Risk factors in congenital heart disease

Abstract

Risk factors were studied in 801 children with congenital heart disease (CHD) coming from 105,374 consecutive births of known outcome. The incidence of CHD was 7.60%. Diagnosis was performed in 66.5% of the cases during the perinatal period. Two-hundred-fifty seven of the cases also had at least one non-cardiac malformation (multiply malformed). Ninety-two cardiac infants (11.47%) had recognized chromosomal and non-chromosomal syndromes. The most frequent noncardiac malformations were renal, digestive and limb anomalies. For each case a control was studied. The following features were screened: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for the risk factors. Weight, length and head circumference at birth of cardiac infants were less than those of controls. The weight of placenta was also lower than in controls. The pregnancy with CHD was more often complicated by hydramnios and threatened abortions, except in infants with isolated CHD. Oliogoamnios was more frequent in pregnancies producing multiply malformed infants and those with recognized syndromes with CHD. One out of four children with CHD had an extracardiac malformation, which is ten times the rate of incidence of malformation in our population. The incidence of CHD in first degree relatives of these infants was 3.0%. These first degree relatives also had more non-cardiac malformations than did those of the controls.

Congenital Heart Defects and Indices of Fetal Cerebral Growth in a Nationwide Cohort of 924 422 Liveborn Infants

“…37 A number of studies have assessed the association between CHD and measures of prenatal cerebral growth including fetal MRI studies, 7 prenatal ultrasound measurements, 13 and head circumference at birth. 15 With few exceptions, 19,38 all studies found an association between CHD and smaller measures of prenatal cerebral growth. Because of small sample sizes some studies were forced to treat CHD as a single entity 7 or applied less well-defined subgroups.…”

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

“…The frequency of chromosomal abnormalities reported in subsets of patients from other studies ranged from 2.6 to 12.5% (usually around 9%) 7,8,[18][19][20][21][22][23]25,26,29,30 . Our study detected the highest rate (14.6%) and was the only one to perform karyotype analysis in all patients and to specifically assess this approach.…”

“…The urinary tract malformations were also prevalent in the study of Bosi et al 22 , Stephensen et al 25 , Amorim et al 28 and Gonzalez et al 9 . Genitourinary tract abnormalities were found from 7.4 to 15.1% of patients with CHD in different series 18,20,24,26 and in 15.2% of live births and in 25.3% of stillbirths in the study of Amorim et al 28 . Kramer et al 19 , using postangiography urography, found 8.9% of upper urinary tract abnormalities in 302 patients with CHD.…”

“…In a literature review, only two publications in English language were found with similar goal to our study, that was to evaluate presence of abdominal malformations in patients with CHD through AUS 9,10 . In contrast, our study is unique in that all CHD patients underwent AUS, high resolution karyotype and FISH for detection of microdeletion 22q11.2, and all were examined by a clinical geneticist 7,[8][9][10][18][19][20][21][22][23][24][25][26][27][28][29][30] .…”

“…It demonstrates the importance of physical examination, by an expert such as a clinical geneticist, on the suspicion of occurrence of malformations in other organs or systems. In our literature review, we did not find reports classifying patients into syndromic or not by dysmorphological physical examination 7,[8][9][10][18][19][20][21][22][23][24][25][26][27][28][29][30] . Kramer et al 19 pointed that the recognition of minor malformations may serve as indicator of general problems in morphogenesis and may constitute valuable clue in the diagnosis of specific patterns of malformations.…”