Newborn pulse oximetry screening coverage in a nationwide complex survey sample: An assessment of a congenital heart disease early detection program at the regional level in Brazil.

OBJECTIVES: To estimate the coverage of newborn pulse oximetry screening (POS) in Brazil, as well as identifies associated factors and the proportion of positive screening results. METHODS: Coverage was estimated based on the most recent National Health Survey (2019). Adjusted marginal prevalence ratios were estimated via poisson regression model with robust variance. RESULTS: The POS coverage was 66.3 % (95 %CI: 65.5-67.1; N = 3,140,023) and was higher in children born in privately funded hospitals (PFHs) than in the Unified Health System (SUS): 78.1 % (76.7-79.5) versus 61.1 % (60.2-62.1). In the North region, the POS coverage in PFHs (64.9 %, 59.7-70.1) was lower than that in the South (82.5 %, 79.4-85.6) and the Southeast (81.5 %, 79.3-83.6); it was even lower in SUS in the North (44.0 %; 42.4-45.6). After a federal ordinance providing financial resources to postscreening diagnostic, the screening coverage in SUS increased from 57.6 % (56.2-59.1) to 64.6 % (63.3-65.9). The proportion of positive screening tests was 9.2 % (8.9-9.5) in SUS and 7.8 % (7.3-8.3) in PFHs, of which 40.8 % (40.5-41.1) underwent complementary exams in SUS and 57.2 % (56.7-57.7) in PFHs. In the multivariate model, the main independent predictors of POS were the coverage of other newborn screening tests. CONCLUSIONS: Inequalities were found between major regions and healthcare systems. Government financial incentives have reduced this inequality, although the percentage of postscreening complementary exams remains insufficient and unequal. The main independent predictors of screening prevalence were those related to the organization of health services.

Challenges of Congenital Heart Surgery in Brazil: It is Time to Designate Pediatric Congenital Heart Surgery Subspecialty.

Congenital heart disease (CHD) affects eight to ten out of every 1,000 births, resulting in approximately 23,057 new cases in Brazil in 2022. About one in four children with CHD requires surgery or other procedures in the first year of life, and it is expected that approximately 81% of these children with CHD will survive until at least 35 years of age. Professionals choosing to specialize in CHD surgery face numerous challenges, not only related to mastering surgical techniques and the complexity of the diseases but also to the lack of recognition by medical societies as a separate subspecialty. Furthermore, families face difficulties when access to services capable of providing treatment for these children. To address these challenges, it is essential to have specialized hospitals, qualified professionals, updated technologies, sustainable industry, appropriate financing, quality assessment systems, and knowledge generation. The path to excellence involves specialization across all involved parties. As we reflect on the importance of Pediatric Cardiovascular Surgery and Congenital Heart Diseases establishing themselves as a subspecialty of Cardiovascular Surgery, it is essential to look beyond our borders to countries like the United States of America and United Kingdom, where this evolution is already a reality. This autonomy has led to significant advancements in research, education, and patient care outcomes, establishing a care model. By following this path in Brazil, we not only align our practice with the highest international standards but also demonstrate our maturity and the ability to meet the specific needs of patients with CHD and those with acquired childhood heart disease.

Comparative Analysis of Modified BT Shunt and Central Shunt in Pediatric Patients.

INTRODUCTION: Cyanotic congenital heart diseases constitute 40-45% of all congenital heart diseases. In patients who are not suitable for primary repair, modified BT (MBT) shunt and central shunt (CS) procedures are still frequently used. METHODS: This study included 62 pediatric patients who underwent MBT shunt or CS via median sternotomy. Patients' demographic, echocardiographic, operative, and postoperative data were collected retrospectively. The patients were classified as single ventricle and bi-ventricle according to their cardiac anatomy, and the presence of prematurity and heterotaxy was noted. Procedure details of the patients who underwent endovascular intervention prior to the surgery were investigated, and operation data were accessed from the surgery notes. Data regarding postoperative follow-ups were obtained and comparatively analyzed. RESULTS: Of the total 62 patients, 32 (51.6%) were newborns and 16 (25.8%) had a body weight < 3 kg. MBT shunt was applied to 48 patients (77.4%), while CS was applied to 14 patients (22.6%). There was no significant difference between the two surgical procedures in terms of requirement for urgent shunt or cardiopulmonary bypass, additional simultaneous surgical intervention, need for high postoperative inotropes, and in-hospital mortality (P>0.05). The rate of congestive heart failure in patients with in-hospital mortality was determined as 66.7% and it was significantly higher than in patients without heart failure (P<0.001). CONCLUSION: MBT shunt and CS are still frequently used in cyanotic patients. The use of small-diameter shunts, particularly when centrally located, can prevent the onset of congestive heart failure and lower mortality.

Cost-utility analysis of palivizumab for preventing respiratory syncytial virus in preterm neonates and infants in Colombia.

AIM: Palivizumab has proven effective in reducing hospitalizations, preventing severe illness, improving health outcomes, and reducing healthcare costs for infants at risk of respiratory syncytial virus (RSV) infection. We aim to assess the value of palivizumab in preventing RSV infection in high-risk infants in Colombia, where RSV poses a significant threat, causing severe respiratory illness and hospitalizations. METHODS: We conducted a decision tree analysis to compare five doses of palivizumab with no palivizumab. The study considered three population groups: preterm neonates (≤ 35 weeks gestational age), infants with bronchopulmonary dysplasia (BPD), and infants with hemodynamically significant congenital heart disease (CHD). We obtained clinical efficacy data from IMpact-RSV and Cardiac Synagis trials, while we derived neonatal hospitalization risks from the SENTINEL-1 study. We based hospitalization and recurrent wheezing management costs on Colombian analyses and validated them by experts. We estimated incremental cost-effectiveness ratios and performed 1,000 Monte Carlo simulations for probabilistic sensitivity analyses. RESULTS: Palivizumab is a dominant strategy for preventing RSV infection in preterm neonates and infants with BPD and CHD. Its high efficacy (78% in preventing RSV in preterm infants), the substantial risk of illness and hospitalization, and the high costs associated with hospitalization, particularly in neonatal intensive care settings, support this finding. The scatter plots and willingness-to-pay curves align with these results. CONCLUSION: Palivizumab is a cost-saving strategy in Colombia, effectively preventing RSV infection in preterm neonates and infants with BPD and CHD by reducing hospitalizations and lowering healthcare costs.

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

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.

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.

Comparative Analysis of Modified BT Shunt and Central Shunt in Pediatric Patients

ABSTRACT Introduction: Cyanotic congenital heart diseases constitute 40-45% of all congenital heart diseases. In patients who are not suitable for primary repair, modified BT (MBT) shunt and central shunt (CS) procedures are still frequently used. Methods: This study included 62 pediatric patients who underwent MBT shunt or CS via median sternotomy. Patients' demographic, echocardiographic, operative, and postoperative data were collected retrospectively. The patients were classified as single ventricle and bi-ventricle according to their cardiac anatomy, and the presence of prematurity and heterotaxy was noted. Procedure details of the patients who underwent endovascular intervention prior to the surgery were investigated, and operation data were accessed from the surgery notes. Data regarding postoperative follow-ups were obtained and comparatively analyzed. Results: Of the total 62 patients, 32 (51.6%) were newborns and 16 (25.8%) had a body weight < 3 kg. MBT shunt was applied to 48 patients (77.4%), while CS was applied to 14 patients (22.6%). There was no significant difference between the two surgical procedures in terms of requirement for urgent shunt or cardiopulmonary bypass, additional simultaneous surgical intervention, need for high postoperative inotropes, and in-hospital mortality (P>0.05). The rate of congestive heart failure in patients with in-hospital mortality was determined as 66.7% and it was significantly higher than in patients without heart failure (P<0.001). Conclusion: MBT shunt and CS are still frequently used in cyanotic patients. The use of small-diameter shunts, particularly when centrally located, can prevent the onset of congestive heart failure and lower mortality.

Challenges of Congenital Heart Surgery in Brazil: It is Time to Designate Pediatric Congenital Heart Surgery Subspecialty

ABSTRACT Congenital heart disease (CHD) affects eight to ten out of every 1,000 births, resulting in approximately 23,057 new cases in Brazil in 2022. About one in four children with CHD requires surgery or other procedures in the first year of life, and it is expected that approximately 81% of these children with CHD will survive until at least 35 years of age. Professionals choosing to specialize in CHD surgery face numerous challenges, not only related to mastering surgical techniques and the complexity of the diseases but also to the lack of recognition by medical societies as a separate subspecialty. Furthermore, families face difficulties when access to services capable of providing treatment for these children. To address these challenges, it is essential to have specialized hospitals, qualified professionals, updated technologies, sustainable industry, appropriate financing, quality assessment systems, and knowledge generation. The path to excellence involves specialization across all involved parties. As we reflect on the importance of Pediatric Cardiovascular Surgery and Congenital Heart Diseases establishing themselves as a subspecialty of Cardiovascular Surgery, it is essential to look beyond our borders to countries like the United States of America and United Kingdom, where this evolution is already a reality. This autonomy has led to significant advancements in research, education, and patient care outcomes, establishing a care model. By following this path in Brazil, we not only align our practice with the highest international standards but also demonstrate our maturity and the ability to meet the specific needs of patients with CHD and those with acquired childhood heart disease.

Strengthening the Concept of Burden in Congenital Heart Diseases as a Contributor in Achieving Sustainable Development Goals: A Bibliometric Study

Abstract Introduction Since more children with congenital heart disease (CHD) are surviving, policy changes are needed to improve their survival and quality of life. Global data and a literature review were systematically analyzed using The Global, Regional, and National Burden of CHDs, Global Burden of Disease (GBD) Study, published in The Lancet Child & Adolescent Health, which provided estimates of mortality from CHD. Objective To outline studies with CHDs and the concept of burden as a possible contributor to the achievement of sustainable development goals (SDGs) over time. Methods Bibliographic references and related authors (2005 to 2022) were researched and analyzed. Web of Science (WoS), Clarivate Analytics, was chosen as the source database to outline the results through bibliometric analysis, which is characterized by a quantitative and statistical technique to understand and measure new issues, as well as identify some trends in current research, regarding the issue of burden in CHDs. Results Sixty-five selected publications were found according to the bibliographic survey using the keywords "Burden CHDs." Afterwards, bibliometric analysis was performed, filtering the following results: years of publication; countries/regions; authors and number of citations; citation analysis; WoS index; types of documents; and research areas. The results are presented as figures. Conclusion The concept of burden addressing the issue of CHD has been used with great propriety for the development of goals for care of CHDs, mainly in the last decade, highlighting the year 2020.

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.

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

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.

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.

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

BACKGROUND: Opitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias. METHODS: Targeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated. RESULTS: We identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B-box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported. CONCLUSION: A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.

Omphalocele: clinical and epidemiological profile of patients born in a tertiary care center in Rio de Janeiro.

BACKGROUND: The objective of this paper is to describe the clinical and epidemiological profile and the early outcomes of patients with omphalocele born in a fetal medicine, pediatric surgery, and genetics reference hospital in Rio de Janeiro - Brazil. To determine its prevalence, describe the presence of genetic syndromes, and congenital malformations, emphasizing the characteristics of congenital heart diseases and their most common types. METHODS: Using Latin-American Collaborative Study of Congenital Malformations (ECLAMC) database and records review, a retrospective cross-sectional study was performed, including all patients born with omphalocele between January 1st, 2016, and December 31st, 2019. RESULTS: During the period of the study, our unity registered 4,260 births, 4,064 were live births and 196 stillbirths. There were 737 diagnoses of any congenital malformation, among them 38 cases of omphalocele, 27 were live born, but one was excluded for missing data. 62.2% were male, 62.2% of the women were multiparous and 51.3% of the babies were preterm. There was an associated malformation in 89.1% of the cases. Heart disease was the most common (45.9%) of which tetralogy of Fallot was the most frequent (23.5%). Mortality rate was 61.5%. CONCLUSIONS: Our data showed a good correspondence with the existing literature. Most patients with omphalocele had other malformations, especially congenital heart disease. No pregnancy was interrupted. The presence of concurrent defects showed a huge impact on prognosis, since, even if most survived birth, few remained alive and received hospital discharge. Based on these data, fetal medicine and neonatal teams must be able to adjust parents counseling about fetal and neonatal risks, especially when other congenital diseases are present.

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.

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.

Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, especially in individuals with a mild phenotype. Nowadays, different cytogenetic methodologies have emerged and are used routinely in research laboratories. Hence, choosing an efficient technology and providing an accurate interpretation of clinical findings is crucial for 22q11.2DS patient's diagnosis. This systematic review provides an update of the last 20 years of research on 22q11.2DS patients with CHD and the investigation process behind each diagnosis. A search was performed in PubMed, Embase, and LILACS using all entry terms to DiGeorge syndrome, CHDs, and cytogenetic analysis. After screening, 60 papers were eligible for review. We present a new insight of ventricular septal defect as a possible pivotal cardiac finding in individuals with 22q11.2DS. Also, we describe molecular technologies and cardiac evaluation as valuable tools in order to guide researchers in future investigations.

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)