Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4%) were diagnosed with congenital heart disease, 201 (4.4%) with acquired heart disease, 52 (1.2%) with arrhythmias, and 2,268 (50%) were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.

Initial diagnostic errors in children suspected of having heart disease: prevalence and long-term consequences

OBJECTIVE: To access the incidence of diagnostic errors in the initial evaluation of children with cardiac murmurs. METHODS: We evaluated our 7-years of experience in a public pediatric cardiology outpatient clinic. Of 3692 patients who were sent to the hospital, 2603 presented with a heart murmur and were investigated. Patients for whom a disagreement existed between the initial and final diagnoses were divided into the following 2 groups: G1 (n=17) with an initial diagnosis of an innocent murmur and a final diagnosis of cardiopathy, and G2 (n=161) with an initial diagnosis of cardiopathy and a final diagnosis of a normal heart. RESULTS: In G1, the great majority of patients had cardiac defects with mild hemodynamic repercussions, such as small ventricular septal defect and mild pulmonary stenosis. In G2, the great majority of structural defects were interventricular communication, atrial septal defect and pulmonary valve stenosis. CONCLUSION: A global analysis demonstrated that diagnostic error in the initial evaluation of children with cardiac murmurs is real, reaching approximately 6% of cases. The majority of these misdiagnoses were in patients with an initial diagnosis of cardiopathy, which was not confirmed through later complementary examinations. Clinical cardiovascular examination is an excellent resource in the evaluation of children suspected of having cardiopathy. Immediate outpatient discharge of children with an initial diagnosis of an innocent heart murmur seems to be a suitable approach.

Noninvasive cardiac assessment in children of women with systemic lupus erythematosus

OBJECTIVE: Noninvasive cardiac assessment of newborns and infants of women with systemic lupus erythematosus. The children had no congenital total atrioventricular block and were compared with the children of healthy women. METHODS: We prospectively assessed 13 newborns and infants aged 1 to 60 days, children of women with systemic lupus erythematosus and without congenital total atrioventricular block. These children were compared with 30 children of women who had no lupus or anti-Ro/SSA antibodies, and no risk factors for congenital heart disease either. Their age groups matched. The following examinations were performed: cardiological physical examination, electrocardiography, echocardiography, and signal-averaged electrocardiography. RESULTS: The statistical analysis showed no significant difference in ventricular function or in the cardiac conduction system between the groups. CONCLUSION: In regard to the conduction system and ventricular function in the absence of total atrioventricular block, no statistically significant difference was observed between the children of women with systemic lupus erythematosus and children of healthy women.

Immune cell changes in swimmers : response to acute exercise and training

O treino competitivo envolve exercício intenso e prolongado, capaz de modular o número e actividade das células imunitárias. Quando demasiado exigente poderá induzir fadiga e aumentar a susceptibilidade a doenças. Esta dissertação apresenta três estudos desenvolvidos no âmbito da Imunologia do Exercício, considerando a análise da resposta celular imunitária sistémica aguda e crónica ao exercício aplicada em situações reais do treino competitivo de natação, controlando factores passíveis de influenciar esta resposta. Pretendeu-se avaliar a resposta imunitária a uma sessão de treino prolongada e intensa, durante as 24h de recuperação (Estudo 1) e a uma época de treino com sete meses (Estudo 2), e estudar a influência de um macrociclo de treino de quatro meses sobre a resposta imunitária à mesma sessão de treino e período de recuperação (Estudo 3), controlando sexo, fases do ciclo menstrual, maturidade, escalão, especialidade, performance, cargas de treino e sintomas respiratórios superiores (URS). A sessão de treino induziu a diminuição da vigilância imunitária adquirida imediatamente e, pelo menos nas 2h seguintes. Juvenis e seniores recuperaram totalmente 24h depois, mas não os juniores, reforçando a ideia da existência de uma janela aberta para a infecção após exercícios prolongados e intensos e sugerindo uma recuperação menos eficiente para os juniores. No período de treino mais intenso da época observou-se uma imunodepressão e maior prevalência de URS. No final da época, a imunidade inata diminuiu aparentando maior sensibilidade aos efeitos cumulativos da carga de treino, enquanto a imunidade adquirida parece ter recuperado após o taper. O macrociclo de treino atenuou a resposta imunitária à sessão de treino e aumentou o período de janela aberta às infecções (efeitos mais acentuados nos adolescentes). Os resultados evidenciam a importância de controlar alterações imunitárias durante a época competitiva, especialmente em períodos de treino intenso e quando se realizam sessões de treino intensas consecutivas com recuperações inferiores a 24h.

Electrophysiological Studies and Radiofrequency Ablations in Children and Adolescents with Arrhythmia

Background:Radiofrequency ablation is the standard non-pharmacological treatment for arrhythmias in pediatric patients. However, arrhythmias and their associated causes have particular features in this population.Objective:To analyze the epidemiological characteristics and findings of electrophysiological diagnostic studies and radiofrequency ablations in pediatric patients referred to the Electrophysiology Unit at Instituto de Cardiologia do Rio Grande do Sul, in order to characterize the particularities of this population.Methods:Cross-sectional study with 330 electrophysiological procedures performed in patients aged less than 20 years between June 1997 and August 2013.Results:In total, 330 procedures (9.6% of the overall procedures) were performed in patients aged less than 20 years (14.33 ± 3.25 years, age range 3 months to 19 years), 201 of which were males (60.9%). A total of 108 (32.7%) electrophysiological diagnostic studies were performed and of these, 48.1% showed abnormal findings. Overall, 219 radiofrequency ablations were performed (66.3%) with a success rate of 84.8%. The presence of an accessory pathway was the most prevalent finding, occurring in 158 cases (72.1%), followed by atrioventricular nodal reentrant tachycardia (16.8%), typical atrial flutter (3.1%) and extrasystoles originating from the right ventricular outflow tract (2.7%). Three patients developed complications during ablation (1.4%). Among congenital heart diseases, which occurred in 51 (15.4%) patients, atrial sept defect was the most frequent (27.4%), followed by ventricular sept defect (25.4%) and Ebstein's anomaly (17.6%).Conclusion:Electrophysiological study and radiofrequency ablation are effective tools for diagnosis and treatment of arrhythmias in the pediatric population.

Investigation of Copy Number Variation in Children with Conotruncal Heart Defects

Background:Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations.Objectives:Investigate gene copy number variation (CNV) in children with conotruncal heart defect.Methods:Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated.Results:Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents.Conclusions:Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

Metabolic Syndrome and Importance of Associated Variables in Children and Adolescents in Guabiruba - SC, Brazil

Background:The risk factors that characterize metabolic syndrome (MetS) may be present in childhood and adolescence, increasing the risk of cardiovascular disease in adulthood.Objective:Evaluate the prevalence of MetS and the importance of its associated variables, including insulin resistance (IR), in children and adolescents in the city of Guabiruba-SC, Brazil.Methods:Cross-sectional study with 1011 students (6–14 years, 52.4% girls, 58.5% children). Blood samples were collected for measurement of biochemical parameters by routine laboratory methods. IR was estimated by the HOMA-IR index, and weight, height, waist circumference and blood pressure were determined. Multivariate logistic regression models were used to examine the associations between risk variables and MetS.Results:The prevalence of MetS, IR, overweight and obesity in the cohort were 14%, 8.5%, 21% and 13%, respectively. Among students with MetS, 27% had IR, 33% were overweight, 45.5% were obese and 22% were eutrophic. IR was more common in overweight (48%) and obese (41%) students when compared with eutrophic individuals (11%; p = 0.034). The variables with greatest influence on the development of MetS were obesity (OR = 32.7), overweight (OR = 6.1), IR (OR = 4.4; p ≤ 0.0001 for all) and age (OR = 1.15; p = 0.014).Conclusion:There was a high prevalence of MetS in children and adolescents evaluated in this study. Students who were obese, overweight or insulin resistant had higher chances of developing the syndrome.

Functional Class in Children with Idiopathic Dilated Cardiomyopathy. A pilot Study

Abstract Background: Idiopathic dilated cardiomyopathy (IDCM), most common cardiac cause of pediatric deaths, mortality descriptor: a low left ventricular ejection fraction (LVEF) and low functional capacity (FC). FC is never self reported by children. Objective: The aims of this study were (i) To evaluate whether functional classifications according to the children, parents and medical staff were associated. (iv) To evaluate whether there was correlation between VO2 max and Weber's classification. Method: Prepubertal children with IDCM and HF (by previous IDCM and preserved LVEF) were selected, evaluated and compared. All children were assessed by testing, CPET and functional class classification. Results: Chi-square test showed association between a CFm and CFp (1, n = 31) = 20.6; p = 0.002. There was no significant association between CFp and CFc (1, n = 31) = 6.7; p = 0.4. CFm and CFc were not associated as well (1, n = 31) = 1.7; p = 0.8. Weber's classification was associated to CFm (1, n = 19) = 11.8; p = 0.003, to CFp (1, n = 19) = 20.4; p = 0.0001and CFc (1, n = 19) = 6.4; p = 0.04). Conclusion: Drawing were helpful for children's self NYHA classification, which were associated to Weber's stratification.

Mortality from Circulatory System Diseases and Malformations in Children in the State of Rio de Janeiro

Abstract Background: The epidemiological profile of mortality in a population is important for the institution of measures to improve health care and reduce mortality Objective: To estimate mortality rates and the proportional mortality from cardiovascular diseases and malformations of the circulatory system in children and adolescents. Methods: This is a descriptive study of mortality from cardiovascular diseases, malformations of the circulatory system, from all causes, ill-defined causes and external causes in children and adolescents in the state of Rio de Janeiro from 1996 to 2012. Populations were obtained from the Brazilian Institute of Geography and Statistics (Instituto Brasileiro de Geografia e Estatística - IBGE) and deaths obtained from the Department of Informatics of the Unified Health System (DATASUS)/Ministry of Health. Results: There were 115,728 deaths from all causes, 69,757 in males. The annual mortality from cardiovascular diseases was 2.7/100,000 in men and 2.6/100,000 in women. The annual mortality from malformations of the circulatory system was 7.5/100,000 in men and 6.6/100,000 in women. Among the specific causes of circulatory diseases, cardiomyopathies had the highest rates of annual proportional mortality, and from malformations of the circulatory system, it occurred due to unspecified malformations of the circulatory system, at all ages and in both genders. Conclusion: Mortality from malformations of the circulatory system was most striking in the first years of life, while cardiovascular diseases were more relevant in adolescents. Low access to prenatal diagnosis or at birth probably prevented the proper treatment of malformations of the circulatory system.

Morphological aspects of cell reabsorption in laying queens and workers of Apis mellifera (Hymenoptera, Apidae)

The occurrence of cell reabsorption in the ovaries of queens in several rates of laying eggs, artificially impeded of laying, and in nurse workers, of Apis mellifera (Linnaeus, 1758), was studied with light (LM) and transmission electron microscopy (TEM). Two types of structures were described and named by analogy with vertebrates ovarian structures, as corpus luteus, when resulting from the reabsorption of the follicular cells after ovulation, and corpus atresicus when resulting from total follicular reabsorption at any oocyte developmental stage. These structures have the same morphological characteristics and physiological signification in both castes. The corpus luteus occurrence indicates ovulation and its number is correspondent to the queen's rates of oviposition. The presence of this structure in nurse workers ovarioles shows that this caste may lay eggs. The incidence of corpus atresicus in queens decay with the increasing of the oviposition indicating that the inhibition of the normal sequence of oocyte maturation in the ovaries is deleterious. Both, corpus luteus and corpus atresicus incidence may be influenced by environmental factors.

Comparasion of polyacrylamide gel electrophoresis (PAGE), immuno-electron microscopy (IEM) and enzyme immunoassay (EIA) for the rapid diagnosis of rotavirus infection in children

Detection of rotavirus RNA by polyacrylamide gel electrophoresis (PAGE) proved to be a highly sensitive and rapid diagnostic test. A comparison of this assay with immuno-electron microscopy (IEM) and enzyme immunoassay (EIA) in 245 faeces from children with gastroenteritis revealed complete agreement between the three assays in 238 (97.14%) samples. Among 75 samples positive in at least one of the three assays, negative results were observed in 5 (6.48%) by PAGE, in 6 (6.76%) by EIA and in none by IEM. Silver staining greatly increased the sensitivity of the PAGE assay. We conclude that although IEM remains the most sensitive and rapid rotavirus diagnostic assay, the PAGE technique has many advantages in its favour, including the non-requirement of expensive equipment, the use of only chemically defined reagents and the capacity to distinguish virus subgroup and variants and to detect non-crossreactive rotaviruses which are missed in serological assays.

Lymph node cell responsiveness in BALB/C mice infected with Leishmania mexicana

In the present study we measured the blastogenic response of lymph node cells from BALB/c mice infected with Leishmania mexicana throughout the course of infection. Results showed that infected mice displayed normal blastogenic responses in the lymph nodes until twenty weeks of infection. Thereafter, there was a gradual suppression. Comparison of the immunoresponsiveness in the spleen and lymph nodes, revealed normal responses in the lymph nodes several weeks after suppression in the spleen had occurred. Suppression of blastogenic responses in the lymph nodes was related to an adherent macrophage-like cell which actively suppressed normal proliferative responses to mitogens.