Epidemiología y registro de las cardiopatías congénitas en Costa Rica / Epidemiology and registry of congenital heart disease in Costa Rica

OBJETIVO: Caracterizar la población de niños que nacen con cardiopatías congénitas (CC) en Costa Rica y evaluar sus procesos de registro. MÉTODOS: Estudio observacional exploratorio que incluyó a todos los niños con CC diagnosticadas en el Hospital Nacional de Niños entre el 1 de mayo de 2006 y el 1 de mayo de 2007. Tomando en cuenta los niños menores de 1 año y su respectiva cohorte de nacimientos, se estimaron prevalencias con intervalos de confianza de 95 por ciento (IC95 por ciento) según sexo, tipo de cardiopatía, edad al diagnóstico, edad materna, residencia habitual y malformaciones extracardiacas asociadas. Se compararon los datos con el Centro de Registro de Enfermedades Congénitas (CREC). RESULTADOS: Durante el período estudiado se diagnosticaron 534 casos con CC. Los casos en menores de 1 año fueron 473 dentro de una cohorte de nacimientos de 77 140 -prevalencia de 0,6 por ciento (IC95 por ciento: 0,5-0,7). Con base en datos del CREC, se demostró que al nacimiento no se detectan 71 por ciento de los casos. La edad promedio al diagnóstico en niños menores de 1 año fue de 46,6 días. No hubo diferencias por sexo. La prevalencia de CC en hijos de madres de 35 años o más fue significativamente mayor, aunque al excluir las cromosomopatías este riesgo perdió su significancia estadística. Las provincias del país con puertos marítimos fueron las de mayor riesgo en hijos de madres adolescentes. Las CC más frecuentes fueron los defectos del tabique interventricular e interauricular, persistencia del conducto arterioso, estenosis valvular pulmonar, defectos del tabique aurículo ventricular, coartación de aorta y tetralogía de Fallot. El 34 por ciento de las CC fueron múltiples, 11,2 por ciento se asociaron a cromosomopatías y 19 por ciento tenían malformaciones congénitas asociadas. CONCLUSIONES: La prevalencia de CC en Costa Rica está dentro del rango informado a nivel mundial. Se halló que en el CREC había un importante subregistro de CC debido principalmente a los criterios de edad aplicados. Los resultados sugieren que la edad materna (menores de 20 años y mayores de 34 años) es un factor asociado a la ocurrencia de CC.

OBJECTIVE: Characterize the population of children born with congenital heart disease (CHD) in Costa Rica and evaluate the country's registry processes. METHODS: Exploratory observational study that included all children with CHD diagnosed at the National Children's Hospital between 1 May 2006 and 1 May 2007. Considering children under 1 year of age and their respective birth cohort, prevalence was estimated by sex, type of heart disease, age at diagnosis, maternal age, habitual residence, and associated extracardiac malformations, with 95 percent confidence intervals (95 percent CI). The data was compared with those of the Congenital Disease Registry Center (CREC). RESULTS: During the period studied, 534 cases with CHD were diagnosed. There were 473 cases in children under 1 year of age in a birth cohort of 77 140 children. Prevalence was 0.6 percent (95 percent CI: 0.5-0.7). Based on CREC data, it was demonstrated that 71 percent of the cases were not detected at birth. The average age of diagnosis in infants under 1 year of age was 46.6 days. There were no differences by sex. Prevalence of CHD in children of mothers aged 35 years or over was significantly higher. However, when chromosomal abnormalities were excluded, the risk was no longer statistically significant. The provinces in the country with maritime ports were the areas with the highest risk in children of adolescent mothers. The most common CHDs were ventricular and atrial septal defects, patent ductus arteriosus, pulmonary valve stenosis, atrioventricular septal defects, coarctation of the aorta, and tetralogy of Fallot. Thirtyfour percent of the cases of CHD were multiple, 11.2 percent were associated with chromosomal abnormalities, and 19 percent had associated congenital malformations. CONCLUSIONS: CHD prevalence in Costa Rica is within the range reported globally. Significant underreporting of CHD was found in the CREC, primarily due to the age criteria applied. The results suggest that maternal age (under 20 and over 34) is a factor associated with CHD.

Prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS) / Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil

OBJETIVO: Determinar a prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS), descrevendo os tipos mais frequentes e avaliando os fatores associados. MÉTODOS: Estudo transversal que incluiu crianças portadoras de síndrome de Down nascidas e residentes em Pelotas no período de janeiro de 2000 a dezembro de 2005. Os dados foram obtidos através de entrevistas realizadas nos domicílios dos pacientes, com as mães ou seus familiares legais. Para o estudo dos fatores relacionados à presença de cardiopatia congênita, foram realizadas análises univariada e bivariada. RESULTADOS: Foram entrevistadas 47 mães de pacientes com síndrome de Down, sendo que 22 (46,8 por cento) pacientes apresentavam diagnóstico de cardiopatia congênita. Destes, 28 por cento receberam avaliação cardiológica precoce, antes dos 3 meses de vida. A cardiopatia mais frequente foi a comunicação interatrial (17 por cento); o defeito do septo atrioventricular ocorreu em cinco pacientes. A análise bivariada entre o desfecho presença de cardiopatia congênita e os fatores preditores idade materna, idade paterna, cor dos pais e da criança, presença de outras malformações e sexo da criança mostraram que as associações não foram estatisticamente significativas. CONCLUSÕES: As prevalências de síndrome de Down e de cardiopatia congênita em nossa região apresentam-se semelhantes às encontradas por outros autores, ressaltando-se a importância da suspeita diagnóstica e do encaminhamento precoce por parte dos pediatras para avaliação cardiológica. Destaca-se também o baixo número de pacientes que realizaram cariótipo. Além disso, o número de malformações associadas foi inferior ao encontrado por outros autores.

OBJECTIVE: To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors. METHODS: Cross-sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interviews with mothers or guardians. Univariate and bivariate analyses were carried out to analyze the factors related to congenital heart defect. RESULTS: Forty-seven mothers of patients with Down syndrome were interviewed. Twenty-two (46.8 percent) of the patients had a diagnosis of congenital heart defect. Of them, 28 percent had early cardiac evaluation before 3 months of life. The most frequent heart defect was interatrial communication (17 percent); atrioventricular septal defect affected five patients. Bivariate analysis between the outcome congenital heart defect and the predicting factors maternal age, paternal age, parents' and child's skin color, presence of other malformations and child's sex showed that the associations were not statistically significant. CONCLUSIONS: The prevalence of Down syndrome and congenital heart defects in our region is similar to the rates found by other authors; therefore, we highlight the importance of diagnostic suspicion and early referral by pediatricians to cardiac evaluation. Another relevant aspect is the small number of patients who underwent karyotype testing. In addition, the number of associated malformations was lower than that found by other authors.