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1.
Nat Commun ; 12(1): 510, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33479230

RESUMO

Accurate pathogenicity prediction of missense variants is critically important in genetic studies and clinical diagnosis. Previously published prediction methods have facilitated the interpretation of missense variants but have limited performance. Here, we describe MVP (Missense Variant Pathogenicity prediction), a new prediction method that uses deep residual network to leverage large training data sets and many correlated predictors. We train the model separately in genes that are intolerant of loss of function variants and the ones that are tolerant in order to take account of potentially different genetic effect size and mode of action. We compile cancer mutation hotspots and de novo variants from developmental disorders for benchmarking. Overall, MVP achieves better performance in prioritizing pathogenic missense variants than previous methods, especially in genes tolerant of loss of function variants. Finally, using MVP, we estimate that de novo coding variants contribute to 7.8% of isolated congenital heart disease, nearly doubling previous estimates.


Assuntos
Biologia Computacional/métodos , Aprendizado Profundo , Predisposição Genética para Doença/genética , Mutação de Sentido Incorreto , Neoplasias/genética , Algoritmos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Neoplasias/diagnóstico , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
2.
Heart Fail Clin ; 17(1): 157-165, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33220884

RESUMO

Over the past decade, cardiovascular magnetic resonance (CMR) has become a mainstream noninvasive imaging tool for assessment of adult and pediatric patients with congenital heart disease. It provides comprehensive anatomic and hemodynamic information that echocardiography and catheterization alone do not provide. Extracardiac anatomy can be delineated with high spatial resolution, intracardiac anatomy can be imaged in multiple planes, and functional assessment can be made accurately and with high reproducibility. In patients with heart failure, CMR provides not only reference standard evaluation of ventricular volumes and function but also information about the possible causes of dysfunction.


Assuntos
Cardiopatias Congênitas/diagnóstico , Insuficiência Cardíaca/diagnóstico , Imagem Cinética por Ressonância Magnética/métodos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/fisiopatologia , Insuficiência Cardíaca/etiologia , Humanos , Espectroscopia de Ressonância Magnética
4.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(5): 548-555, 2020 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-33210479

RESUMO

The electronic stethoscope combined with artificial intelligence (AI) technology has realized the digital acquisition of heart sounds and intelligent identification of congenital heart disease, which provides objective basis for heart sound auscultation and improves the accuracy of congenital heart disease diagnosis. At the present stage, the AI based cardiac auscultation technique mainly focuses on the research of AI algorithms, and the researchers have designed and summarized a variety of effective algorithms based on the characteristics of cardiac audio data, among which the mel-frequency cepstral coefficients (MFCC) is the most effective one, and widely used in the cardiac auscultation. However, the current cardiac sound analysis techniques are based on specific data sets, and have not been validated in clinic, so the performance of algorithms need to be further verified. The lack of heart sound data, especially the high-quality, standardized, publicly available heart sound database with disease labeling, further restricts the development of heart sound diagnostic analysis and its application in screening. Therefore, expert consensus is necessary in establishing an authoritative heart sound database and standardizing the heart sound auscultation screening process for congenital heart disease. This paper provides an overview of the research and application status of auscultation algorithm and hardware equipment based on AI in auscultation screening of congenital heart disease, and puts forward the problems to be solved in clinical application of AI auscultation screening technology.


Assuntos
Inteligência Artificial , Auscultação Cardíaca , Cardiopatias Congênitas , Programas de Rastreamento , Algoritmos , Auscultação Cardíaca/instrumentação , Auscultação Cardíaca/métodos , Auscultação Cardíaca/tendências , Cardiopatias Congênitas/diagnóstico , Humanos , Programas de Rastreamento/métodos
5.
Arch Cardiovasc Dis ; 113(10): 607-616, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33039325

RESUMO

BACKGROUND: Red blood cell distribution width (RDW) is a predictor of adverse outcomes in patients with heart disease. AIM: To establish predictors of high RDW values in patients with congenital heart disease (CHD), and their relationship with cardiovascular events. METHODS: Overall, 561 patients with stable CHD who attended a single outpatient clinic and a matched control population of 2128 patients were studied. Exclusion criteria were renal failure, anaemia, receiving iron therapy and cyanosis. Blood tests included glucose, creatinine, iron, apoferritin, liver enzymes and a complete blood count. C-reactive protein and N-terminal prohormone of B-type natriuretic peptide (NT-pro-BNP) concentrations were also measured in patients with CHD. Major adverse cardiac events (MACE) were defined as cardiovascular/total mortality, arterial thrombotic events, arrhythmias, major bleedings, pulmonary embolism or heart failure needing hospital admission. RESULTS: The median age in patients with CHD was 23 (17-36) years and the median follow-up time was 5.8 (3.2-8.7) years; 103 (4.8%) controls and 40 (7.1%) patients with CHD had an RDW>15% (P=0.032). During follow-up, MACE were reported in 48 patients. CHD of great complexity, cardiovascular risk factors, low haemoglobin concentration and high NT-pro-BNP concentration were risk factors for an RDW>15%. Kaplan-Meier analysis showed a significantly worse cardiovascular outcome in patients with CHD with an RDW>15% (P<0.001). The multivariable survival analysis determined that age, CHD of great complexity, high NT-pro-BNP concentration and an RDW>15% were independent predictive factors for MACE. CONCLUSION: RDW and NT-pro-BNP concentration are independent analytical predictors of MACE in patients with CHD.


Assuntos
Índices de Eritrócitos , Cardiopatias Congênitas/diagnóstico , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Adolescente , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Cardiopatias Congênitas/sangue , Cardiopatias Congênitas/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Adulto Jovem
6.
PLoS One ; 15(10): e0239476, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33017437

RESUMO

Congenital heart diseases (CHDs) are the most common congenital malformations. The objective of our study was to evaluate the prenatal screening accuracy of congenital heart disease (CHD) in Southern France and to evaluate the impact of a prenatal diagnosis on pregnancies outcomes and neonatal outcomes. We performed a bicentric, retrospective observational study in the southern region over 4 years was conducted between 1 January 2014 and 31 December 2017. All foetuses and children under one year of age with CHD monitored in the UTHs (University Teaching Hospitals) in Marseille and Nice were included. CHD cases were divided into 3 groups: group 1, those with no possible options for anatomical repair; group 2, those with anatomical repair possibilities but that may require neonatal cardiologic management; and group 3, those with anatomical repair possibilities that do not require an emergency neonatal procedure. Among the 249070 deliveries during the study period, 677 CHD cases were included in the study. The overall prenatal screening rate was 71.5%. The screening rates were 97.8%, 63.6%, and 65.9% for groups 1, 2 and 3, respectively. Among group 2 CHD cases, 80% of the transpositions of the great arteries, 56% of the aortic coarctations, and 20% of the total anomalous pulmonary venous returns were detected during the prenatal period. A genetic anomaly was found in 16% of CHD cases. The overall mortality rate was 11.3% with a higher death rate in cases of prenatal screening (17.2% versus 2.1%; p < 0.001). However, when focusing only on children who died of CHD, prenatal screening did not create an impact (56.6% versus 100%, p = 0,140). Our data showed that the prenatal screening rate of CHD appears satisfactory in Southern France. Nevertheless, it could be improved for some CHD. This study did not find any benefit in terms of mortality from prenatal screening for CHD.


Assuntos
Cardiopatias Congênitas/diagnóstico , Diagnóstico Pré-Natal/estatística & dados numéricos , Adulto , Feminino , França , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
7.
Pediatr Clin North Am ; 67(5): 903-921, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32888689

RESUMO

Pulmonary hypertension (PH), the syndrome of increased pressure in the pulmonary arteries, is associated with significant morbidity and mortality for affected children and is associated with a variety of potential underlying causes. Several pulmonary arterial hypertension-targeted therapies have become available to reduce pulmonary artery pressure and improve outcome, but there is still no cure for most patients. This review provides a description of select causes of PH encountered in pediatrics and an update on the most recent data pertaining to evaluation and management of children with PH. Available evidence for specific classes of PH-targeted therapies in pediatrics is discussed.


Assuntos
Diagnóstico por Imagem , Cardiopatias Congênitas/complicações , Hipertensão Arterial Pulmonar , Artéria Pulmonar/fisiopatologia , Pressão Propulsora Pulmonar/fisiologia , Criança , Cardiopatias Congênitas/diagnóstico , Humanos , Prognóstico , Hipertensão Arterial Pulmonar/diagnóstico , Hipertensão Arterial Pulmonar/etiologia , Hipertensão Arterial Pulmonar/fisiopatologia
10.
Heart Lung Circ ; 29(9): e217-e221, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32839114

RESUMO

At the time of writing (25 May 2020), there have been nearly 4.4 million infections and 300,000 deaths worldwide related to COVID-19, an infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Australia (currently 6,900 infections and 98 deaths) and New Zealand (1,500 infections and 21 deaths) have thus far been less affected than other regions. Risk factors for more severe disease include older age and pre-existing cardiovascular disease. The purposes of this document from the Paediatric and Congenital Council of the Cardiac Society of Australia and New Zealand (CSANZ) are to: 1) To review the mechanisms for cardiac involvement in COVID-19, specifically as they may impact patients with childhood and adult congenital heart disease (CHD); 2) To review the impact of SARS-CoV-2 infection in the paediatric population; 3) To review available data on the risks related to COVID-19 for childhood heart disease and adult CHD; 4) To provide guidance for childhood heart disease and adult CHD units in our Australasian region to re-organise services during the pandemic, so as to protect a highly specialised workforce and yet continue to provide an essential service; and 5) To review risk reduction strategies for acquiring COVID-19 for patients with childhood heart disease or adult CHD. Eleven (11) recommendations relevant to the care of children with heart disease and adults with CHD to mitigate the impact of COVID-19 are highlighted through the document.


Assuntos
Doenças Cardiovasculares/epidemiologia , Controle de Doenças Transmissíveis/organização & administração , Infecções por Coronavirus/prevenção & controle , Cardiopatias Congênitas/epidemiologia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Guias de Prática Clínica como Assunto/normas , Adulto , Fatores Etários , Austrália , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/terapia , Criança , Infecções por Coronavirus/epidemiologia , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/terapia , Humanos , Controle de Infecções/organização & administração , Masculino , Nova Zelândia , Pandemias/estatística & dados numéricos , Pneumonia Viral/epidemiologia , Prevalência , Medição de Risco , Fatores Sexuais , Sociedades Médicas , Análise de Sobrevida , Resultado do Tratamento
11.
PLoS One ; 15(7): e0230160, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32716943

RESUMO

The epidemiology of Congenital Heart Diseases (CHDs) has changed over the past twenty years. This study aimed to evaluate the prevalence of CHDs in the population of dogs recruited in a single referral center (RC); compare the epidemiological features of CHDs in screened breeds (Boxers) versus non-screened (French and English Bulldogs, German Shepherds); investigate the association of breeds with the prevalence of CHDs; determine the popularity and volatility of breeds over a 20-year period; analysed the trends of the most popular breeds in the overall population of new-born dogs registered in the Italian Kennel Club (IKC) from 1st January 1997 to 31st December 2017. The RC's cardiological database was analysed, and 1,779 clinical records were included in a retrospective observation study. Descriptive statistics and frequencies regarding the most representative breeds and CHDs were generated. A logistic regression model was used to analyse the trends of the most common CHDs found in single and in cluster of breeds. The relationship between breed popularity and presence of CHDs was studied. The most common CHDs were Pulmonic Stenosis, Patent Ductus Arteriosus, Subaortic Stenosis, Ventricular Septal Defect, Aortic Stenosis, Tricuspid Dysplasia, Atrial Septal Defect, Double Chamber Right Ventricle, Mitral Dysplasia, and others less frequent. The most represented pure breeds were Boxer, German Shepherd, French Bulldog, English Bulldog, Maltese, Newfoundland, Rottweiler, Golden Retriever, Chihuahua, and others in lower percentage. Chihuahuas, American Staffordshire Terriers, Border Collies, French Bulldogs, and Cavalier King Charles Spaniel were the most appreciated all of which showed a high value of volatility. This study found evidence for the value of the screening program implemented in Boxers; fashions and trends influence dog owners' choices more than the worries of health problems in a breed. Effective breeding programs are needed in order to control the diffusion of CHDs without impoverishing the genetic pool.


Assuntos
Doenças do Cão/epidemiologia , Cardiopatias Congênitas/epidemiologia , Animais , Cruzamento , Doenças do Cão/diagnóstico , Cães , Feminino , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/epidemiologia , Comunicação Interventricular/diagnóstico , Comunicação Interventricular/epidemiologia , Modelos Logísticos , Masculino , Razão de Chances , Prevalência , Estenose da Valva Pulmonar/diagnóstico , Estenose da Valva Pulmonar/epidemiologia , Estudos Retrospectivos
12.
J Interv Cardiol ; 2020: 4986815, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32607082

RESUMO

Methods and Results: We retrospectively reviewed 52 young infants, 41 of whom had CPS and 11 had PA/IVS, in a single center from June 2009 to October 2017. Patients were divided into three groups according to the type of catheter used to enter through the RVOT. The unique structure of the Simmons catheter allowed it to be maneuvered directly into the RVOT within a few minutes. Compared with the other two groups, the Simmons catheter group had a significantly shorter fluoroscopy time entering through the RVOT (P < 0.001) and a shorter total X-ray exposure time (P < 0.001). Furthermore, compared with the floating catheter group, the success rate of surgery was much higher in the Simmons catheter group (P < 0.001). Conclusions: The Simmons catheter is a safe and effective method to enter through the RVOT in infants with CPS or PA/IVS. Therefore, the Simmons catheter could be an alternative catheter when entering through the RVOT in young infants, especially neonates with low birth weight.


Assuntos
Valvuloplastia com Balão/instrumentação , Cateterismo Cardíaco/instrumentação , Cateteres Cardíacos , Cardiopatias Congênitas , Atresia Pulmonar , Valvuloplastia com Balão/métodos , Desenho de Equipamento , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Atresia Pulmonar/diagnóstico , Atresia Pulmonar/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
16.
Pediatrics ; 146(1)2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32499387

RESUMO

Seven years after its addition to the US Recommended Uniform Screening Panel, newborn screening for critical congenital heart disease (CCHD) using pulse oximetry became mandatory in the United States. Although CCHD newborn screening reduces morbidity and mortality, there remain important opportunities to improve. An expert panel convened for a 1-day meeting in September 2018, including subject matter experts and representatives from stakeholder organizations. Presentations on CCHD outcomes, variations in approach to screening, and data and quality improvement helped identify improvement opportunities. The expert panel concluded that sufficient evidence exists to recommend modifying the current American Academy of Pediatrics algorithm by (1) requiring an oxygen saturation of at least 95% in both (formerly either) the upper and lower extremities to pass and (2) requiring only 1 repeat screen instead of 2 for cases that neither pass nor fail initially. The panel underscored the importance of improving public health reporting by further specifying the targets of screening and criteria for reporting outcomes (false-negative and false-positive cases). The panel also highlighted the need to ensure sufficient public health funding for CCHD newborn screening and opportunities for education and global implementation. Newborn screening for CCHD using pulse oximetry has led to significant improvements in child health outcomes. However, further important work is required to understand and improve the effectiveness and efficiency of screening.


Assuntos
Algoritmos , Estado Terminal , Cardiopatias Congênitas/diagnóstico , Triagem Neonatal/métodos , Oximetria/normas , Melhoria de Qualidade , Humanos , Recém-Nascido
17.
J Cardiovasc Med (Hagerstown) ; 21(7): 467-471, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32487868

RESUMO

: The recent outbreak of 2019 severe acute respiratory syndrome coronavirus-2 is having major repercussions on healthcare services provision in Italy and worldwide. Data suggest the virus has a strong impact on the cardiovascular system, and cardiac imaging will play an important role in patients affected by coronavirus disease-2019. Although paediatric patients are mildly affected, they represent a clear accelerator in spreading the virus, and healthcare workers are at higher risk of infection. The aim of this position paper is to provide clinical recommendation regarding the execution of imaging investigations for the cardiac diagnostic work-up of paediatric patients with suspected or confirmed infection.


Assuntos
Técnicas de Imagem Cardíaca/métodos , Cardiologia , Infecções por Coronavirus , Cardiopatias Congênitas , Exposição Ocupacional/prevenção & controle , Pandemias , Pediatria , Pneumonia Viral , Betacoronavirus/isolamento & purificação , Cardiologia/métodos , Cardiologia/normas , Criança , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Transmissão de Doença Infecciosa/prevenção & controle , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Humanos , Controle de Infecções/métodos , Controle de Infecções/organização & administração , Itália/epidemiologia , Pandemias/prevenção & controle , Pediatria/métodos , Pediatria/normas , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Sociedades Médicas
18.
Arq Bras Cardiol ; 114(5): 786-792, 2020 06 01.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32491070

RESUMO

BACKGROUND: Knowledge about the disease itself can be important for self-care in patients with several problems and comprehends information about the diagnosis up to the most important clinical implications. OBJECTIVE: To identify the level of knowledge of children and adolescents with congenital heart disease (CHD) about their illness, and to analyze the association between the level of knowledge and the practice of physical activity. METHODS: Cross-sectional study with 335 patients with CHD, aged 8 to 13 years, followed at a referral pediatric cardiology service in Southern Brazil. Patients were interviewed regarding their knowledge about CHD and a review of medical records was performed to obtain details on heart disease and procedures. A significance level p<0.05 was used. RESULTS: More than 50% of the children and adolescents did not know how to say the name of their disease or explain it. After adjusted OR (AOR), cyanotic patients in comparison to acyanotic ones (AOR: 2.29; 95%CI: 1.76-6.71; p = 0.019); children with lower level of schooling (AOR: 2.20; 95%CI: 1.81-5.86; p = 0.025); and those who did not practice physical activity (AOR: 1.88; 95%CI: 1.09-3.45; p = 0.011) showed potential for incorrect answers or did not know their disease. CONCLUSION: Cyanotic children and adolescents, with a lower level of schooling and who did not practice physical activity, had little knowledge about their disease. It is necessary to develop educational intervention strategies to increase knowledge and change behavior in physical activity promotion, according to the CHD complexity. (Arq Bras Cardiol. 2020; 114(5):786-792).


Assuntos
Exercício Físico/fisiologia , Conhecimentos, Atitudes e Prática em Saúde , Cardiopatias Congênitas/epidemiologia , Adolescente , Brasil/epidemiologia , Criança , Estudos Transversais , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Masculino
19.
Cardiol Young ; 30(9): 1288-1296, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32576329

RESUMO

INTRODUCTION: In this report, we aim to present our algorithm and results of patients with congenital cardiac disorders who underwent surgical or interventional procedures during the peak phase of the pandemics in our country. PATIENTS AND METHODS: The first COVID-19 case was diagnosed in Turkey on 11 March, 2020, and the peak phase seemed to end by the end of April. All the patients whom were referred, treated, or previously operated but still at the hospital during the peak phase of COVID-19 pandemics in the country were included into this retrospective study. Patient's diagnosis, interventions, adverse events, and early post-procedural courses were studied. RESULTS: Thirty-one patients with various diagnoses of congenital cardiovascular disorders were retrospectively reviewed. Ages of the patients ranged between 2 days and 16 years. Seventeen cases were males and 14 cases were females. Elective cases were postponed. Priority was given to interventional procedures, and five cases were treated percutaneously. Palliative procedures were preferred in patients whom presumably would require long hospital stay. Corrective procedures were not hesitated in prioritised stable patients. Mortality occurred in one patient. Eight patients out of 151 ICU admissions were diagnosed with COVID-19, and they were transferred to COVID-19 ICU immediately. Three nurses whom also took care of the paediatric cases became infected with SARS-CoV-2; however, the children did not catch the disease. CONCLUSION: Mandatory and emergent congenital cardiac percutaneous and surgical procedures may be performed with similar postoperative risks as there are no pandemics with meticulous care and preventive measures.


Assuntos
Procedimentos Cirúrgicos Cardiovasculares , Infecções por Coronavirus , Cardiopatias Congênitas , Controle de Infecções/organização & administração , Pandemias , Pneumonia Viral , Complicações Pós-Operatórias , Adolescente , Procedimentos Cirúrgicos Cardiovasculares/efeitos adversos , Procedimentos Cirúrgicos Cardiovasculares/métodos , Procedimentos Cirúrgicos Cardiovasculares/estatística & dados numéricos , Pré-Escolar , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/cirurgia , Humanos , Recém-Nascido , Masculino , Avaliação de Processos e Resultados em Cuidados de Saúde , Pandemias/prevenção & controle , Seleção de Pacientes , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Turquia/epidemiologia
20.
Arch. argent. pediatr ; 118(3): 166-172, jun. 2020. ilus, tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1102720

RESUMO

Introducción. En las últimas décadas, el desarrollo de métodos diagnósticos, técnicas quirúrgicas y cuidados intensivos, aumentó la sobrevida de los niños con cardiopatía congénita. En este contexto, las secuelas a largo plazo adquirieron mayor relevancia. La calidad de vida relacionada con la salud mide el impacto de las enfermedades crónicas. Nuestro objetivo fue describir la calidad de vida relacionada con la salud en pacientes con cardiopatía congénita operados durante el primer año de vida.Población y métodos. Estudio observacional, transversal, realizado entre agosto de 2017 y diciembre de 2018 en un hospital general universitario. Se utilizó el cuestionario PedsQL 4.0, versión genérica. Se incluyeron pacientes de entre 2 y 4 años con cardiopatía congénita operados durante el primer año de vida y niños sanos. Se compararon los resultados con T-Test o Wilcoxon según la distribución observada. Se consideró significativo el valor de p < 0,05.Resultados. Se incluyeron 31 pacientes. El 26 % tenían ventrículo único. La primera cirugía fue, en un 61,3 %, en el período neonatal. No hubo diferencia (p = 0,10) entre la calidad de vida relacionada con la salud global de la población con cardiopatía congénita y de los niños sanos. Sin embargo, se observaron puntajes más bajos con diferencia estadísticamente significativa en las esferas social (p = 0,0092) y escolar (p = 0,0001).Conclusiones. Nuestra cohorte de niños con cardiopatía congénita tiene una calidad de vida global comparable con la de los niños sanos, excepto en las escalas correspondientes a funcionamiento social y escolar.


Introduction. Advances in diagnostic methods, surgical techniques and postoperative intensive care have significantly increased the survival rates for children with congenital heart disease.In this context, long term sequelae acquired greater relevance. Health-related quality of life (HRQOL) is a concept that helps to measure the impact of chronic diseases.The purpose of the current study was to describe HRQOL in children with congenital heart disease that undergo cardiac surgery during their first year of life.Methods. A cross-sectional observational study was conducted between August 2017 and December 2018 at a University General Hospital. PedsQL 4.0 Generic Core Scales were used.Children with congenital heart disease between 2 and 4 years old who had cardiac surgery during their first year of life and healthy children were included.Scores were compared with T-test or Wilcoxon according to the observed distribution. p value < 0.05 was considered significant.Results. A total of 31 children with congenital heart disease (26 % with a single ventricle) and 62 healthy children were enrolled. The first surgery was in the neonatal period in 61.3 %.Our study showed no statistical differences (p = 0.10) between HRQOL Total Scale Score of children with congenital heart disease compared to healthy children. However, lower scores were observed with statistically significant differences in social (p = 0.0092) and school (p = 0.0001) scales.Conclusions. Our cohort of children diagnosed with congenital heart disease has a global quality of life comparable with healthy children except in social and school functioning scales.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Qualidade de Vida , Cardiopatias Congênitas/cirurgia , Doença Crônica , Estudos Transversais , Inquéritos e Questionários , Cardiopatias Congênitas/diagnóstico , Procedimentos Cirúrgicos Cardíacos
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