IDH, Recursos tecnológicos e humanos para diagnóstico e tratamento das malformações do aparelho circulatório no Brasil / HDI, Technological and human resources in the diagnosis and treatment of malformations of the circulatory system in Brazil

Resumo Fudamento Em 2015, foram diagnosticados 2.368 portadores de malformação congênita (MC) por 100.000 nascidos vivos (NV) no mundo, uma taxa de 7,6%, dos quais 10,6% morreram no primeiro ano de vida, sendo 43% por malformações do aparelho circulatório (MAC), à semelhança do que ocorre no Brasil. Objetivo Verificar a associação de diagnóstico de MAC ao nascimento e morte por MAC no primeiro ano de vida com índice de desenvolvimento humano (IDH) e recursos tecnológicos e humanos para o diagnóstico e tratamento da MAC por macrorregião do Brasil. Métodos Estudo ecológico de dados disponíveis de 2000 a 2015. Informações sobre NV, óbitos e ecocardiógrafos foram obtidas do DATASUS, o IDH, do Atlas de Desenvolvimento Humano no Brasil, e as demais foram obtidas da demografia médica. Foram realizadas medidas de correlação entre as variáveis utilizando o índice de Kendall. Resultados A taxa de MC foi 660,8/100.000 NV, das quais, 18.444 por MAC (taxa de diagnóstico 38,55/100.000 NV). As regiões Sul e Sudeste, com maiores valores de IDH e recursos, apresentaram as maiores taxas de diagnóstico de MAC (56,94/100.000 e 62,83/100.000 NV, respectivamente). As regiões Norte e Nordeste, com os menores valores de IDH e recursos, apresentaram as menores taxas de diagnóstico de MAC (9,77/100.000 e 13,43/100.000 NV, respectivamente). Essa taxa de diagnóstico foi 6,4 vezes maior no Sudeste do que no Norte, mas as taxas de mortalidade foram similares. Conclusão Das MC, as MAC apresentaram a maior mortalidade nos menores de 1 ano no Brasil.

Abstract Background In 2015, the number of infants with congenital malformations (CMs) per 100 000 live births (LBs) was 2368 (7.6%) worldwide, of whom 10.6% died in the first year of life, 43% due to malformations of the circulatory system (MCSs), a scenario similar to what occurs in Brazil. Objective To assess, per Brazilian macroregion, whether diagnosis of MCS at birth and death due to MCS in the first year of life associate with human development index (HDI) and with technological and human resources. Methods Ecological study including data available in 2000-2015. Data of LBs, deaths and availability of echocardiography devices were obtained from the DATASUS website. The HDI was obtained from the Atlas of Human Development in Brazil, while other variables were obtained from medical demographic data. Correlation measures between the variables were performed using the Kendall index. Results The CM rate was 660.8/100 000 LBs, of which 18 444 were due to MCS (diagnosis rate, 38.55/100 000 LBs). Of all Brazilian macroregions, the Southern and Southeastern regions, with the highest HDI values and resources, had the highest MCS diagnosis rates (56.94/100 000 and 62.83/100 000 LBs, respectively). The Northern and Northeastern regions, with the lowest HDI values and resources, had the lowest MCS diagnosis rates (9.77/100 000 and 13.43/100 000 LBs, respectively). The MCS diagnosis rate was 6.4-fold higher in the Southeastern region as compared to the Northern region, but mortality rates were similar in both regions. Conclusion Of the CMs, the MCS accounted for the highest number of deaths in children under the age of 1 year in Brazil.

Utilidad de la medición del timo fetal en el diagnóstico de anomalías congénitas y enfermedades obstétricas / Utility of fetal thymus measurement in the diagnosis of congenital anomalies and obstetric diseases

RESUMEN Introducción: el interés de la visualización sonográfica del timo fetal está relacionado con su importante función inmunológica, las posibilidades de diagnóstico que ofrecen los ecógrafos de alta resolución, y el incremento de informes de posibles afecciones durante el proceso de la gestación. Objetivo: determinar la frecuencia de la hipoplasia tímica fetal en gestantes de riesgo genético y relacionarla con la presencia de defectos fetales, factores de riesgo previos y aparición de efectos obstétricos adversos. Métodos: se realizó un estudio descriptivo prospectivo consistente en la evaluación ecográfica del timo fetal mediante el índice timo-tórax a 221 gestantes que acudieron a los servicios de referencia del Centro Provincial de Genética Médica, por presentar riesgo genético incrementado para cardiopatías. Resultados: se encontraron 16 fetos con un índice timo-tórax inferior o igual a 0,30, el cual se utilizó como criterio de hipoplasia tímica en este estudio, entre ellos: 4 con cardiopatías, 4 con cromosomopatías, 1 con malformación estructural aislada, 2 con preeclampsia, 1 con crecimiento intrauterino retardado, 1 pretérmino y una muerte fetal. Los motivos de referencia con mayor proporción de positividad fueron: la traslucencia nucal aumentada y la imagen de sospecha de cardiopatía congénita en ultrasonido de pesquisaje. Conclusiones: la determinación del índice timo-tórax permitió el diagnóstico de la hipoplasia tímica, tanto en el segundo como en el tercer trimestre de la gestación. Este tipo de investigación es relevante pues contribuye a identificar: defectos congénitos, factores de riesgo y efectos obstétricos adversos.

ABSTRACT Introduction: the interest in sonographic visualization of the fetal thymus is related to its important immunological function, the diagnostic possibilities offered by high-resolution ultrasound scanners, and the increased reporting of possible conditions during the gestation process. Objective: to determine the frequency of fetal thymic hypoplasia in pregnant women with genetic risks and to relate it to the presence of fetal defects, previous risk factors and the appearance of adverse obstetric effects. Methods: we conducted a prospective descriptive study consisting of the ultrasound evaluation of the fetal thymus by means of the thymic-thoracic ratio in 221 pregnant women who come to referral services of the Provincial Center of Medical Genetics, because they presented increased genetic risk for heart disease. Results: sixteen fetuses were found with a thymic-thoracic ratio less than or equal to 0.30, which was used as the criterion for thymic hypoplasia in this study: four with heart diseases, four with chromosomal diseases, one with isolated structural malformation, two with preeclampsia, one with delayed intrauterine growth, one preterm and one fetal death. The reference reasons with the highest proportion of positivity were: increased nuchal translucency and image of suspected congenital cardiopathy in screening ultrasound. Conclusions: determination of the thymic-thoracic ratio allowed us the diagnosis of thymic hypoplasia, both in the second and third trimester of pregnancy. This type of research is relevant because it helps to identify: congenital defects, risk factors and adverse obstetric effects.

Alteraciones cardíacas en el Síndrome de Down. Unidad de Genética Médica, Universidad de Los Andes, Mérida- Venezuela

El síndrome de Down es una entidad clínica-genética que se asocia frecuentemente con cardiopatías congénitas entre 40-60% y corresponde un aspecto importante en su evolución. Objetivo: Describir los diferentes tipos de alteraciones cardiacas presentes en los pacientes con síndrome de Down, evaluados en la Unidad de Genética Médica de la Universidad de Los Andes y compararla con estudios similares. Pacientes y métodos: Se realizó un estudio observacional y descriptivo desde enero de 2009 a diciembre de 2012 en 100 pacientes con síndrome de Down con estudio citogenético y de ecocardiografía. Resultados: Las cardiopatías congénitas se presentaron en 63% de los pacientes. La comunicación interventricular fue la lesión simple aislada más frecuente con 14 casos y la alteración cardiaca compleja aislada más frecuente fue el canal auriculoventricular completo en cuatro casos. Conclusiones: Las malformaciones cardíacas congénitas se presentan en una frecuencia importante en la población con síndrome de Down, los diversos tipos varían en diferentes etnias y en períodos diferentes en el mismo país. Se debe enfatizar la realización del diagnóstico precoz para evitar las complicaciones que se pueden exhibir de forma más rápida y graves en los individuos con esta entidad genética.

Down syndrome is a clinical-genetic entity that is often associated with congenital heart disease between 40-60% and has an important aspect in its evolution. Objective: Describe the different types of cardiac alterations present in patients with Down syndrome, evaluated at the Medical Genetics Unit of the University of Los Andes and compared with similar studies. Patients and methods: A descriptive and observational study was conducted from January 2009 to December 2012 with 100 patients with Down syndrome with cytogenetics study and echocardiography. Results: Congenital heart disease occurred in 63% of patients. The ventricular septal defect was the most frequent isolated single lesion with 14 cases and the complex cardiac dysfunction was the most frequent isolated complete atrioventricular canal in four cases. Conclusions: Congenital heart defects are present in a significant frequency in the population with Down syndrome, various types vary in different ethnic groups and in di erent periods in the same country. It should be emphasized the realization of early diagnosis to prevent complications that can be displayed in a more rapid and severe in individuals with this genetic entity.