Open Journal of Pediatrics, 2012, 2, 219-227 OJPed Published Online September 2012 (
Congenital heart defects through 30 years*
Alf Meberg
Department of Paediatrics, Vestfold Hospital Trust, Tønsberg, Norway
Received 21 April 2012; revised 22 May 2012; accepted 29 May 2012
Aim: To assess basic trends in epidemiology of con-
genital heart defects (CHDs). Method: Population
based prospective observational study. Material:
CHDs in infants born alive in a Norwegian county
1982-2011. Results: In 828/71 217 infants (12 per 1000)
a CHD was diagnosed. The prevalence increased
from 8 to 12 per 1000 after introduction of early
echocardiography in newborns with suspected CHD
from 1986 (p = 0.0001). Ventricular septal defect
(VSD) was the dominating CHD (474; 57%). In 222
(27%) the CHDs were missed and diagnosed after
discharge from hospital after birth. Twelve critical
CHDs (causing death or requiring invasive proce-
dures before 28 days of life) were missed. Prenatal
diagnosis of critical CHDs increased from 4/67 (6%)
born 1997-2006 to 4/11 (36%) born 2007-11 (p = 0.01).
In 177 (21%) a syndrome or extracardial defect oc-
curred. The occurrence of CHDs associated with
chromosomal disorders (60/73 (82%) trisomies) more
than doubled from the cohort born in the first
10-year period 1982-91 (0.6 per 1000) to the last
2002-11 (1.4 per 1000) (p < 0.0001) in parallel with
increasing births in women 35 years old in the
population. 237 (29%) underwent therapeutic proce-
dures (203 (86%) surgery, of whom 16 after initial
catheter intervention, and 34 (14%) catheter inter-
vention alone). 39/237 (16%) died, 101 (43%) were
repaired and 97 (41%) had some minor residual de-
fect. The death rate declined significantly from 65/532
(12%) born 1982-2001 to 11/296 (4%) born 2002-11
(p = 0.0001). 37/76 (49%) deaths occurred within 28
days after birth. Conclusions: The rate of detection of
CHDs increased substantially after introduction of
echocardiography in newborns with suspected CHD,
especially VSDs. Some critical CHDs were overlooked.
The prenatal detection rate of such defects increased.
The prevalence of CHDs with associated chromoso-
mal disorders increased in parallel with increasing
maternal age in the population. Most deaths occurred
during the neonatal period. Increasing survival in-
creases the load on long-term follow-up programmes.
Keywords: Congenital Heart Defects; Prevalence;
Associated Malformations; Spontaneous Cure; Surgery;
Congenital heart defect (CHD) is the most common type
of malformations. The panorama of CHDs ranges from
small ventricular septal defects (VSDs) which spontane-
ously close days or weeks after birth, to complex disor-
ders causing an early death. Progress in diagnostics and
in medical and surgical treatment have improved the
outcome for CHDs during the last decades [1,2]. Few
studies have, however, presented complete data for place
and time of diagnosis, associated syndromes and mal-
formations, therapeutic intervention and outcome of
children with CHDs in an unselected population over a
long period of time. This broad perspective is important
to understand the dynamics of CHDs as a group, and for
evaluation of the effectiveness of pediatric cardiology
programmes. Further it may shed some light on chal-
lenges to be faced by adult cardiology from children with
persistent cardiac morbidity growing into adult age (GUCH-
programmes) [3]. Such a perspective may be of special
interest because new diagnostic technology (echocardi-
ography) and strategies (prenatal heart screening, echo-
cardiography in newborn infants with suspected CHD,
pulse oximetry screening) have improved the time and
rate for detection of CHDs, and thus changed the visible
panorama of such defects in the population [4,5].
The aims of the present study were to evaluate main
trends for prevalence of CHDs, quality of diagnostic
strategies, occurrence of associated syndromes and mal-
formations, spontaneous resolvement, need for therapeu-
tic procedures (surgery, catheter interventions), outcome
and need for referral to a GUCH-programme in an unse-
lected population of infants and children born alive dur-
ing a 30-year period (1982-2011).
*The author is a consultant neonatologist at the Vestfold Hospital Trust,
supporting the study financially.
A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227
2.1. Population
Vestfold County Central Hospital has the only delivery
unit (about 2300 deliveries a year) and the only paedi-
atric department (including neonatal special and inten-
sive care unit, and paediatric outpatient clinic) caring for
children with CHD in the County of Vestfold, Norway
(total population 230,000). A close collaboration be-
tween the paediatric department and the Child Health
Centres in the county (ambulatory pediatric services
from our department to the health centres), with the pe-
diatric departments of the hospitals in the neighbouring
counties, and the regional paediatric cardiology centre
makes it possible to obtain (nearly) complete epidemiol-
ogical data from the population.
2.2. Diagnostic Strategies
All newborn infants were clinically examined by a pe-
diatrician during their stay in the nursery or neonatal unit
before discharge from hospital after birth, preferentially
on the first or second day after birth. If a CHD was sus-
pected, chest X-ray, blood pressure measurements, pulse
oximetery, blood tests or echocardiography were un-
dertaken at the discretion of the pediatrician. During the
period 1982-85, however, healthy newborn infants with
cardiac murmurs were followed clinically through the
first 6 months of life and were not routinely referred for
echocardiography if the murmur disappeared. From 1986
newborn infants with clinical signs of CHD were invest-
tigated with echocardiography as soon as possible and
before discharge from hospital. Children referred to our
outpatient clinic or admitted to our paediatric ward for
cardiological investigations were for the whole period
referred for echocardiography if clinical examination by
a paediatrician and/or standard laboratory tests indicated
a possible heart defect.
Ultrasound screening of the fetus, offering one ex-
amination at about 18th week of gestation for all preg-
nant women was established 1986. This has been the
basic strategy up to now, however, with increasing focus
on detecting fetal malformations, especially during the
last decade.
2.3. Patients
All CHDs in the 30-year cohort of children belonging to
the Vestfold population (mother resident in the county at
delivery) born alive 1982-2011 were prospectively reg-
istered. 90% were born at the Vestfold County Central
Hospital. Time and place for diagnosis, the rate of spon-
taneous cure, therapeutic procedures (surgery, catheter
interventions) and their results, persistence of non-oper-
ated defects, associated syndromes and extracardiac de-
fects, and mortality were registered. Patients dying with
an unrecognised CHD detected by autopsy were included.
Data were not available for pregnancies terminated be-
cause of fetal malformations.
The patients were followed until 16 years of age, when
transferred to a GUCH-programme. The collection of
data was finished April 1, 2012, allowing at least three
months of follow-up for the last born infants in the co-
2.4. Classification of CHDs
Classification of the CHDs was carried out according to
international standards [6]. An arbitrary system of cate-
gorization of the many combinations of congenital heart
defects was used, which allows a single diagnostic cate-
gorization per patient [7]. Excluded from the series were:
1) children with bicuspid aortic valve only with no aortic
stenosis (AS) or regurgitation; 2) children with cardiac
arrythmia only; 3) patent ductus arteriosus (PDA) in all
preterm infants, and in term infants unless the duct
stayed open after 6 months of age; 4) infants with iso-
lated left to right interatrial shunt not present beyond the
age of 6 months.
As critical CHDs were defined those causing death or
requiring invasive therapeutic procedures before 28 days
of life.
2.5. Statistics
Statistical differences between groups were tested by
chi-square test and Fischer’s exact test. A probability
value of p < 0.05 was regarded as significant.
3.1. Prevalence
A CHD was diagnosed in 828 out of 71,217 live born
infants (12 per 1000). The prevalence increased from 8
per 1000 for infants born 1982-85 to 12 per 1000 in those
born 1986-2011 (p < 0.0001), with no significant changes
during the last period. The increase was caused by im-
proved detection of VSDs, from 4.1 to 7 per 1000 (p =
0.0001). Table 1 shows the distribution and Figure 1 the
prevalences of the CHDs. VSDs accounted for 474/828
(57%), og which 382 (81%) were located to the muscular
part of the interventricular septum and 92 (19%) to the
membraneous/perimembranous part.
3.2. Diagnosis
Figure 2 shows time and place for diagnosis. In 606/828
(73%) patients the CHD was detected before discharge
from hospital after birth (13 prenatally, 585 by routine
examination in the nursery or clinically after transferral
to the neonatal intensive care unit (NICU) because of
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A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227
Copyright © 2012 SciRes.
Figure 1. Prevalences of congenital heart defects (n = 828).
Figure 2. Time and place for diagnosis of congenital heart defects (n =
828); detected prenatally (n = 13), clinically in nursery/NICU (n = 585) or
after discharge from hospital (n = 220), and unrecognized defects detected
by autopsy (n = 10).
symptoms of disease, and 8 unrecognized defects de-
tected by autopsy). In 222 (27%) cases the CHDs were
missed to be detected after disharge (2 unrecognized and
detected by autopsy) (Table 2). Twelve (1.5%) missed
cases were critical CHDs (causing death or requiring
invasive procedures before 28 days of life). Only 4/67
(6%) critical CHDs were diagnosed prenatally in infants
born 1997-2006, compared to 4/11 (36%) born 2007-11
(p = 0.01). Of the missed cases 134/222 (60%) were di-
agnosed during the first year of life, and the rest during
the following years up to adolescence (Figure 3). VSDs
accounted for most of the missed cases (97/222; 44%).
Figure 4 shows the percentages of cases detected before
or after discharge for the different types of CHDs.
3.3. Associated Syndromes and Malformations
In 177 (21%) of the CHD cases extracardial syndromes
or malformations occurred. Of these, 73 (41%) had
chromosomal disorders, 30 (17%) recognizable syn-
dromes (microdeletions allocated to this group) and 74
(42%) simple or multiple extracardiac malformations.
The occurrence of CHDs with associated chromosomal
disorders increased significantly, and in parallel with
increasing incidence of births in women 35 years of
age (Figure 5). 60/73 (82%) of the chromosomal disor-
ders were trisomies.
A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227
3.4. Spontaneously Resolved CHDs
A total of 347 (42%) CHDs resolved spontaneously, of
which 292 (84%) were VSDs. The spontaneous closure
rate for all VSDs was 292/474 (62%). Of the VSDs lo-
cated to the muscular part of the interventricular septum
270/382 (71%) resolved compared to 22/92 (24%) lo-
cated to the membraneous/perimembranous septum (p <
0.0001). Other resolving defects were atrial septal defect
(ASD) (33/82; 40%), pulmonary stenosis (PS) (15/48;
31%), PDA (5/36; 14%) and AS (2/28; 7%).
3.5. Therapeutic Interventions
In a total of 237 (29%) patients therapeutic interventions
were undertaken, of whom 203 (86%) had surgery (16
Table 1. Distribution of congenital heart defects.
Type of defect n %
Ventricular septal defect 474 57.2
—Muscular 382 46.1
—Membranous/perimembranous 92 11.0
Atrial septal defect 82 9.9
Pulmonary stenosis 48 5.8
Patent ductus arteriosus 36 4.3
Transposition of the great arteries 28 3.4
Coarctation of the aorta 28 3.4
Aortic stenosis 28 3.4
Tetralogy of Fallot 21 2.5
Atrioventricular septal defect 21 2.5
Hypoplastic left heart syndrome 14 1.7
Single ventricle 10 1.2
Pulmonary atresia 4 0.5
Truncus arteriosus 3 0.4
Other 31 3.7
Total 828 100
after initial catheter intervention) and 34 (14%) catheter
intervention alone. 39/237 (16%) died, 101 (43%) were
repaired and 97 (41%) had minor residual defects or pal-
liative procedures as an end-stage operation. Signifi-
cantly more VSDs located to the membraneous/pe-
rimembraneous part than the muscular part of the septum
were operated (39/92 (42%) and 7/382 (2%) respectively)
(p < 0.0001). Of 373 children with CHD born 1982-96,
56 (15%) has a persistent CHD without undergoing thera-
peutic intervention before passing 16 years of age.
3.6. Deaths
Figure 6 shows the mortality rates for the six 5-year co-
horts. A total of 76 (9%) patients died. The death rate fell
from 65/532 (12%) in patients born 1982-2001 to 11/296
(4%) born 2002-11 (p = 0.0001). 37/76 (49%) died
within 28 days after birth, of whom only 13 (35%) were
operated. Out of 10 deaths where the CHD was unrecog-
nized (diagnosed by autopsy) 7 died during the first day
of life from other complex malformations/syndromes,
most born prematurely (Table 2).
3.7. Grown up Children with CHD
Figure 7 shows the outcome in children with CHD born
1982-96 at 16 years after birth (n = 373). If patients with
untreated persistent CHD and those passing surgery
without being repaired are to be referred for a GUCH
programme, 27% of all CHD patients would be referred
(3.2 per 1000). If those with untreated persistent defects
and all patients passing surgery (whether repaired or not)
should be referred, these would account for 42% of all
CHD patients (4.9 per 1000).
4.1. Prevalence
In this prospective population based study the prevalence
of structural CHDs was found as high as 12 per 1000 live
Table 2. Deaths of unrecognized congenital heart defects (CHD) detected by autopsy.
Patient CHD Associated con di tions Age at death
1 Ventricular septal defect Trisomy 18, immaturity 30 minutes
2 Atrioventricular septal defect Diaphragmatic hernia, prematurity 30 minutes
3 Transposition of the great arteries Potter syndrome, prematurity 45 minutes
4 Ventricular septal defect Trisomy 13/15, prematurity 50 minutes
5 Ventricular septal defect Esophageal atresia, prematurity 6 hours
6 Tetralogy of Fallot Diaphragmatic hernia, prematurity 6 hours
7 Double outlet right ventricle Ivemark syndrome 9 hours
8 Ventricular septal defect Prune belly syndrome 16 days
9 Atrial septal defect Degenerative central nervous system disease 22 months
10 Atrial septal defect Wolf-Hirschorn syndrome 22 months
Copyright © 2012 SciRes. OPEN ACCESS
A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227 223
Figure 3. Cumulative percentage of late detected congenital heart defects (after discharge from hospital af-
ter birth; n = 222).
Figure 4. Percentages of different types of congenital heart defects diagnosed prenatally (n =
13), in nursery or NICU before discharge (n = 593; including 8 unrecognized CHDs detected
by autopsy) or after discharge from hospital after birth (n = 222; including 2 unrecognized
CHDs detected by autopsy).
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A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227
Copyright © 2012 SciRes.
Figure 5. Prevalences of congenital heart defects with associated chromosomal disorders (n
= 73), recognizable syndromes (n = 30) or extracardiac malformations (n = 74), and the per-
centage of births given by women 35 years old.
Figure 7. Outcome of congenital heart defects in 373 patients
at 16 years after birth.
Figure 6. Neonatal (<28 days; n = 37) and postneonatal (28
days; n = 39) deaths in 828 patients with congenital heart de-
heart murmur. Thereafter there was a declining influx of
new cases up to adolescence. As unrecognized CHDs
also are detected in adulthood, the cumulative life time
prevalence of CHDs will be even higher than 12 per
born infants. This is 50% higher than the 8 per 1000 usu-
ally given in the literature [8,9]. The high prevalence was
caused by an increased detection rate of VSDs, mostly
located to the muscular interventricular septum, and with
a high spontaneous closure rate. The strategy introduced
1986 with early echocardiography in newborn infants
with suspected CHD is the most probable explanation [4]
(see below), and not a real increase of VSDs in the
population [5]. The other types of CHDs were found to
have an unchanged prevalence.
4.2. Diagnosis
Most CHDs were detected in the routine clinical exami-
nation of newborns in the nursery before discharge home,
emphasizing the importance of this clinical screening. A
substantial number were, however, missed and detected
later on. Some of these were critical heart defects, with
the patients readmitted in a circulatory collapse or severe
heart failure in need of emergency surgical intervention.
It is a main goal to avoid missing such cases, which to a
As many as 27% of the CHDs were diagnosed after
discharge from hospital after birth, most of these (60%)
were diagnosed during the first year of life because of
A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227 225
large extent are ductus dependent CHDs deteriorating
when the ductus arteriosus closes a few days after birth
[10]. Fetal heart screening would be the best way of de-
tecting such CHDs, giving possibility for referral for
birth at a tertiary care center with high quality cardio-
logic diagnostics and surgery available. In our study few
CHDs in the total population of heart defects were de-
tected prenatally (5% during the last 5-year period). For
critical CHDs the prenatal detection rate was considera-
bly higher (36% during the last 5-year period). Fetal
heart screening has improved over time, and the detec-
tion rate of critical defects may be further improved, as
shown in studies from centers of excellence [11]. Uni-
versal neonatal pulse oximetry screening may facilitate
early postnatal detection of critical CHDs [12,13], before
heart failure develops.
For non-critical heart defects VSDs accounted for
nearly half of the cases missed. Of the different types of
heart defects PDA, AS and ASD were the most over-
looked. CHDs may be missed because audible murmurs
are not present the first days after birth, and first be de-
tectable when postnatal pulmonary vascular resistance
decreases with a contemporary increase of the left-to-
right shunting through a septal defect or PDA. Valves
may gradually grow more stenotic, especially the aortic
valves [14].
4.3. Associated Syndromes/Malformations
More than one fifth of the CHD cases had associated
syndromes or extracardiac malformations. This is in ac-
cordance with other studies [15,16]. Progress in genetic
science has disclosed new etiologies for CHD, e.g. mi-
crodeletion syndromes [17]. Detection of a CHD should
be followed by a thorough clinical and laboratory ex-
amination for associated malformations and genetic dis-
An intriguing finding was a substantial increase (more
than double) in CHDs associated with chromosomal dis-
orders. Most of them were trisomies. In the present study
the prevalence of CHDs associated with chromosomal
disorders increased in parallel with the percentage of
women giving birth 35 years of age. It is well known
that women with a high age when conceiving are at in-
creased risk of having a fetus with trisomy, most often
trisomy 21 [18]. Although increasing ascertainment be-
cause of better genetic testing could have influenced the
results, this may have more relevance for subtle genetic
defects (such as microdeletions) than for major chromo-
somal disorders (such as trisomies and translocations).
4.4. Spontaneous Resolvement
Nearly half of all CHDs (42%) resolved spontaneously.
The vast majority of these were small VSDs located to
the muscular part of the interventricular septum. Most of
these close during the first year of life [4,19]. The clo-
sure rate was significantly higher in VSDs located to the
muscular part of the interventricular septum compared to
VSDs located to the membraneus/perimembranous part
(71% vs. 24%). The muscular and membraneous septum
are embryologically different structures. These two types
of VSDs apparently also are two different types of mal-
formations when it comes to the clinical picture, with
muscular VSDs occurring four times as frequent, having
a three times higher spontaneous closure rate and a
nearly negligible need for surgical intervention. Similar
conclusions has been drawn by Garne [20], who in mus-
cular and perimembranous VSDs found a spontaneous
closure rate of 65% and 20% respectively.
Hiraishi et al. [19] screened full-term newborn infants
with echocardiography and color Doppler imaging for
muscular VSDs. They found the incidence of such de-
fects to be as high as 2%. Spontaneous closure of 76% of
the defects occurred during the first year of life, consis-
tent with our data. The developmental pattern of the
muscular ventricular septum includes multiple intervene-
tricular channels, which are gradually obliterated during
intrauterine life by coalescence of the trabecular sheets
[21]. From this perspective, closure of small muscular
VSDs during the first months after birth may be regarded
as a protracted normal developmental process. It may be
questioned if such a “defect” should be classified as a
structural CHD.
Also ASD, PDA and valvar stenosis (especially PS)
had a significant spontaneous resolvement.
4.5. Therapeutic Interventions
Nearly one third of all CHD cases were in need of some
therapeutic procedure, most surgery, however, also
catheter interventions. Catheter intervention has gained
increasing popularity for closing ASD, PDA and even
VSDs, as well as balloon aortic and pulmonary valvu-
lotomy and dilatation or stenting for coarctation of the
aorta (CoA). Intervention carry risks for rest or residual
defects, which occurred in nearly half of all cases pass-
ing therapeutic procedures. Most were, however, minor
ones. If a therapeutic procedure is truly corrective (or
curative) the individual should achieve a normal func-
tional status and anticipated life expectancy, and experi-
ence no further cardiac morbidity related to the heart
defect. In a large study Morris and Menashe [2] found
that individuals with surgery for ASD, PS and PDA
closest to satisfy these criteria, and the surgical repair to
be considered corrective and essentially curative. For
other defects such as tetralogy of Fallot (ToF), VSD,
coarctation of the aorta (CoA), AS and transposition of
the great arteries (TGA) continuous cardiac mortality
through 25 years after surgery prevented use of this re-
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A. Meberg / Open Journal of Pediatrics 2 (2012) 219-227
strictive definition of correction. Even repaired CHDs
may have an increased death risk over time, some caused
by letal arrythmias [22]. Probably all patients undergoing
therapeutic interventions should be included in a life-
long follow-up programme.
4.6. Deaths
Mortality declined significantly over time, reflecting a
steady improvement in cardiologic diagnostics and thera-
peutic interventions. Nearly half of the deaths occurred
during the first four weeks of life. A substantial number
of these cases died without therapeutic procedures being
undertaken because of the complexity of the CHDs or
severe associated syndromes or extracardiac malforma-
tions. Further deaths occurred during infancy after the
neonatal period, causing a total of 80% of the deaths to
occur during the first year of life.
Some cases died with an unrecognized CHD detected
by autopsy. However, most of these cases died very early
(minutes or hours after birth) from associated extracar-
diac malformations, most of them born prematurely.
None of these deaths were judged to be avoidable. A
positive trend for minimizing deaths of patients with
unrecognized CHDs is found in other studies [23].
4.7. GUCH Programmes
The improved prognosis for CHDs has increased the
number of patients in need for long-term follow-up. Spe-
cial GUCH-programmes have been established to take
care of these patients. Such programmes focus on their
heart condition as well as growth and development, edu-
cation and work, family planning and pregnancy [24]. It
may be disputed what heart conditions need such spe-
cialized follow-up. If all patients with a CHD are defined
as risk cases, even those with spontaneous resolvement,
1% of the general population of children will need a
GUCH-programme. If only risk groups are referred (such
as untreated patients with a persistent CHD and selected
groups passing surgery) 0.3% - 0.5% of the general popu-
lation of children will need a life-long specialized care.
The prevalence of CHDs increased significantly after
introduction of echocardiography in newborns with sus-
pected CHD, all caused by an increased detection rate of
small muscular VSDs. The prevalence of CHDs with
associated chromosomal disorders increased in parallel
with increasing high birthing age. A substantial number
are overlooked in the routine heart screening after birth,
even some critical CHDs. The prenatal detection rate of
critical CHDs increased. Most deaths occurred during
infancy, especially in the neonatal period. Increasing
survival increases the need for referral for long-term fol-
The study was supported by a grant from Vestfold Hospital Trust.
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AS: Aortic stenosis;
ASD: Atrial septal defect;
AVSD: Atrioventricular septal defect;
CoA: Coarctation of the aorta;
GUCH: Grown up children with heart disease;
HLHS: Hypoplastic left heart syndrome;
IAA: Interrupted aortic arch;
NICU: Neonatal intensive care unit;
PS: Pulmonary stenosis;
PDA: Patent ductus arteriosus;
SV: Single ventricle;
TGA: Transposition of the great arteries;
ToF: Tetralogy of Fallot;
VSD: Ventricular septal defect.