Abstract
OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis. METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7. RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age. CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.
Highlights
Down Syndrome (DS) is characterized by a complete trisomy of chromosome 21 in 95% of cases, occurring in approximately one in every 700 live births[1,2]
Objetivo: Determinar a frequência e o perfil das cardiopatias congênitas em portadores de síndrome de Down atendidos em serviço de referência de cardiologia pediátrica, considerando-se a idade do encaminhamento, o sexo, o tipo de cardiopatia diagnosticada ao ecocardiograma transtorácico e sua associação com hipertensão pulmonar ao diagnóstico inicial
Métodos: Estudo de corte transversal com coleta retrospectiva de dados de 138 pacientes portadores de síndrome de Down de um total de 17.873 prontuários
Summary
Down Syndrome (DS) is characterized by a complete trisomy of chromosome 21 in 95% of cases, occurring in approximately one in every 700 live births[1,2]. This incidence may vary according to maternal age, affecting one in every 30 live births in mothers with age higher than 45 years[3]. Symptoms or signs of these heart diseases may be absent in the fisrt days, what leads to a late diagnosis This may be determining in the development of heart failure, penumonia, cardiac arrhythmias, or pulmonary hypertension
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