Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29.770 recém-nascidos

Abstract

Objective: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. Methods:A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearson's chi-square test and multinomial logistic regression.Results: During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2% of LB cases and 18.7% of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4% of LB cases and 48.0% of SB cases; and in 23.1% of the LB cases and 32.0% of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight ≤ 2,500 g in all types of clinical presentation, between maternal age ≥ 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. Conclusions:It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight ≤ 2,500 g and all forms of presentation, between increased maternal age and syndromic heart disease besides between female sex and isolated congenital heart disease.J Pediatr (Rio J). 2008;84(1):83-90: Congenital heart disease, prevalence, abnormalities, etiology.

Chromosomal Abnormalities in Patients with Congenital Heart Disease

“…The frequency of chromosomal abnormalities identified through karyotyping in our study (16.8%) was similar to that found in the studies of Ferencz et al 11 , Pradat 13 , Harris et al 19 and Amorim et al 20 , who found rates of 12.9-23.1%. Significant differences were observed in relation to the work of Stoll et al 12 , Hanna et al 14 , Goodship et al 15 , Grech and Gatt 3 , Meberg et al 16 , Roodpeyma et al 6 , Bosi et al 17 , Calzolari et al 18 Dadvand et al 21 and Hartman et al 22 , who found rates of 3-12.1% (p < 0.05).…”

“…Although our study was the only one that had the syndromic classification description made by a clinical geneticist, based only on the dysmorphologic physical examination findings of patients, our frequency of syndromic patients (29.5%) was similar to that reported by Calzolari et al 18 and Amorim et al 20 . Unlike ours, in these studies the patients were retrospectively divided into syndromic or not after the karyotype evaluation results and the presence of abnormalities in other organs.…”

“…The vast majority of similar studies were developed in the United States and Europe. Only one (by Amorim et al 20 was carried out in Latin America and Brazil. However, it is noteworthy that, unlike us, most studies (including the one by Amorim et al 20 ) were performed retrospectively, based mainly on databases.…”

“…Only one (by Amorim et al 20 was carried out in Latin America and Brazil. However, it is noteworthy that, unlike us, most studies (including the one by Amorim et al 20 ) were performed retrospectively, based mainly on databases. Due to this fact, the karyotype was not performed in a standardized way in many studies (the testing often appeared to be limited primarily to the cases with suspected chromosomal abnormality) 12,18 .…”

“…However, these studies are mostly retrospective and based on databases 3,6,11-22 . Moreover, it is noteworthy the virtual lack of studies carried out in Latin America 20 .…”