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.

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.

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.

Intervention précoce dans la phase initiale des troubles psychotiques à Lausanne: quels problèmes et quelles solutions [Early intervention for the initial phase of psychotic disorders in Lausanne: what problems and what solutions?]

Schizophrenia has long been considered with pessimism, but the recent interest in the early phase of psychotic disorders has modified this often unjustified perception. Literature has demonstrated the benefit of the development of programs specialised in the treatment of early psychosis, which tend to be developed in many countries. It is however important to match them to local needs as well as to the structure of local health services. This paper reviews elements that justify such a development in Lausanne, Switzerland, and describe its various elements.

Extra-osseous involvement of Langerhans' cell histiocytosis in children.

The predominant clinical and radiological features of Langerhans' cell histiocytosis (LCH) in children are due to osseous involvement. Extra-osseous disease is far less common, occurring in association with bone disease or in isolation; nearly all anatomical sites may be affected and in very various combinations. The following article is based on a multicentre review of 31 children with extra-osseous LCH. The objective is to summarise the diverse possibilities of organ involvement. The radiological manifestations using different imaging modalities are rarely pathognomonic on their own. Nevertheless, familiarity with the imaging findings, especially in children with systemic disease, may be essential for early diagnosis.

Elevated blood pressure prevalence in children did not follow the increase in overweight: results from a school-based study in a rapidly developing country, 1998-2006

Background: Blood pressure (BP) is strongly associated with body weight and there is concern that the pediatric overweight epidemic could lead to an increase in children's mean BP. Objectives: We analyzed BP trends from 1998 to 2006 among children of the Seychelles, a rapidly developing middle-income country in Africa. Methods: Serial school-based surveys of weight, height and BP were conducted yearly between 1998-2006 among all students of the country in four school grades (kindergarten, 4th, 7th and 10th years of compulsory school). We used the CDC criteria to define "overweight" (BMI _95th sex-, and age-specific percentile) and the NHBPEP criteria for "elevated BP" (BP _95th sex-, age-, and height specific percentile). Methods for height, weight, and BP measurements were identical over the study period. The trends in mean BMI and mean systolic/diastolic BP were assessed with linear regression. Results: 27,703 children aged 4-18 years (participation rate: 79%) contributed 43,927 observations on weight, height, and BP. The prevalence of overweight increased from 5.1% in 1998-2000 to 8.1% in 2004-2006 among boys, and from 6.1% to 9.1% among girls, respectively. The prevalence of elevated BP was 8.4% in 1998-2000 and 6.9% in 2004-2006 among boys; 9.8% and 7.8% among girls, respectively. Over the 9-years study period, age-adjusted body mass index (BMI) increased by 0.078 kg/m2/year in boys and by 0.083 kg/m2/year in girls (both sexes, P_0.001). Age- and height-adjusted systolic BP decreased by -0.37 mmHg/year in boys and by -0.34 mmHg/year in girls (both sexes, P_0.001). Diastolic BP did not change in boys (-0.02 mmHg/year, P: 0.40) and slightly increased in girls (0.07 mmHg/year, P: 0.003). These trend estimates were altered modestly upon further adjustment for BMI or if analyses were based on median rather than mean values. Conclusion: Although body weight increased markedly between 1998 and 2006 in this population, systolic BP decreased and diastolic BP changed only marginally. This suggests that population increases in body weight are not necessarily associated with corresponding rises in BP in children.

Immunological abnormalities of acquired immunodeficiency syndrome and related disorders in patients from Rio de Janeiro, Brazil

The immunoloical profile of acquired immunodeficiency syndrome (AIDS) and chronic lymphadenopathy syndrome (CLAS) in 15 and 11 Brazilian patients, respectively, was studied. The AIDS patients showed reduced percentage of total T (CD3) and T-helper-inducer (CD4) lymphocytes, relative increase in numbers of T-suppressor-cytotoxic (CD8) cells and a marked inversion of T-helper-inducer/suppressor-cytotoxic (CD4/CD8) ratio. Lymphoproliferative responses to PHA, ConA, PPD and PWM were diminished. Hypergamaglobulinemia and high levels of circulating immune complexes were also found. The CLAS patients also showed important immunological alterations, but not so intense as those with AIDS. These data seems to be similar to those observed in other parts of the world.

Troubles de l'humeur et VIH: épidémiologie, clinique et prise en charge thérapeutique [Mood disorders in HIV patients: a challenge for liaison psychiatry consultation].

Mood disorders represent the most prevalent psychiatric condition in patients infected by HIV virus. Screening and treatment of depression as well as the evaluation of the risk suicide is of the utmost importance. When psychopharmacological treatment is required, interaction with antiretroviral treatment must be carefully considered. More generally a close collaboration between the physician and the psychiatrist is recommended.