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Original article

Newborns with congenital heart diseases:

epidemiological data from a single reference center
in Brazil

Karina Peres Silva1 malformations were categorized in four groups:

Luciane Alves Rocha1 complex lesions, significant lesions, minor le-
Ana Teresa Figueiredo Stochero Leslie2 sions and others.
Ruth Guinsburg2 Results: we detected postnatal incidence of CHD
Célia Maria Camelo Silva3 of 1.9% at our service. The mean maternal age
Luciano Marcondes Machado Nardozza1 was 28.3 years and 10 (21.3%) of the pregnant
Antonio Fernandes Moron1 women were ≥ 35 years old. The mean gestational
Edward Araujo Júnior1 age at the time of performing the fetal echocardio-
gram was 27.8 weeks. Mean gestational age at de-
livery was 38 weeks, and the mean weight of the
1 Fetal Cardiology Unit, Department of Obstetrics, newborns was 2,644.5 grams. Regarding the diag-
Federal University of São Paulo (UNIFESP), São nosis of CHD, there were: 23 complex lesions
Paulo-SP, Brazil (39%); 15 significant lesions (26%); 10 minor le-
2 Discipline of Neonatology, Department of Pedi- sions (17%); 4 other lesions (7%) and 6 normal
atrics, Federal University of São Paulo (UNIFESP), anatomies (10%). The diagnosis of CHD made on
São Paulo-SP, Brazil the fetus and postnatally coincided in 77.6% of
3 Discipline of Cardiology, Department of Clinics, São the cases. A total of 27 patients (60%) underwent
Paulo Federal University (UNIFESP), São Paulo- surgery, and the outcome was neonatal death in
SP, Brazil five cases.
Conclusion: we detected postnatal incidence of
CHD of 1.9%, and it was more common among
Corresponding author: older pregnant women and with late detection in
Edward Araujo Júnior, the intrauterine period. Complex heart diseases
Department of Obstetrics, Federal University of São predominated, thus making it difficult to have a
Paulo (UNIFESP) good result regarding neonatal mortality rates.
Rua Carlos Weber, 956, apto. 113 Visage
Alto da Lapa Key words: congenital heart diseases, prenatal diagnosis,
São Paulo - SP newborn, echocardiography.
Brazil
CEP 05303-000
Telephone / Fax: +55-11-37965944 Introduction
E-mail: [email protected]
Congenital heart diseases (CHDs) are the most com-
mon congenital fetal malformations and are responsi-
Summary ble for a high rate of child mortality and morbidity.
The prenatal incidence of CHD ranges from 2.4 to
Objective: to describe the epidemiological data of 52% (1-6). This huge variability is due to the policies
the population born with the diagnosis of Con- adopted in different countries. Detection of CHD is
genital Heart Disease (CHD); to compare diag- much greater in regions where it is mandatory to per-
noses made using fetal echocardiography with form at least one fetal echocardiogram during the
the findings from postnatal echocardiography or pregnancy (7). The postnatal incidence is around 0.3
anatomopathological examination of the heart; to 1.2% of live births (8, 9). This decrease between
and to evaluate mortality among newborns that the prenatal and postnatal rates can be explained by
underwent surgical treatment. the fact that many countries allow termination of
Methods: this was a cohort study with informa- pregnancy in cases of congenital malformation (7).
tion gathered from the medical records of the According to the Mortality Information System of the
pregnant women and their newborns diagnosed Brazilian Ministry of Health, the second greatest
with CHD during the fetal or postnatal periods, cause of early and late neonatal death in the south-
between January 2008 and December 2012. eastern region are congenital malformations, ac-
Means, standard deviations and maximum and counting for 18.6 and 21.1%, respectively (10). In the
minimum values were calculated for the quantita- light of this situation, the importance of early diagno-
tive variables. Relative and absolute values were sis of congenital malformations can be seen, espe-
calculated for the qualitative variables. The heart cially with regard to CHDs, which are the most com-

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K. Peres Silva et al.

mon congenital malformations (11). This early detec- sis, parity, gestational age at the time of birth, birth
tion enables appropriate family counseling, pro- weight and Apgar at the first and fifth minutes. The
grammed intrauterine intervention (when necessary) means, standard deviations and maximum and mini-
and planned delivery assisted by a specialized multi- mum values were calculated for these variables. The
disciplinary team (1, 11-13). qualitative variables evaluated were the indication to
In addition to an adequate screening program for CHDs produce a fetal echocardiogram, karyotype analysis,
during the fetal period, knowledge of the epidemiologi- presence of associated extracardiac malformations,
cal data of this population needs to be promoted within type of delivery, sex of the newborn, diagnosis of
a hospital structure, so as to draw up a plan of action CHD, newborns that underwent surgical treatment
that optimizes good results in the service. Thus, the ob- and neonatal death.
jective of the present study was to describe the epi- The CHDs were categorized in four major groups:
demiological data of the population born at our service complex lesions, significant lesions, minor lesions
with a diagnosis of CHD between January 2008 and and others, in accordance with the classifications of
December 2012. Moreover, we sought to compare the Hunter et al. (14) and Wren et al. (15) (Tab. 1). Rela-
diagnoses made using fetal echocardiography with the tive and absolute values were calculated to compare
findings from postnatal echocardiography or anato- the types of CHD found through pre and postnatal
mopathological examination of the heart (gold stan- echocardiography.
dard) and to evaluate mortality among the newborns
that underwent surgical treatment.
Results

Methods During the five-year period, 4,835 children were born

at our service, of which 94 were considered to have
This was a historical cohort study with information CHD during either the prenatal or the postnatal peri-
gathered from the medical records of pregnant od. This corresponded to a postnatal incidence of
women and their newborns diagnosed with CHD, dur- CHD of 1.9% in our service, ranging from 1.3% to
ing either the fetal or the postnatal period. This inves- 2.5% according to the year studied. From these new-
tigation was carried out by the Fetal Cardiology Sec- borns diagnosed with CHD, 46 (48.9%) were exclud-
tor of the Department of Obstetrics, in conjunction ed from the analysis due to flaws in recording the da-
with the Discipline of Neonatology of the Department ta relating to the diagnosis of CHD.
of Pediatrics, Federal University of São Paulo The mean maternal age was 28.3 years, and 10
(UNIFESP). The present study was approved by the (21.3%) of the pregnant women were ≥ 35 years of
Ethics Committee of UNIFESP. age. The mean gestational age at the time of produc-
The inclusion criteria were that the subjects should ing the fetal echocardiogram was 27.8 weeks. The
be fetuses and newborns diagnosed with CHD that means for the number of gestations, parity and abor-
were born at our service between January 2008 and tions were 2.4, 1 and 16, respectively. The indication
December 2012. The exclusion criteria were situa- for producing a fetal echocardiogram was because of
tions in which adequate data-gathering from the fetal maternal causes in 16 patients (33%), fetal causes in
or postnatal echocardiogram was impossible, and di- 29 patients (60%) and family causes in 3 patients
agnoses of persistent arterial canal. (6%). In 50% of the fetuses, there was a suspicion of
The quantitative variables evaluated were: maternal associated extracardiac malformation during the in-
age, gestational age at the time of fetus’ CHD diagno- trauterine period, although karyotype was only col-

Table 1. Classification system for congenital heart diseases used, according to the complexity of the heart anatom-
ical abnormalities.

Classification Congenital heart diseases

Complex Heterotaxy or atrial isomerism, atresia or severe hypoplasia of a valve or chamber (hypoplastic left
heart syndrome, pulmonary atresias, tricuspid atresias, aortic atresia, mitral atresia, Ebstein’s
anomaly), abnormalities of the valve inlet or outlet (complete atrioventricular septal defect, truncus
arteriosus, double inlet left or right ventricle, double outlet left or right ventricle congenitally
corrected transposition of the great arteries).
Significant Transposition of the great vessels, tetralogy of Fallot, large ventricular septal defect, coarctation of
the aorta, aortopulmonary window, critical aortic or pulmonary stenosis, partial atrioventricular
septal defect, total anomalous pulmonary venous connection, tricuspid valve dysplasia
(no Ebstein’s anomaly).
Minor Small ventricular septal defect, less severe aortic or pulmonary stenosis.
Others Dysrhythmias, cardiomyopathies, secondary dextrocardia/levocardia, pulmonary sequestration,
restrictive ductus arteriosus.
*This classification was adapted from Hunter et al. (14) and Wren et al. (15).

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Epidemiological data on congenital heart diseases

lected for nine patients. In only 31% of the cases de- pected cardiomegaly, one with restrictive ductus arte-
livery took place vaginally. The mean gestational age riosus, one with suspected coarctation of the aorta,
at birth was 38 weeks, the mean weight of the new- one with a small interventricular communication and
borns was 2,644.5 grams and the Apgar score at the one with persistent left vena cava drainage into the
first minute was 6 and at the fifth minute 8. Female coronary sinus. Only one newborn presented an al-
newborns represented 51.7% of our sample (Tab. 2). tered postnatal echocardiogram with a normal fetal
Regarding the diagnosis of CHD, taking either the echocardiogram. The diagnosis in this case was an
postnatal echocardiogram or the anatomopathologi- interventricular communication with no need for surgi-
cal examination as gold standards, there were 23 cal treatment (Tab. 3).
complex lesions (39%), 15 significant lesions (26%), The diagnosis of CHD made on the fetus and postna-
10 minor lesions (17%), 4 other lesions (7%) and 6 tally coincided in 77.6% of the cases, considering the
normal anatomies (10%) (Tab. 3). classification used in the present study. Among the
Six cases were considered to have normal hearts in patients diagnosed with CHD, 16 cases led to death
the neonatal period, but had been considered to be within the first year of follow-up, while 12 newborns
abnormal in the records from the fetal period. These survived. A total of 27 patients (60%) underwent
cases consisted of two fetuses diagnosed with sus- surgery, among whom five evolved to neonatal death,

Table 2. Characteristics of the population studied (n = 58 newborns).

Variables
Maternal age in years (mean / min-max) 28.3 (14 - 48)
≥ 35 years – N (%) 10 (21.3%)
Gestational age of the fetal echocardiogram in weeks (mean / min-max) 27.8 (20 - 34.5)
Gestational history (mean / min–max)
Gestation 2.4 (1 - 5)
Parity 1 (0 - 3)
Abortion 0.3 (0 - 3)
Indication for a fetal heart examination – N (%)
Maternal 16 (33%)
Fetal 29 (60%)
Family 3 (6.2%)
Presence of fetal malformation – N (%) 29 (50%)
Karyotype – N 9
Sex of the newborn
Female – N (%) 30 (51.7%)
Gestational age at birth (mean / min–max) 38 (32.8 - 41.4)
Type of birth
Normal – N (%) 18 (31%)
Birth weight in grams (mean / min-max) 2644.5 (1310 - 3700)
Apgar (mean / min-max)
1st minute 6.5 (1 - 9)
5th minute 8 (1 - 10)
SD – standard deviation, N – Absolute number, (%) – Relative number, min – minimum, max – maximum.

Table 3. Diagnosis of congenital heart diseases during the fetal and neonatal periods, classified according to
the degree of complexity of the clinical and/or surgical treatment.

Congenital heart disease Prenatal echocardiogram Postnatal echocardiogram

classified according to severity – N (%) (n = 58) (n = 58)
Complex heart disease 23 (39%) 23 (39%)
Significant heart disease 17 (29%) 15 (26%)
Minor heart disease 10 (17%) 10 (17%)
Other heart diseases 7 (12%) 4 (7%)
Normal anatomy 1 (2%) 6 (10%)
N – Absolute number, (%) – Relative number.

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K. Peres Silva et al.

and one of these was a case of early death, with a di- was in accordance with recommendations in the cur-
agnosis of critical pulmonary valve stenosis, which rent literature, thus demonstrating the extent to which
was classified as a significant lesion. fetal causes are associated with CHDs (3, 6, 22, 23).
The Figure 1 presents four cases of prenatal echo- There are still some difficulties in analyzing the kary-
cardiogram diagnosis of CHD: double outlet right ven- otype, probably because some pregnant women refuse
tricle, tetralogy of Fallot, atrioventricular septum de- to undergo sample collection for this examination, and
fect, and pulmonary stenosis. also because of financial difficulties, since the analysis
for this examination is only carried out in private labora-
tories, while the vast majority of our patients are of a
Discussion lower socioeconomic level.
The birth weight of the patients with CHD maintained
This retrospective study described the sample of a mean of more than 2,500 grams, with no relation-
CHD diagnoses at a tertiary-level service between ship with low birth weight due to the presence of
January 2008 and December 2012. Our aim was to CHDs, as reported in some studies. This was proba-
find information about the population of children with bility due to the fact that, in the present assessment,
CHDs diagnosed at this service so as to improve our patients diagnosed with persistent ductus arteriosus
structure for specialized treatment of these patients. were excluded (24).
The postnatal incidence of CHDs at the service was Among the diagnoses of CHD, 65% of the cases pre-
1.9%, i.e. slightly higher than the data from the world- sented complex and significant lesions. The explana-
wide literature, which ranges from 0.3 to 1.2%. This tion for this is that our service is at tertiary level,
corroborates the importance of better planning for which creates selection bias. This also reinforces the
early detection of these diseases and better-struc- idea that stronger fetal screening should be imple-
tured hospital support (8, 9). mented so that the multidisciplinary team that will fol-
Approximately 20% of the pregnant women who pre- low-up the pregnant woman and her newborn can be-
sented fetuses with CHD were more advanced in come better prepared. Among the fetal echocardio-
age, and this has been reported in several studies on grams performed, only one did not detect a heart ab-
CHDs (16-18). Also, we observed that although the normality that was considered to be a small lesions
fetal diagnosis of CHD should be made between the (small interventricular communication). Moreover, the
18 th and 24 th weeks, it is still performed at a later pre and postnatal diagnoses coincided in 77.6% of
stage of pregnancy, at approximately the 28th week the cases, respecting the classification used in the
(19-21). This is because these pregnant women are present study. This may demonstrate the efficiency of
referred late to primary services, thereby delaying the the fetal screening and diagnosis services. However,
diagnosis and, consequently, adequate specialized these numbers need to be improved, and performing
prenatal follow-up and delivery management by a this examination on the fetus earlier needs to be pro-
multidisciplinary team. moted (19-21).
Among the patients with an intrauterine diagnosis of The mortality rates are still high, even among those
CHD, 60% underwent echocardiography during the that underwent a surgical procedure. However, the
gestational period because of the fetal risk factor. This degree of complexity of the CHD at our service was

A B Figure 1. Prenatal echocardiogram

diagnosis of congenital heart dis-
eases: (a) Double outlet right ven-
tricle; (b) Tetralogy of Fallot; (c)
Atrioventricular septum defect; (d)
Pulmonary stenosis. RA: right atri-
um; LA: left atrium; RV: right ven-
tricle; LV: left ventricle; AV: atri-
oventricular septum; PA: pul-
monary artery; Ao: Aorta.

C D

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Epidemiological data on congenital heart diseases

very high, which makes it difficult to have a good 7. Garne E, Stoll C, Clementi M, Euroscan Group. Eval-
postnatal result in these cases. Nevertheless, a con- uation of prenatal diagnosis of congenital heart diseases
stant search for improvements in the organization of by ultrasound: experience from 20 European registries.
hospital services is always a positive predictive factor Ultrasound Obstet Gynecol. 2001; 17:386-391.
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ta from the medical records, especially with regard to 10. Secretaria de Vigilância em Saúde/MS. Mortalidade
pre and postnatal echocardiographic reports. At our infantil no Brasil: tendências, componentes e causas
service, we still use a paper-based reporting system, de morte no período de 2000 a 2010. http://portal-
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