Niger J Paed 2012; 39 (4):164 –167  
Otaigbe BE  
Tabansi PN  
Agbedeyi GO  
Pattern of congenital heart defects  
in children with Down syndrome at  
the University of Port Harcourt  
Teaching Hospital, Port Harcourt  
Accepted: 31st March 2012  
Abstract Down syndrome (DS) is  
the most common chromosomal  
abnormality in man and congenital  
heart defects (CHD) the most life  
threatening of its manifestations.  
The cardiac anomalies and early  
pulmonary hypertension are associ-  
ated with high morbidity and mor-  
tality. It is thus important to diag-  
indication for surgery, clinical and  
echocardiographic findings and  
o u t c o m e w a s a n a l y s e d .  
Result: Of the 31 patients who had  
echocardiography done, all had  
cardiac defects (100%). Patent duc-  
tus arteriosus, occurring solitarily or  
in combinations was the common-  
est cardiac defect seen followed by  
Agbedeyi GO  
Otaigbe BE, Tabansi PN  
Department of Paediatrics,  
University of Port Harcourt  
Teaching Hospital,  
Port Harcourt, Rivers State.  
E-mail: tagbedeyi@yahoo.com  
Tel : +2348033908601  
nose and intervene early to improve ventricular septal defects. Interest-  
the quality of life. Few studies ingly, over 60 % of the patients had  
have been done on Down syndrome multiple cardiac defects with VSD/  
patients in Nigeria.  
PDA, VSD/ASD accounting for  
Objective: The objective was to  
find out the incidence and types of  
congenital heart defects in Down  
syndrome patients seen in the Pae-  
diatric cardiology unit of this terti-  
ary institution.  
Method: A prospective study of  
Down Syndrome patients seen at  
the Paediatric Cardiology clinic of  
the University of Port Harcourt  
Teaching Hospital over a three year  
period was carried out. Data of age,  
sex, birth order, mother’s age,  
Conclusion: The incidence of mul-  
tiple cardiac defects in more than  
60% of DS patients seen under-  
scores the need for early diagnosis  
and intervention. Routine extensive  
cardiac evaluation in the first few  
weeks of life is advocated.  
Key word: Down syndrome, con-  
genital heart defects, Port Harcourt,  
ture as 40-60% of DS children a2-l4s,7o,9have been found to  
have congenital heart defects. It is important to  
Down Syndrome (also known as Tris1omy 21) is the  
commonest chromosomal abnormality with affected  
individuals presenting with multiple malformations and  
mental retardation arising from the presence of an extra  
make a diagnosis9,1o0f congenital heart disease in the first  
six weeks of life as heart disease is a major factor that  
determines the outcome of DS children. It is therefore  
recommended that physicians have a high level of clini-  
cal suspicion for conge0nital heart disease in neonates  
chromosome 21. There are three types of Down Syn-  
drome (DS) – non-familial or non-disjunction (95%),  
unba2la,3nced translocation (3-4%) and mosaicism (1-  
with Down Syndrome. The commonest heart defects  
seen in DS are atrio-ventricular canal defects, ventricu-  
lar septal defects, patent ductus arteriosus, atrial septal  
defects and less commonly tetralogy of Fall3o,4t,,7,9coarcta-  
all of  
live births and the incidence varies from 1:650 to 700.  
The birth prevalence of DS is 9.6 per 10,000  
4 3,5  
The clinical features of Down syndrome can be variable  
with the presence of two or more suggesting a possible  
tion of the aorta and pulmonary stenosis,  
which may occur in isolation or in various combina-  
tions. Down syndrome children with congenital heart  
defects develop irreversible pulmonary vascular disease  
diagnosis and the need for chromosomal studies. Chro-  
mosomal analysis of p,8eripheral blood lymphocytes gives  
a diagnosis of DS. Affected children present with  
earlier than other non-DS patients with heart defects.  
varying phenotypical features, commonly prominent  
epicanthic folds, flat nasal bridge, small mouth, hypoto-  
nia, single transverse palmar crease, clinodacytly, San-  
Initially, following the diagnosis of heart disease DS  
patients were not given the option of corrective surgery  
either by health personnel or parents as their life expec-  
tancy was low and death from Eisenmenger’s syndrome  
dal gap etc. Congenital heart disease is a common fea-  
was common. Over the years this attitude has changed  
of age.  
and more children now have early surgery before they  
are six months old. The outcome of surgery has also  
greatly improved.  
Table 1: Age ranges of mothers.  
Age (years)  
In Nigeria, a recent study done that involved Down syn-  
drome patients found that they constituted 78.3% of all  
syndrome complexes seen and that the commonest heart  
defects were vent1r3icular septal defects and atrioventricu-  
lar canal defects .  
This study was undertaken in Port Harcourt to ascertain  
the incidence and types of congenital heart defects seen  
amongst Down syndrome patients at the Paediatric Car-  
diology clinic.  
The age of the fathers ranged from 33 to 53 years. The  
mean age for the fathers was 44 years.  
All the patients had dysmorphic features, only 12 (39%)  
had a single transverse palmar crease (9 females and 3  
males). 13 (42%) of the patients were referred because  
of failure to thrive and recurrent chest infections. 90.2 %  
were referred because murmurs were heard.  
Of the 38 patients only 31 had echocardiography done  
because of financial constraints.  
This was a prospective study carried out at the Paediatric  
Cardiology clinic of the University of Port Harcourt  
Teaching Hospital (UPTH) on all patients who pre-  
sented with features of Down Syndrome between Janu-  
ary 2009 and February 2012. Patients seen in the clinic  
are usually referred from the Paediatric outpatient clinic  
if they present with a murmur, failure to thrive, recurrent  
chest infection or heart failure. In addition for Down  
patients, the indication included dysmorphic features.  
The following information was obtained from children  
with features of Down syndrome - name, age, sex, clini-  
cal features, birth weight, birth order, mothers’ and fa-  
thers’ ages, indication for referral to Cardiology unit ,  
echocardiography findings and outcome. Echocardiogra-  
phy was done by the Consultant Paediatric Cardiologist  
using the Sonosite Micromaxx machine. Data was ana-  
lysed using Epi Info six.  
Table 2 shows the common cardiac defects found in  
these patients.  
Table 2: Heart defects seen in Down syndrome patients  
Cardiac defect  
Solitary VSD  
Solitary ASD  
Solitary PDA  
A total number of two hundred and fifty - three patients  
with congenital heart disease were seen over the study  
period, of which thirty- eight (15%) had features of  
Down syndrome. However only 31 patients had echo  
done and these alone were analysed. This gave an inci-  
dence of 12%. There were 17 females and 14 males with  
a male-female ratio of 1:1.Their ages ranged from 0.5  
months to 130 months.  
Key: TGA - Transposition of the Great Arteries AVCD – Atrio-  
ventricular Canal Defect PS Pulmonary stenosis  
Four of the children had low birth weight (13%), 12  
Isolated cardiac defects were seen in nine (29%), PS,  
TOF and DORV in one (3%) patient each , while multi-  
ple cardiac defects (ASD/PDA, ASD/VSD, VSD/PDA,  
AVCD/PDA, TOF/ASD) were seen in 19 (61%) of pa-  
39%) had normal birth weights and 15 (48%) of them  
were born at health centres or maternity homes where  
their birth weights were not recorded. With respect to  
order of birth, 23.8% were first born, 20.4 % second  
born, 19% tthhird born, 30.6% fourth born and only one  
each were 6 and seventh children respectively. Their  
mothers’ ages ranged from 25 to 42 years. The mean of  
their ages was 34years. 61.9% of the mothers were aged  
between 26 and 35 years and 30% were above 35years  
Only five of the patients (16%) have had cardiac surgery  
and all in India. Six (19%) have died, one in India be-  
fore undergoing surgery, one from severe pulmonary  
hypertension after surgery , one due to complications of  
surgery for achalasia of the oesophagus, two from  
intractable heart failure in UPTH and two at home with  
immediate cause unknown. 20 (65%) are on follow-up  
and being managed medically while awaiting surgery.  
myopathy and hypertrophic obstructive cardiomyopathy  
and complex cyanotic heart defects , coarctation of the  
aorta and even a case of Pentalogy of Fallot with right  
aortic arch, a perimembranous non-restrictive VSD and  
secundum ASD. In a study done amongst a highly con-  
sanguineous population of DS patients, such defects as  
aortic stenosis, coarctation of the aorta, transposition of  
the great arteries and complex congenital heart diseases  
were not seen. We found two cases of Pentalogy of Fal-  
lot, one of transposition of the great arteries and an iso-  
lated pulmonary stenosis among our study population.  
The incidence of cardiac defects in Down syndrome  
patients seen in this study was 100% which is seemingly  
high but explained by the fact that these patients were  
referred for cardiac evaluation because of existing symp-  
toms and signs suggestive of a cardiac pathology. This  
incidence is thus understandably higher than the known  
Down Syndrome patients with congenital heart defects  
are known to develop pulmonary hypertension at an  
earlier age than non-Down Syndrome patients with heart  
defects – as early as 3-4 months of life. It is seen com-  
monly in t3h,9ose who have AVCDs especially the com-  
plete type. The early development of pulmonary hy-  
pertension has been attributed to the reduced pulmonary  
alveolarization in DS or th5e increased risk of upper res-  
views of Down patients.  
0-60% documented in2t-e4r,9n,1a3tionally and locally in re-  
That 60% of the children were second born and higher  
in birth order, differs from previous study results that  
piratory tract obstruction. As a result of these develop-  
DS patients were mainly the first born. This is probably  
ments it is advocated that DS patients are reviewed by  
cardiologists on or before six weeks of life (preferably  
by 2 weeks) and a compl,1e0te cardiac evaluation including  
explained by the fact that some of the mothers in this  
study are young and also multiparous.  
ECG and ECHO done. All patients who have cardiac  
Two-thirds of the mothers were younger than 35 years  
which is similar to a Mexican study showing that the  
highest proportion (34%) of the DS patients were born  
defects should be offered surgery by the age of four  
months to avoid the development of pulmonary hyper-  
tension. Surgery is also done because of the possibility  
of upper airway obstruction, respiratory symptoms,  
feeding difficulties and poor growth that are symptoms  
to mothers who were aged 16-25 years. . This is not in  
keeping with previous studies that claimed DS due to  
non-disjunction was commoner with advanced maternal  
age. However, in this study chromosomal analysis was  
not done. Another study showed there is no significant  
difference in the mother’s age or race between those DS  
patie4nts who have cardiac defects and those who do  
associated with congestive heart failure. The younger a  
DS child is at surgery the more likely it is to be success-  
ful and the pulmonary hypertension reversible.  
Amongst the patients studied only five (16%) had pul-  
monary hypertension. Other studies have 3given the inci-  
dence of pulmonary hypertension as 50%.  
In this study, multiple cardiac defects were seen in 19  
A review of national data proved that Down syndrome  
patients had no increased mortality risk following sur-  
gery for common heart defects. However they did have  
longer hospital stays and higher rates of post-operative  
complications after repairs of ASDs, VSDs and tetralogy  
61%) patients with only nine (29%) patients having  
isolated cardiac defects which were a solitary VSD,  
ASD, PDA in contrast to other studies which showed  
that more commonly DS3,p7 atients have isolated heart  
defects than multiple ones.  
of Fallot. Another study says 15% of DS patients who  
have surgery have a good outcome at one year from sur-  
The commonest cardiac defect seen was PDA which  
accounted for over 50% of cases and seen mainly in  
combination. This contrasts with most studies done  
worldwide in which atrio-ven4,t5r,8ic,9u,1l4a-1r5 canal defects were  
gery. Down Syndrome patients with complete AVCDs  
who do not have surgery m9ay either end up with severe  
cardiac disability or death.  
Four of the five patients  
who had surgery were operated before one year of age  
and the Pentalogy of Fallot repair was at two years of  
age . Aside from the two who died ( both post-  
opearatively and the other from another noncardiac sur-  
gery one year later ) all other three are doing well post  
operatively. The small percentage of patient s with DS  
having surgery in our study is not only due to the cost  
of the surgery (which is not done in Nigeria) but also  
probably due to the fact that the parents are counseled  
and aware that the cardiac surgery does not change the  
phenotypic appearance and degrees of mental  
the commonest heart defects.  
Only two patients  
had complete AVCD with single A-V valve in this  
study, one of whom was diagnosed at one week of age  
and died at twoweeks. Two others have transitional A-V  
canal defect and are being managed medically and  
awaiting surgery.  
In Mexico and Oman, secundum atrial septal defects  
were the commonest heart defects seen in DS children  
while in Malaysia6 VSDs were found in a high of 41.1%  
of DS patients. Other heart defects that have been  
retardation associated with DS  
documented are tetralogy of Fallot as a solitary4,7l,1e3s,1i7on or  
in combination with AVCDs, ASDs or PDAs  
isolated pulmonary stenosis, hypertrophic cardio-  
50% of DS patients underscores the need for early diag-  
nosis and intervention to improve the quality and expec-  
tancy of life. Routine extensive cardiac evaluation in the  
first few weeks of life is advocated.  
Down Syndrome patients have a number of manifesta-  
tions, the most debilitating being the cardiac defects.  
The incidence of multiple cardiac defects in more than  
Conflict of interest: None  
Funding: None  
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