Stay and Their Association with Genetic Factors

Aim: Surgical correction of congenital heart defects (CHD) often requires interruption of blood flow through cardiopulmonary bypass (CPB) and aortic cross-clamping (ACC), for which duration(s) are considered to be prognostic factors, along with intensive care unit (ICU) length of stay (ICULOS). The aim of this study was to evaluate these surgical prognostic factors in pediatric patients with different types of CHD regarding their type of lesion and associated genetic factors. Study Design: Cross-sectional cohort study with 307 pediatric patients. Place and Duration of Study: Pediatric Intensive Care Unit (ICU) of Hospital da Criança Santo Antônio, in Porto Alegre/RS, Brazil, from 2006-2009 (3 years) Methodology: After inclusion criteria, we studied 266 pediatric patients admitted for the first time in a reference cardiac pediatric ICU from Southern Brazil following cardiac surgery. Intraoperative prognostic factors such as duration of CPB, ACC and ICULOS, in addition to dysmorphological and cytogenetic examinations were compiled and analyzed. P-values of <0.05 were considered significant. Results: CPB time was associated to four outflow tract defects (Tetralogy of Fallot [ToF], transposition of the great arteries [TGA], double outlet right ventricle, and truncus arteriosus [TA]), atrioventricular septal defect, and hypoplastic left heart syndrome (HLHS) (P < 0.001). ACC duration was associated with three outflow tract defects (ToF, TGA, and TA) and HLHS (P < 0.001). Moreover, CPB and ACC times showed an association with cyanotic and complex heart defects, as well as prolonged ICULOS (P < 0.001). There was no relationship between these prognostic factors and syndromic aspects or cytogenetic findings. Conclusions: CHD type has an impact over CPB and ACC duration and ICULOS, whereas genetic factors are not associated with those prognostic factors.

El ancho de distribución eritrocitaria en el pronóstico de corrección quirúrgica de cardiopatías congénitas / Red cell distribution width in the prognosis of surgical correction of congenital heart diseases

Resumen Objetivo: Evaluar la capacidad del ancho de distribución eritrocitaria (ADE) para predecir la mortalidad en niños sometidos a cirugía cardiovascular en la Fundación Hospital Infantil Napoleón Franco Pareja, en Colombia. Método: Estudio analítico de corte transversal retrospectivo que incluyó 45 individuos de 0 a 17 años operados de cardiopatía congénita. Se aplicaron la escala RACHS-1 (Risk Adjustment in Congenital Heart Surgery) y variables de laboratorio, incluyendo el ADE. La asociación entre el ADE y la mortalidad se determinó mediante análisis por curva ROC y correlación rho de Spearman. Resultados: Un ADE superior al 15.52% representó 1.6 veces más riesgo, comparado con los individuos por debajo de ese valor (intervalo de confianza del 95%: 1.01-2.6; p = 0.034). Los valores del ADE no se correlacionaron con los días de estancia hospitalaria ni con las complicaciones. El ADE prequirúrgico y el puntaje RACHS-1 fueron significativamente mayores en el grupo de mortalidad. La relación entre el ADE prequirúrgico y el puntaje RACHS-1 fue significativa. Conclusiones: En nuestro estudio, el ADE prequirúrgico presentó un poder moderado para discriminar la mortalidad perioperatoria en la corrección quirúrgica de cardiopatías congénitas. Se precisan más estudios con mayor tamaño de muestra.

Abstract Objective: To evaluate the capacity of red cell distribution width (RDW) to predict mortality in children undergoing cardiovascular surgery at the Fundación Hospital Infantil Napoleón Franco Pareja, in Colombia. Method: Retrospective cross-sectional analytical study that included 45 individuals aged 0 to 17 years operated for congenital heart disease. The RACHS-1 (Risk Adjustment in Congenital Heart Surgery) scale and laboratory variables including the RDW were applied. The association between RDW and mortality was determined by ROC curve analysis and Spearman's rho correlation. Results: An RDW greater than 15.52% represented 1.6 times more risk, compared to individuals below that value (95% confidence interval: 1.01-2.6; p = 0.034). The RDW values did not correlate with days of hospital stay or complications. The preoperative RDW and RACHS-1 score were significantly higher in the mortality group. The relationship between presurgical RDW and the RACHS-1 score was significant. Conclusions: In our study, the preoperative RDW had moderate power to discriminate perioperative mortality in the surgical correction of congenital heart disease. More studies with a larger sample size are required.

Coração em Criss-Cross: um relato de caso / Criss-Cross Heart: a case report

Coração em criss-cross (ou coração entrecruzado) foi descrito pela primeira vez em 1974. Trata-se de uma malformação cardíaca congênita, rara, ocorrendo 8 casos a cada 1.000.000 de crianças, e representando somente 0,1% das malformações congênitas. Os métodos diagnósticos de escolha são o ecocardiograma transtorácico, a ressonância magnética cardíaca (RMC), a angiotomografia (TC) e, eventualmente, o cateterismo cardíaco. Neste relato, descreve-se o caso de um recém-nascido com coração em criss-cross somado à dupla via de saída do ventrículo direito (VD), com vasos mal posicionados, além de comunicação interatrial (CIA), comunicação interventricular (CIV), displasia de valva tricúspide e veia cava superior esquerda persistente. Não se sabe a etiologia exata dessa malformação, mas parece ocorrer pela rotação dos ventrículos em seu eixo longitudinal, não acompanhada das rotações atrial e das valvas atrioventriculares (AV). Esse movimento produz uma alteração das vias de entrada dos ventrículos, determinando que o VD se posicione em plano superior e o esquerdo em plano inferior. Apesar de ainda não se saber a exata causa dessa anomalia, acredita-se que uma alteração genética possa estar levando a esses casos: a mutação do gene Cx43. O diagnóstico do caso em questão foi dado pela ecocardiografia transtorácica e da TC de aorta e artérias pulmonares, que mostraram, além do criss-cross, outras alterações, como dupla via de saída do VD, CIA e CIV amplas.(AU)

Criss-cross heart was first described in 1974. It is a rare congenital heart malformation that occurs in 8 cases per 1,000,000 children, and represents only 0.1% of congenital malformations. The diagnostic methods of choice are transthoracic echocardiography, cardiac magnetic resonance (CMR), computed tomography angiography (CT) and, sometimes, cardiac catheterization. This report describes the case of a newborn with a criss-cross heart in addition to double-outlet right ventricle (RV), with poorly positioned vessels, in addition to atrial septal defect (ASD), interventricular septal defect, tricuspid valve dysplasia and persistent left superior vena cava. The exact etiology of this malformation is not known, but it seems to occur due to rotation of the ventricles in their longitudinal axis, not accompanied by rotation of the atrial and atrioventricular (AV) valves. This movement produces abnormal ventricular inlets, determining that the RV be positioned on a superior plane and the left ventricle on an inferior plane. Although the exact cause of this anomaly is still unknown, it is believed that a genetic abnormality may be leading to these cases: mutation of the Cx43 gene. Diagnosis of the case concerned was given by transthoracic echocardiography and computed CT of the aorta and pulmonary arteries, which showed, in addition to the criss-cross heart, other abnormalities, such as double-outlet RV, large ASD and ventricular septal defect (VSD).(AU)

Cuidado de enfermería al paciente pediátrico con tetralogía de Fallot intervenido quirúrgicamente: una revisión de alcance / Nursing care of the surgically operated pediatric patient with Tetralogy of Fallot: a scoping review

Resumen Introducción: los niños con tetralogía de Fallot afrontan grandes desafíos durante su etapa posoperatoria, por lo cual es necesario que el personal de enfermería reconozca los mecanismos involucrados en este proceso con el fin de contribuir a que estos alcancen un nivel de adaptación fisiológico y psicosocial integrado. Objetivo: establecer las intervenciones de enfermería para niños en posoperatorio paliativo o correctivo de tetralogía de Fallot. Materiales y método: a través de la metodología propuesta por Fawcett et al. y el Instituto Joanna Briggs, se realizó una búsqueda en diez bases de datos y motores de búsqueda de artículos publicados del 2014 al 2019 utilizando dos fórmulas: Pediatric AND Tetralogy of Fallot AND Postoperative y Pediatric AND Tetralogy of Fallot AND Postoperative AND Psychosocial Adaptation. Resultados: se obtuvieron 1.901 estudios, de los cuales 56 cumplieron todos los criterios de elegibilidad. Los resultados se estructuraron según el plan de atención de enfermería y se enmarcaron en los modos de adaptación y necesidades del modelo de adaptación de Callista Roy. Con la información obtenida, se construyeron doce diagnósticos NANDA correspondientes al modo de adaptación fisiológico y once al modo psicosocial. Conclusión: existe información relevante que permite establecer las intervenciones de cuidado desde el campo de acción para enfermería en este contexto de unidad de cuidado intensivo pediátrico, ya que se obtuvieron intervenciones para abordar todas las necesidades que el modelo epistemológico plantea.

Abstract Introduction: children with tetralogy of Fallot face great challenges during their postoperative stage, so it is necessary for nurses to recognize the mechanisms involved in this process, in order to help them reach an integrated physiological and psychosocial level of adaptation. Objective: to establish nursing interventions for children in palliative or corrective postoperative tetralogía de Fallot. Materials and method: using the methodology proposed by Fawcett et al. and the Joanna Briggs Institute, we searched 10 databases and search engines for articles published from 2014 to 2019 using 2 formulas: Pediatric AND Tetralogy of Fallot AND Postoperative; and Pediatric AND Tetralogy of Fallot AND Postoperative AND Psychosocial Adaptation. Results: 1.901 studies were obtained, of which 56 met all eligibility criteria. The results were structured according to the nursing care plan, and were framed within the modes of adaptation and needs of Callista Roy’s adaptation model. With the information obtained, 12 NANDA diagnoses corresponding to the physiological mode of adaptation and 11 to the psychosocial mode were constructed. Conclusion: There is relevant information that allows us to establish care interventions from the field of action for nursing in this paediatric intensive care unit context, as interventions were obtained to address all the needs that the epistemological model proposes.

Direct Anastomosis of Persistent Left Superior Vena Cava to Right Superior Vena Cava in a Pediatric Patient with Tetralogy of Fallot: an Alternative Technique

ABSTRACT The presence of persistent left superior vena cava to the left atrium connection without an innominate vein may give rise to technical challenges during intracardiac repair. In this report, the end-to-side anastomosis technique of the persistent left superior vena cava to the right superior vena cava is discussed in a patient with tetralogy of Fallot associated with persistent left superior vena cava draining directly into the left atrium. A successful end-to-side anastomosis between the persistent left superior vena cava and the right superior vena cava was performed and short-term anastomosis patency was documented via angiography.

Paternal occupational exposures and infant congenital heart defects in the Japan Environment and Children's Study

BACKGROUND@#Few prospective studies have investigated the association between paternal occupational exposures and risk of infant congenital heart defects (CHDs). We investigated the associations between paternal occupational exposures, frequency of use, and concurrent or sequential exposure to a mixture of compounds and the risk of infant CHDs.@*METHODS@#Our study examined 28,866 participants in the Japan Environment and Children's Study. Logistic regression analysis was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) associated with paternal occupational exposures during the 3 months until pregnancy was noticed after adjustment for potential confounding factors of the infant CHDs. CHD diagnosis was ascertained from medical record.@*RESULTS@#In total, 175 were diagnosed with infant CHDs. The number of fathers who were exposed to the following substances at least once a month were: 11,533 for photo copying machine/laser printer, 10,326 for permanent marker, 8,226 for soluble paint/inkjet printer, 6,188 for kerosene/petroleum/benzene/gasoline, 4,173 for organic solvents, 3,433 for chlorine bleach/germicide, 2,962 for engine oil, 2,931 for insecticide, 2,460 for medical sterilizing disinfectant, 1,786 for welding fumes, 1,614 for dyestuffs, 1,247 for any products containing lead-like solder, 986 for herbicide, 919 for radiation/radioactive substances/isotopes, 837 for lead-free solder, 341 for microbes, 319 for formalin/formaldehyde, 301 for agricultural chemical not listed above or unidentified, 196 for general anesthetic for surgery at hospital, 171 for anti-cancer drug, 147 for chromium/arsenic/cadmium, 88 for mercury and 833 for other chemical substances. Paternal occupational exposure regularly to photo copying machine or laser printer and soluble paint/inkjet printer were associated with higher risks of infant CHDs: the adjusted ORs (95%CIs) were 1.38 (1.00-1.91) and 1.60 (1.08-2.37), respectively. The higher risks were also observed for occasional exposure to engine oil, any products containing lead-like solder lead-free solder, and microbes; the adjusted ORs (95%CIs) were 1.68 (1.02-2.77), 2.03 (1.06-3.88), 3.45 (1.85-6.43), and 4.51, (1.63-12.49), respectively.@*CONCLUSIONS@#Periconceptional paternal occupational exposure was associated with a higher risk of infant CHDs. Further studies using biomarkers of the association between paternal occupational exposure and infant CHDs are warranted.

Adult Congenital Heart Disease: Report from a Public Reference Hospital in Northeastern Brazil

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

Use of Ozonized Water in the Prevention of Surgical Site Infection in Children Undergoing Cardiovascular Surgery

ABSTRACT Introduction: Since the reduction of healthcare-associated infections has been a focus for quality patient care, this study aimed to evaluate the surgical site infection rate of children who underwent cardiovascular surgery after implementation of ozonized water system for hand and body hygiene allied to previously implemented preventive measures. Methods: Two uniformly comparable groups of pediatric patients underwent cardiovascular surgery. Group A (187) patients were operated prior to installation of ozonized water system (March 1 to August 31, 2019), and group B (214) patients were operated after installation of ozonized water system (October 1, 2019, to March 31, 2020). Ozonized water was used for professional hand hygiene and patient body hygiene. Results: There was statistical significance for surgical site infection reduction in group B (P=0.0289), with a relative risk of 0.560 (95% confidence interval = 0.298 to 0.920), inferring the risk of being diagnosed with surgical site infections in group B was 44% less than in group A. There was no statistical significance regarding mechanical ventilation time (P=0.1998) or mortality (P=0.4457). Conclusion: Ozonized water for professional hand hygiene and patient body hygiene was an adjuvant combined with traditional preventive methods to reduce the risk of surgical site infection, although no impact on hospital stay or mortality was observed.

Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis

ABSTRACT Clinical data: Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight. Chest radiography: Cardiomegaly with prevalence of pulmonary vascular network. Electrocardiogram: Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block. Echocardiogram: Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs. Computed tomography: Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis. Diagnosis: Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation. Operation: Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

Incidencia y características de los pacientes portadores de defectos congénitos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell 2016-2020: 5 años de experiencia / Incidence and characteristics of patients with congenital defects at the Pereira Rossell Hospital's Neonatology Department in 2016-2020: 5 years experience / Incidência e características dos pacientes com defeitos congênitos no Serviço de Neonatologia do Centro Hospitalar Pereira Rossell 2016-2020: 5 anos de experiencia

Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.

Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.

Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.

Relationship of MTHFD1 G1958A and CBS 844ins68 polymorphism with congenital heart defects in North Indian population (Jammu and Kashmir): A case-control study

Objectives: There are many multifactorial causes for Congenital Heart Defects (CHDs) in which both genetic and non-genetic factors play role. MTHFD1 and CBS are two of the key enzymes that plays pivotal role in the metabolic pathway of homocysteine. Most of the studies revealed that genes involved in folate/homocysteine pathways are involved in the occurrence of CHDs. The present study was planned to investigate the role of common polymorphisms in MTHFD1 and CBS gene in children with CHD in Jammu region of Jammu and Kashmir UT. Material and Methods: A total of 160 (80 CHD patients and 80 controls) children were enrolled for the present case-control study. After extraction of genomic DNA genotyping of SNP MTHFD1 G1958A(rs2236225) was done by PCR-RFLP and CBS 844ins68 polymorphism was done by PCR technique. Results: Our results show that there is no significant association between MTHFD1G1958A and CBS 844ins68 polymorphism with CHD. In case of SNP MTHFD1 G1958A allele A found to be higher in both patient and control group and inCBS 844ins68 polymorphism frequency of risk allele ‘I’ found higher in cases (0.06) as compared to controls (0.04). The homozygous genotype for 844ins68 (II) was found absent in both the patients and control group. Conclusion: We conclude that both MTHFD1 G1958A and CBS 844ins68 polymorphism were not found to be genetic risk factor in the development of CHD in population of Jammu region of Jammu and Kashmir UT

Pregestational Diabetes and Congenital Heart Defects / Diabetes pré-gestacional e defeitos cardíacos congênitos

Abstract Studies have consistently shown a significant increase in the risk of congenital heart defects in the offspring of diabetic mothers compared with those of nondiabetic pregnancies. Evidence points that all types of pregestational diabetes have the capacity of generating cardiac malformations in a more accentuated manner than in gestational diabetes, and there seems to be an increased risk for all congenital heart defects phenotypes in the presence of maternal diabetes. Currently, the application of some therapies is under study in an attempt to reduce the risks inherent to diabetic pregnancies; however, it has not yet been possible to fully prove their effectiveness. The present review aims to better understand the mechanisms that govern the association between pregestational diabetes and congenital heart defects and how maternal diabetes interferes with fetal cardiac development, as there is still a long way to go in the investigation of this complex process.

Resumo Estudos têm demonstrado consistentemente um aumento significativo no risco de defeitos cardíacos congênitos em filhos de mães diabéticas em comparação com os de gestações não diabéticas. Evidências apontam que todos os tipos de diabetes pré-gestacional têm capacidade de gerar malformações cardíacas mais acentuadas do que no diabetes gestacional e parece haver um risco aumentado para todos os fenótipos de cardiopatias congênitas na presença de diabetes materno. Atualmente, está em estudo a aplicação de algumas terapias na tentativa de diminuir os riscos inerentes à gravidez diabética; no entanto, ainda não foi possível comprovar totalmente a sua eficácia. A presente revisão visa compreender melhor os mecanismos que regem a associação entre diabetes pré-gestacional e cardiopatias congênitas e como o diabetes materno interfere no desenvolvimento cardíaco fetal, pois ainda há um longo caminho a percorrer na investigação deste processo complexo.

A New Dawn for Brazilian Pediatric Cardiac Surgery Is on the Way - Issues Around and Outside the Operating Room

ABSTRACT In some developing countries, congenital heart disease still stands out among the leading causes of death in the first year of life. Therefore, there is a great need to develop programs designed to improve outcomes in the diagnosis and surgical treatment of congenital heart disease in these nations, where children have always been and still are severely underserved. The Brazilian Public Health Care System demands universal access to treatment as a constitutional right. Therefore, an underfunded Pediatric Cardiac Surgery program is unacceptable since it will cost lives and increase the infant mortality rate. Additionally, poor funding decreases providers' interest, impedes technological advances and multidisciplinary engagement, and reduces access to comprehensive care. Unfortunately, in most developing countries, Pediatric Cardiac Surgery progress is still the result of isolated personal efforts, dedication, and individual resilience. This article aims to present the current state of Brazilian pediatric cardiac surgery and discuss the structural and human limitations in developing a quality care system for children with congenital heart disease. Considering such constraints, quality improvement programs via International collaboration with centers of excellence, based on proper data collection and outcomes analysis, have been introduced in the country. Such initiatives should bring a new dawn to Brazilian Pediatric Cardiac Surgery.

Congenitally Corrected Transposition of the Great Arteries in the Adult

ABSTRACT Introduction: Congenitally corrected transposition of the great arteries (CCTGA) is a rare anomaly. Current data available regarding adult cases is derived from small series, information simultaneously presented in pediatric publications, and one classical multicenter study. This review, not aimed to exhaust the subject, has the purpose to examine the literature addressing presentation, diagnostic methodology, and management of afflicted adult patients. Methods: A comprehensive search was undertaken in three major databases (PubMed, Cochrane, SciELO), using the keywords "congenitally corrected transposition of the great arteries" and "adults". Relevant articles in English, Spanish, and Portuguese were extracted and critically appraised in this review. Steps for study selection were: (1) identification of titles of records through databases searching, (2) removal of duplicates, (3) screening and selection of abstracts, (4) final inclusion in the study. Results: Four hundred sixty-five publications on CCTGA in adult patients were retrieved, and 166 were excluded; 299 studies were used for this review including 76 full-text articles, 70 studies related to general aspects of the subject, and, due to the small number of publications, 153 case reports. Sixty-one articles referring to combined experiences in pediatric and adult patients and judged to be relevant, but retrieved from another sources, were also included. Conclusion: Albeit clinical presentation and diagnostic criteria have been well stablished, there seems to be room for discussion related to clinical and surgical management of CCTGA in adults. Considering the rarity of the disease, well designed multicenter studies may provide answers.

Insuficiencia mitral congénita en el adulto: reporte de un caso y revisión de la literatura / Congenital mitral regurgitation in adults: a case report and literature review

Congenital mitral valve disease is a rare form of mitral regurgitation. The etiological diagnosis is often challenging. The transthoracic echocardiogram is presented as a good initial approach method. The case of a 29-year-old patient referred for the diagnosis of severe congenital mitral regurgitation in parachute is presented. This report aims to illustrate the clinical and echocardiographic presentation of congenital mitral regurgitation.

Anomalías congénitas frecuentes en Uruguay entre 2011 y 2014: importancia de un registro para la evaluación de las necesidades de salud / Frequent congenital anomalies in Uruguay in 2011-2014; importance of a medical record for health assessment / Anomalias congênitas frequentes no Uruguai entre 2011-2014, importância de um registro para avaliação das necessidades de saúde

Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.

Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.

Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.

Factors affecting the clinical outcomes in pediatric post-cardiotomy patients requiring perioperative peritoneal dialysis

SUMMARY OBJECTIVE: Fluid overload is associated with increased mortality and morbidity in pediatric cardiac surgery. In the pediatric age group, peritoneal dialysis might improve postoperative outcome with avoiding fluid overload and electrolyte imbalance. It preserves hemodynamic status with the advantage of passive drainage. In this study, we are reporting our results of peritoneal dialysis after cardiac surgery. METHODS: In this retrospective study, we evaluated the patients who underwent pediatric cardiac surgery in our hospital between December 2010 and January 2020. Patients who required peritoneal dialysis during hospitalization period were included in the study. Patients' clinical status and outcomes were evaluated. RESULTS: Peritoneal dialysis was performed to 89 patients during the study period. The age varies from the newborn to 4 years old. The indication of peritoneal dialysis was prophylactic in 68.5% (n=61) and for the treatment in 31.5% (n=28). There were 31 mortalities. The risk factors for the mortality were preoperative lower age, longer cardiopulmonary bypass time, lengthened intubation, lengthened inotropic support, and requirement of extracorporeal membrane oxygenation (p<0.0001). CONCLUSION: Earlier initiation of peritoneal dialysis in pediatric cardiac surgery helps maintain hemodynamic instability by avoiding fluid overload, considering the difficulty in the treatment of electrolyte imbalance and diuresis.