Heart Transplantation in Children and Adults With Congenital Heart Disease: 3 Decades of Evolution.

Heart transplantation is the treatment of choice for children and adults with congenital heart disease. We report the heart transplant single-center experience. The number of transplantations has increased over the last 3 decades. The Kaplan-Meier survival curves in the first, second, and third decades at 5 and 10 years were 69% and 59%, 62% and 52%, and 66% and 60%, respectively.

Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center. / Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil.

BACKGROUND: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. OBJECTIVE: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. METHODS: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. RESULTS: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. CONCLUSION: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.

FUNDAMENTO: Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. OBJETIVO: A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. MÉTODOS: Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. RESULTADOS: A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. CONCLUSÃO: Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.

Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil / Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center

Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. Objetivo A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. Métodos Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. Resultados A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. Conclusão Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.

Abstract Background Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.

Case Report: Dilated Cardiomyopathy in a Newborn, a Potential Association With SARS-COV-2.

Objective: The objective of this study was to describe the clinical course of a newborn who developed dilated cardiomyopathy (DCM) after COVID-19 infection. Methods: We retrospectively assessed the clinical notes of a pediatric patient with decompensated heart failure and who was previously positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Results: A 23-day-old newborn presented with diarrhea, hypoactivity, tachypnea, and lethargy. The infant progressed to develop respiratory failure and required orotracheal intubation due to apnea. A nasopharyngeal swab tested positive for SARS-COV-2. An echocardiogram (ECHO) demonstrated severe left ventricular dysfunction. The patient was discharged after 18 days with furosemide and angiotensin-converting enzyme inhibitors. During the follow-up period, the infant had two episodes of decompensated heart failure, with evidence of DCM. Investigations for known causes of secondary DCM were negative. The infant was promptly referred for heart transplantation. Conclusion: Although rare, we have observed a case of DCM in a newborn following COVID-19 disease. DCM may be a complication following COVID-19 disease in newborns.

Heart Retransplantation for Coronary Allograft Vasculopathy in Children: 25 Years of Single-Center Experience.

BACKGROUND: Pediatric end-stage heart disease is surgically managed by heart transplantation. A major complication of primary transplantation (PTx) is coronary allograft vasculopathy (CAV), a form of accelerated atherosclerosis. Retransplantation (RTx) has been the management of CAV; however, there is limited comprehensive literature on this subject. Here we report 25 years of single-center experience in managing CAV with RTx and place it in the context of recent studies. METHODS: A retrospective cohort study was undertaken on patients who underwent PTx <18 years old and subsequent RTx due to CAV at the Heart Institute (InCor) University of São Paulo Medical School between 1992 and 2018. The maintenance immunosuppression protocol was double immunosuppression. For both PTx and RTx, quantitative and qualitative analyses were conducted for transplantation indication, donor/recipient demographics, post-transplant survival, rejection, infection, and immunosuppression. RESULTS: Between 1992 and 2018, 200 children underwent heart transplantation. Ten re-transplantations were performed, for which 7 (70%) were for CAV. Ages at RTx ranged from 11.5 to 29.3 years (19.1 ± 5.68 years; median 18.2 years). The mean time between PTx and RTx was 12.9 ± 3.4 years (median 13.4 years). The Kaplan-Meier survival rate at 1 month, 3 years, and 5 years was 85.7%, 71.5%, and 47.6%, respectively. CONCLUSION: Cardiac RTx can be a management option for CAV in patients who have undergone PTx in childhood with double immunosuppression therapy.

Pregnancy in Women with Complex Congenital Heart Disease. A Constant Challenge / Gravidez em Portadoras de Cardiopatias Congênitas Complexas: Um Constante Desafio

Abstract Background: The improvement in surgical techniques has contributed to an increasing number of childbearing women with complex congenital heart disease (CCC). However, adequate counseling about pregnancy in this situation is uncertain, due to a wide variety of residual cardiac lesions. Objectives: To evaluate fetal and maternal outcomes in pregnant women with CCC and to analyze the predictive variables of prognosis. Methods: During 10 years we followed 435 consecutive pregnancies in patients (pts) with congenital heart disease. Among of them, we selected 42 pregnancies in 40 (mean age of 25.5 ± 4.5 years) pts with CCC, who had been advised against pregnancy. The distribution of underlying cardiac lesions were: D-Transposition of the great arteries, pulmonary atresia, tricuspid atresia, single ventricle, double-outlet ventricle and truncus arteriosus. The surgical procedures performed before gestation were: Fontan, Jatene, Rastelli, Senning, Mustard and other surgical techniques, including Blalock, Taussing, and Glenn. Eight (20,0%) pts did not have previous surgery. Nineteen 19 (47.5%) pts had hypoxemia. The clinical follow-up protocol included oxygen saturation recording, hemoglobin and hematocrit values; medication adjustment to pregnancy, anticoagulation use, when necessary, and hospitalization from 28 weeks, in severe cases. The statistical significance level considered was p < 0.05. Results: Only seventeen (40.5%) pregnancies had maternal and fetal uneventful courses. There were 13 (30.9%) maternal complications, two (4.7%) maternal deaths due to hemorrhage pos-partum and severe pre-eclampsia, both of them in women with hypoxemia. There were 7 (16.6%) stillbirths and 17 (40.5%) premature babies. Congenital heart disease was identified in two (4.1%) infants. Maternal and fetal complications were higher (p < 0.05) in women with hypoxemia. Conclusions: Pregnancy in women with CCC was associated to high maternal and offspring risks. Hypoxemia was a predictive variable of poor maternal and fetal outcomes. Women with CCC should be advised against pregnancy, even when treated in specialized care centers.

Resumo Fundamento: A contínua habilidade na conduta das cardiopatias congênitas complexas (CCC) tem permitido o alcance da idade fértil. Contudo, a heterogeneidade das lesões cardíacas na idade adulta limita a estimativa do prognóstico da gravidez. Objetivo: Estudar a evolução materno-fetal das gestantes portadoras de CCC e analisar as variáveis presumíveis de prognóstico. Método: No período de 10 anos, 435 gestantes portadoras de cardiopatias congênitas foram consecutivamente incluídas no Registro do Instituto do Coração (Registro-InCor). Dentre elas, foram selecionadas 42 gestações em 40 mulheres com CCC (24,5 ± 3,4 anos) que haviam sido desaconselhadas a engravidar. As cardiopatias de base distribuíram-se em: transposição das grandes artérias, atresia pulmonar, atresia tricúspide, ventrículo único, dupla via de saída de ventrículo direito, dupla via de entrada de ventrículo esquerdo e outras lesões estruturais. As cirurgias realizadas foram Rastelli, Fontan, Jatene, Senning, Mustard e outros procedimentos combinados, como tunelização, Blalock Taussing e Glenn. Oito pacientes (20%) não haviam sido operadas, e 19 (47,5%) apresentavam hipoxemia. O protocolo de atendimento incluiu: registro da saturação de oxigênio, hemoglobina sérica, hematócrito, ajuste das medicações, anticoagulação individualizada e hospitalização a partir de 28 semanas de gestação, em face da gravidade do quadro clínico e obstétrico. Na análise estatística, o nível de significância adotado foi de 0,05. Resultado: Somente 17 gestações (40,5%) não tiveram complicações maternas nem fetais. Houve 13 problemas maternos (30,9%) e 2 mortes (4,7%) causadas por hemorragia pós-parto e pré-eclâmpsia grave, ambas em pacientes que apresentavam hipoxemia. Houve 7 perdas fetais (16,6%), 17 bebês prematuros (40,5%) e 2 recém-nascidos (4,7%) com cardiopatia congênita. As complicações materno-fetais foram significativamente maiores em pacientes que apresentavam hipoxemia (p < 0,05). Conclusão: O alcance da idade reprodutiva em pacientes com CCC é crescente; contudo, a má evolução materno-fetal desaconselha a gravidez, particularmente nas pacientes que apresentam hipoxemia.

Pregnancy in Women with Complex Congenital Heart Disease. A Constant Challenge.

BACKGROUND: The improvement in surgical techniques has contributed to an increasing number of childbearing women with complex congenital heart disease (CCC). However, adequate counseling about pregnancy in this situation is uncertain, due to a wide variety of residual cardiac lesions. OBJECTIVES: To evaluate fetal and maternal outcomes in pregnant women with CCC and to analyze the predictive variables of prognosis. METHODS: During 10 years we followed 435 consecutive pregnancies in patients (pts) with congenital heart disease. Among of them, we selected 42 pregnancies in 40 (mean age of 25.5 ± 4.5 years) pts with CCC, who had been advised against pregnancy. The distribution of underlying cardiac lesions were: D-Transposition of the great arteries, pulmonary atresia, tricuspid atresia, single ventricle, double-outlet ventricle and truncus arteriosus. The surgical procedures performed before gestation were: Fontan, Jatene, Rastelli, Senning, Mustard and other surgical techniques, including Blalock, Taussing, and Glenn. Eight (20,0%) pts did not have previous surgery. Nineteen 19 (47.5%) pts had hypoxemia. The clinical follow-up protocol included oxygen saturation recording, hemoglobin and hematocrit values; medication adjustment to pregnancy, anticoagulation use, when necessary, and hospitalization from 28 weeks, in severe cases. The statistical significance level considered was p < 0.05. RESULTS: Only seventeen (40.5%) pregnancies had maternal and fetal uneventful courses. There were 13 (30.9%) maternal complications, two (4.7%) maternal deaths due to hemorrhage pos-partum and severe pre-eclampsia, both of them in women with hypoxemia. There were 7 (16.6%) stillbirths and 17 (40.5%) premature babies. Congenital heart disease was identified in two (4.1%) infants. Maternal and fetal complications were higher (p < 0.05) in women with hypoxemia. CONCLUSIONS: Pregnancy in women with CCC was associated to high maternal and offspring risks. Hypoxemia was a predictive variable of poor maternal and fetal outcomes. Women with CCC should be advised against pregnancy, even when treated in specialized care centers.

Long-Term Evaluation of Post-transplant Lymphoproliferative Disorders in Paediatric Heart Transplantation in Sao Paulo, Brazil.

We sought to better define the demographics and characteristics of post-transplant lymphoproliferative disorders (PTLD) in a cohort of paediatric OHT patients from a developing country. Data were collected from the Heart Institute, Sao Paulo, for all paediatric OHT recipients from October 1992 to October 2018. Group differences between the PTLD and non-PTLD cohorts were assessed by Fisher exact and Mann-Whitney U tests. Kaplan-Meier curves analysed the survival in each group. Data were reviewed for 202 paediatric OHT recipients. Overall 1-, 5- and 10-year survival for the entire cohort was 76.5%, 68.3% and 62.9%; 24 patients (11.9%) developed PTLD at a median 3.1 years (IQR 0.8-9.0) after OHT. Cases were evenly spread over the follow-up period, with PTLD diagnosed in 9.8% (n = 137) of patients who were alive at 3 years, 15.3% (n = 78) of patients who were alive at 5 years and 29.3% (n = 41) of patients who were alive at 10 years. The commonest form of PTLD was diffuse large B cell lymphoma (n = 9), and most patients received rituximab with immunosuppression and chemotherapy as treatment (n = 15). We identified no increased risk in mortality amongst the PTLD vs. non-PTLD cohorts in multivariate analysis (P = 0.365). PTLD after paediatric OHT had acceptable outcomes. However, risk factors for PTLD were not identified and warrant further investigation.

Palliative Senning in the Treatment of Congenital Heart Disease with Severe Pulmonary Hypertension.

BACKGROUND: Transposition of the great arteries (TGA) is the most common cyanotic cardiopathy, with an incidence ranging between 0.2 and 0.4 per 1000 live births. Many patients not treated in the first few months of life may progress with severe pulmonary vascular disease. Treatment of these patients may include palliative surgery to redirect the flow at the atrial level. OBJECTIVE: Report our institutional experience with the palliative Senning procedure in children diagnosed with TGA and double outlet right ventricle with severe pulmonary vascular disease, and to evaluate the early and late clinical progression of the palliative Senning procedure. METHODS: Retrospective study based on the evaluation of medical records in the period of 1991 to 2014. Only patients without an indication for definitive surgical treatment of the cardiopathy due to elevated pulmonary pressure were included. RESULTS: After one year of follow-up there was a mean increase in arterial oxygen saturation from 62.1% to 92.5% and a mean decrease in hematocrit from 49.4% to 36.3%. Lung histological analysis was feasible in 16 patients. In 8 patients, pulmonary biopsy grades 3 and 4 were evidenced. CONCLUSION: The palliative Senning procedure improved arterial oxygen saturation, reduced polycythemia, and provided a better quality of life for patients with TGA with ventricular septal defect, severe pulmonary hypertension, and poor prognosis.

Palliative Senning in the Treatment of Congenital Heart Disease with Severe Pulmonary Hypertension / Senning Paliativo no Tratamento de Cardiopatias Congênitas com Hipertensāo Pulmonar Grave

Background:Transposition of the great arteries (TGA) is the most common cyanotic cardiopathy, with an incidence ranging between 0.2 and 0.4 per 1000 live births. Many patients not treated in the first few months of life may progress with severe pulmonary vascular disease. Treatment of these patients may include palliative surgery to redirect the flow at the atrial level.Objective:Report our institutional experience with the palliative Senning procedure in children diagnosed with TGA and double outlet right ventricle with severe pulmonary vascular disease, and to evaluate the early and late clinical progression of the palliative Senning procedure.Methods:Retrospective study based on the evaluation of medical records in the period of 1991 to 2014. Only patients without an indication for definitive surgical treatment of the cardiopathy due to elevated pulmonary pressure were included.Results:After one year of follow-up there was a mean increase in arterial oxygen saturation from 62.1% to 92.5% and a mean decrease in hematocrit from 49.4% to 36.3%. Lung histological analysis was feasible in 16 patients. In 8 patients, pulmonary biopsy grades 3 and 4 were evidenced.Conclusion:The palliative Senning procedure improved arterial oxygen saturation, reduced polycythemia, and provided a better quality of life for patients with TGA with ventricular septal defect, severe pulmonary hypertension, and poor prognosis.

Fundamento:A transposição das grandes artérias (TGA) é a cardiopatia cianogênica mais comum, com incidência variando de 0,2 a 0,4 por 1000 nascidos vivos. Muitos dos pacientes não tratados nos primeiros meses de vida podem evoluir com doença vascular pulmonar grave, e um método terapêutico para o tratamento desses pacientes pode ser realizado por meio de uma cirurgia paliativa para redirecionamento do fluxo em nível atrial.Objetivo:Relatar a experiência institucional com a cirurgia de Senning paliativo em crianças com diagnóstico de TGA e dupla via de saída do ventrículo direito com doença vascular pulmonar severa. Avaliar, também, a evolução clínica precoce e tardia da operação de Senning paliativo.Métodos:Estudo retrospectivo, baseado na avaliação de prontuários no período de 1991 a 2014. Somente pacientes sem indicação para o tratamento cirúrgico definitivo da cardiopatia em razão de elevadas pressões pulmonares.Resultados:Evidenciou-se após um ano de evolução um aumento médio da saturação arterial de oxigênio de 62,1% para 92,5% e uma redução média do hematócrito de 49,4% para 36,3%. A análise da histologia pulmonar foi possível em 16 pacientes. Em oito pacientes foi evidenciada lesão pulmonar grau 3 e 4.Conclusão:A cirurgia de Senning paliativo melhorou a saturação de oxigênio arterial, reduziu a policitemia e proporcionou uma melhora da qualidade de vida em pacientes com TGA com comunicação interventricular, os quais possuíam hipertensão pulmonar severa com prognóstico fechado.

Transplante cardíaco em crianças: visão atual e perspectivas futuras / Heart transplant in children: current view and future perspectives

O transplante cardíaco em crianças tem sido opção nas cardiopatias congênitas complexas e nas cardiomiopatias refratárias a terapêutica convencional. A investigação diagnóstica da etiologia das cardiopatias tem avançado na última década como, por exemplo, a sequência de exons. A assistência circulatória tem sido utilizada como ponte para transplante e no tratamento de rejeições agudas e crônicas. Do ponto de vista imunológico, a prova cruzada virtual no momento do transplante principalmente para os pacientes sensibilizados tem sido útil e fundamental. Novas drogas imunossupressoras como tacrolimo, sirolimo e rituximabe apresentam-se como promissoras na prevenção e tratamento da rejeição. O transplante com sitema ABO incompativel é uma possibilidade para recém-nascidos pela escassez de doadores.

Heart transplant in children has been an option in complex congenital heart disease and cardiomyopathies that do not respond to conventional treatment. The diagnostic investigatio nof the etiology of heart disease has advanced in the last decade, an example of this being exon sequencing. Circulatory support has been used as a bridge to transplantation, and in the treatment of acute and chronic rejections. From an immunological point of view,the virtual crossmatch test at the time of transplant, particularly for sensitized patients, has been useful and essential. New immunosuppressant drugs such as tacrolimus, sirolimusand rituximab have shown promise in the prevention and treatment of rejection. ABO--incompatible transplantation is a possibility for newborn infants, due to the lack of donos.

Post-cardiotomy ECMO in pediatric and congenital heart surgery: impact of team training and equipment in the results / ECMO pós-cardiotomia em cirurgia cardíaca pediátrica e congênita: impacto do treinamento da equipe e equipamentos nos resultados

AbstractIntroduction:Post-cardiotomy myocardial dysfunction requiring mechanical circulatory support occurs in about 0.5% of cases. In our environment, the use of extracorporeal membrane oxygenation has been increasing in recent years.Objective:To evaluate the impact of investment in professional training and improvement of equipment in the rate of weaning from extracorporeal membrane oxygenation and survival.Methods:A retrospective study. Fifty-six pediatric and/or congenital heart patients underwent post-cardiotomy extracorporeal membrane oxygenation at our institution between November 1999 and July 2014. We divided this period into two phases: phase I, 36 cases (before the structuring of the extracorporeal membrane oxygenation program) and phase II, 20 cases (after the extracorporeal membrane oxygenation program implementation) with investment in training and equipment). Were considered as primary outcomes: extracorporeal membrane oxygenation weaning and survival to hospital discharge. The results in both phases were compared using Chi-square test. To identify the impact of the different variables we used binary logistic regression analysis.Results:Groups were comparable. In phase I, 9 patients (25%) were weaned from extracorporeal membrane oxygenation, but only 2 (5.5%) were discharged. In phase II, extracorporeal membrane oxygenation was used in 20 patients, weaning was possible in 17 (85%), with 9 (45%) hospital discharges (P<0.01). When the impact of several variables on discharge and weaning of extracorporeal membrane oxygenation was analyzed, we observe that phase II was an independent predictor of better results (P<0.001) and need for left cavities drainage was associated with worse survival (P=0.045).Conclusion:The investment in professional training and improvement of equipment significantly increased extracorporeal membrane oxygenation results.

ResumoIntrodução:Falência ventricular pós-cardiotomia necessitando de suporte circulatório mecânico ocorre em cerca de 0,5% dos casos. Em nosso meio, o uso de ECMO tem aumentado nos últimos anos.Objetivo:Avaliar o impacto do investimento na formação profissional e melhoria dos equipamentos na taxa de desmame de ECMO e na sobrevida.Métodos:Estudo retrospectivo. Cinquenta e seis pacientes cardíacos pediátricos e/ou portadores de cardiopatias congênitas foram submetidos ao implante de ECMO pós-cardiotomia em nossa instituição entre novembro de 1999 e julho de 2014. Nós dividimos este período em duas fases: fase I, 36 casos (antes da estruturação do programa de ECMO) e fase II, 20 casos (após a instalação do programa ECMO com investimento em formação e equipamento). Foram considerados como desfechos primários: o desmame de ECMO e sobrevida até a alta hospitalar. Os resultados em ambas as fases foram comparados pelo teste Chi-quadrado. Para identificar o impacto das diferentes variáveis, ​ foi usada análise de regressão logística binária.Resultados:Na fase I, 9 pacientes (25%) foram desmamados da ECMO, mas apenas 2 (5,5%) tiveram alta. Na fase II, ECMO foi usado em 20 pacientes, o desmame foi possível em 17 deles (85%), com 9 (45%) altas hospitalares. Quando analisamos o impacto das diversas variáveis ​​sobre a sobrevida e desmame de ECMO, observa-se que a fase II foi um preditor independente de melhores resultados (P<0,001) e a necessidade de drenagem das cavidades esquerdas foi associada com pior sobrevida (P=0,045).Conclusão:O investimento na formação profissional e aperfeiçoamento de equipamentos melhorou significativamente os resultados de ECMO em nossa instituição.

Use of Short-term Circulatory Support as a Bridge in Pediatric Heart Transplantation / Emprego do Suporte Circulatório de Curta Duração como Ponte para Transplante Cardíaco Pediátrico

Background: Heart transplantation is considered the gold standard therapy for the advanced heart failure, but donor shortage, especially in pediatric patients, is the main limitation for this procedure, so most sick patients die while waiting for the procedure. Objective: To evaluate the use of short-term circulatory support as a bridge to transplantation in end-stage cardiomyopathy. Methods: Retrospective clinical study. Between January 2011 and December 2013, 40 patients with cardiomyopathy were admitted in our Pediatric Intensive Care Unit, with a mean age of 4.5 years. Twenty patients evolved during hospitalization with clinical deterioration and were classified as Intermacs 1 and 2. One patient died within 24 hours and 19 could be stabilized and were listed. They were divided into 2 groups: A, clinical support alone and B, implantation of short-term circulatory support as bridge to transplantation additionally to clinical therapy. Results: We used short-term mechanical circulatory support as a bridge to transplantation in 9. In group A (n=10), eight died waiting and 2 patients (20%) were transplanted, but none was discharged. In group B (n=9), 6 patients (66.7%) were transplanted and three were discharged.The mean support time was 21,8 days (6 to 984h). The mean transplant waiting list time was 33,8 days. Renal failure and sepsis were the main complication and causeof death in group A while neurologic complications were more prevalent en group B. Conclusion: Mechanical circulatory support increases survival on the pediatric heart transplantation waiting list in patients classified as Intermacs 1 and 2. .

Introdução: O transplante cardíaco é o tratamento de escolha na insuficiência cardíaca terminal, porém a escassez de doadores limita o seu emprego, especialmente na população pediátrica. O implante de dispositivos de assistência circulatória mecânica (ACM) pode aumentar o tempo de espera e contribuir na redução da mortalidade. Objetivo: Estudar a evolução dos pacientes pediátricos com diagnóstico de miocardiopatia, com indicação de transplante e que evoluíram em Intermacs1 ou 2, comparando a utilização ou não de algum tipo de ACM de curta duração. Método: No período de janeiro de 2011 a dezembro de 2013, 40 pacientes com idade média de 4,5 anos foram admitidos com diagnóstico de miocardiopatia dilatada. Desses pacientes, 20 evoluíram em Intermacs 1 ou 2. Um faleceu em menos de 24 horas e 19 foram listados para transplante. Os pacientes foram divididos em dois grupos: A, pacientes manejados clinicamente em espera para o transplante; B, pacientes que utilizaram algum tipo de ACM de curta duração durante o tempo de espera em lista. Resultados: No grupo A (n=10), oito pacientes evoluíram para óbito aguardando o transplante e dois pacientes (20%) foram transplantados, sendo que nenhum recebeu alta hospitalar. No grupo B (n = 9), seis pacientes (66,7%; p = 0,04) foram transplantados e três receberam alta hospitalar (p = 0,049). As principais complicações foram insuficiência renal e sepse, no grupo A, e complicações neurológicas no grupo B. Conclusão: O emprego de ACM de curta duração aumentou a sobrevida dos pacientes priorizados e em fila de espera de transplante cardíaco pediátrico. .

Use of short-term circulatory support as a bridge in pediatric heart transplantation.

BACKGROUND: Heart transplantation is considered the gold standard therapy for the advanced heart failure, but donor shortage, especially in pediatric patients, is the main limitation for this procedure, so most sick patients die while waiting for the procedure. OBJECTIVE: To evaluate the use of short-term circulatory support as a bridge to transplantation in end-stage cardiomyopathy. METHODS: Retrospective clinical study. Between January 2011 and December 2013, 40 patients with cardiomyopathy were admitted in our Pediatric Intensive Care Unit, with a mean age of 4.5 years. Twenty patients evolved during hospitalization with clinical deterioration and were classified as Intermacs 1 and 2. One patient died within 24 hours and 19 could be stabilized and were listed. They were divided into 2 groups: A, clinical support alone and B, implantation of short-term circulatory support as bridge to transplantation additionally to clinical therapy. RESULTS: We used short-term mechanical circulatory support as a bridge to transplantation in 9. In group A (n=10), eight died waiting and 2 patients (20%) were transplanted, but none was discharged. In group B (n=9), 6 patients (66.7%) were transplanted and three were discharged.The mean support time was 21,8 days (6 to 984 h). The mean transplant waiting list time was 33,8 days. Renal failure and sepsis were the main complication and cause of death in group A while neurologic complications were more prevalent en group B. CONCLUSION: Mechanical circulatory support increases survival on the pediatric heart transplantation waiting list in patients classified as Intermacs 1 and 2.

Post-cardiotomy ECMO in pediatric and congenital heart surgery: impact of team training and equipment in the results.

INTRODUCTION: Post-cardiotomy myocardial dysfunction requiring mechanical circulatory support occurs in about 0.5% of cases. In our environment, the use of extracorporeal membrane oxygenation has been increasing in recent years. OBJECTIVE: To evaluate the impact of investment in professional training and improvement of equipment in the rate of weaning from extracorporeal membrane oxygenation and survival. METHODS: A retrospective study. Fifty-six pediatric and/or congenital heart patients underwent post-cardiotomy extracorporeal membrane oxygenation at our institution between November 1999 and July 2014. We divided this period into two phases: phase I, 36 cases (before the structuring of the extracorporeal membrane oxygenation program) and phase II, 20 cases (after the extracorporeal membrane oxygenation program implementation) with investment in training and equipment). Were considered as primary outcomes: extracorporeal membrane oxygenation weaning and survival to hospital discharge. The results in both phases were compared using Chi-square test. To identify the impact of the different variables we used binary logistic regression analysis. RESULTS: Groups were comparable. In phase I, 9 patients (25%) were weaned from extracorporeal membrane oxygenation, but only 2 (5.5%) were discharged. In phase II, extracorporeal membrane oxygenation was used in 20 patients, weaning was possible in 17 (85%), with 9 (45%) hospital discharges (P<0.01). When the impact of several variables on discharge and weaning of extracorporeal membrane oxygenation was analyzed, we observe that phase II was an independent predictor of better results (P<0.001) and need for left cavities drainage was associated with worse survival (P=0.045). CONCLUSION: The investment in professional training and improvement of equipment significantly increased extracorporeal membrane oxygenation results.

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion / Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. .

Fundamento: Alertar para o diagnóstico da síndrome da deleção 22q11.2 (SD 22q11.2) em pacientes com cardiopatias congênitas. Objetivo: Descrever as principais cardiopatias, alterações fenotípicas, metabólicas e imunológicas em uma série de 60 pacientes com a SD22q11.2. Métodos: Foram incluídos 60 pacientes com SD22q11.2 avaliados entre 2007 e 2013 (M:F = 1,3; idades entre 14 dias a 20 anos e 3 meses) em um centro pediátrico de referência para imunodeficiências primárias. O diagnóstico foi feito pela detecção da microdeleção 22q11.2 através de FISH (n = 18) e/ou MLPA (n = 42), associados a dados clínicos e laboratoriais. Foram analisadas as cardiopatias, aspectos fenotípicos evolutivos da fácies, a hipocalcemia e alterações imunológicas associadas. Resultados: Cardiopatias congênitas ocorreram em 77% dos casos, sendo que a tetralogia de Fallot ocorreu em 38,3%. Correção cirúrgica da cardiopatia foi realizada em 34 pacientes. Os dismorfismos craniofaciais foram detectados em 41 pacientes: face (60%) e/ou nariz alongados (53,3%), fenda palpebral estreita (50%), orelhas displásicas com hiperdobramento (48,3%), lábios finos (41,6%), dedos alongados (38,3%) e baixa estatura (36,6%). Hipocalcemia foi observada em 64,2% com redução do nível de paratormônio (PTH) em 25,9%. Observou-se número reduzido de linfócitos totais, CD4 e CD8 em 40%, 53,3%, e 33,3%, respectivamente. Detectou-se hipogamaglobulinemia em um paciente e redução das concentrações de imunoglobulina M (IgM) em outros dois pacientes. Conclusão: Deve-se suspeitar da SD22q11.2 em todos os portadores de cardiopatia congênita com hipocalcemia e/ou dismorfismos faciais, ressaltando-se que muitas dessas alterações podem ser evolutivas. ...

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

Common challenge topics in pediatric transplantation.

This special issue is dedicated to the common challenge topics in pediatric transplantation. It contains 11 chapters, ranging from clinical research in pediatric transplantation to translational research (from bench to bedside). It includes comprehensive reviews from renowned scientists, clinicians and surgeons from five countries from the International Pediatric Transplantation Association (IPTA), Harvard University, the University of Miami and the University of São Paulo Medical School. The clinical management of specific issues, such as sensitized patients and ABO blood type-incompatible transplantation, is addressed. In addition, the challenges facing this patient population and the future perspectives for clinical research are discussed.

Clinical recommendations for postoperative care after heart transplantation in children: 21 years of a single-center experience.

Heart transplantation is an option for children with complex congenital heart disease and cardiomyopathies. A patient's quality of life and long-term survival depend on successful management of the surgical complications and adverse side effects of immunosuppression. The purpose of this review was to summarize the practical management of postoperative care in this patient population and to make recommendations for the future.