CARDIOVASCULAR JOURNAL OF AFRICA • Vol 21, No 1, January/February 2010
AFRICA
35
are often complex lesions requiring early and multiple surgical
interventions. This is highlighted by the fact that 75% (28/37) of
our patients required surgery, of which 42% (12/28) were pallia-
tive surgical procedures.
Three patients died post-operatively and another one died
totally unrelated to surgery. This suggests that mortality in these
patients does not differ markedly from non-syndromic children
with similar congenital cardiac lesions. In our opinion, the pres-
ence of VCFS should therefore not delay or deter cardiac surgery.
Acceptable surgical outcomes are supported by other studies, but
the complexity of the underlying lesion and associated anomalies
should be taken into account.
18-21
A common cardiac finding in our patient group was a right-
sided aortic arch, which was present in almost half of the chil-
dren, compared to the 0.1% in a normal patient population.
22,23
This is of clinical importance and therefore one should consider
the presence of microdeletions of chromosome 22q11 in patients
with right-sided aortic arches. It is also noteworthy that six
patients presented post-operatively with low serum calcium
values. Hypocalcaemia has been described in 17 to 50% of
VCFS cases.
5,10,24
Cardiothoracic surgeons and intensivists taking
care of these patients should be aware of this potential problem,
since it may lead to seizures.
The age of our patients at diagnosis was fairly advanced,
essentially due to the fact that we tested previously-seen as well
as new patients at the clinic only once the laboratory introduced
testing with the FISH probe. As the investigators became famil-
iar with the facial features, the diagnosis was made at a much
earlier age, even before two weeks of age.
Short stature was common in our patients, but it is an interest-
ing finding that these children had a mild, although not statisti-
cally significant, improvement in growth as they got older. This
finding lends further evidence to other studies, which showed
that features differ in older patients
25,26
and that the microdeletion
22q11 phenotype may evolve with time. Studies with objective
anthropometric measurements of facial characteristics in chil-
dren with VCFS are rare.
26
Our results mostly showed minor abnormal facial meas-
urements. Small, narrow ears were the most notable finding.
However, this is also found in other syndromes, for example Down
syndrome. A narrow face and a longish mid-face were the other
more prominent abnormal measurements compared to normal
reference values. These findings are in agreement with literature
reports and confirm that facial abnormalities are varying and
inconsistent features in children with VCFS.
26–28
Alternatively,
these findings could support the results of McDonald-McGinn
9
that facial features in African children are less pronounced, since
they made up 70% (17/24) of the group in which we performed
facial measurements.
Overall, the results of this study are in agreement with inter-
national data. It is clear, therefore, that South African physicians
should take note of this condition. Apart from the fact that
cardiac defects are common and an important cause of morbid-
ity and mortality, the associated problems should be recognised
and managed. Developmental delay, failure to thrive and feeding
difficulties are common during infancy.
27,28
Forty-five per cent
of children with the microdeletion have conductive hearing loss
or hypernasal speech (75%) and these are some of the most
distressing aspects for parents.
27,29,30
Furthermore, behavioural problems such as attention deficit
disorder, autistic spectrum disorder, bipolar disorder and schizo-
phrenia have been reported in 10 to 30% of teenagers and adults
with VCSF.
31,32
Learning difficulties were universal in the chil-
dren of school-going age in this study and early diagnosis and
intervention can reduce the impact. This syndrome is therefore
important to recognise since these children need appropriate
referral and specialised, multidisciplinary care for their multiple
medical, learning and social problems.
Limitations of the study
The patients were a selected group due to the fact that the study
was confined to children presenting at a cardiology unit and it is
therefore not a reflection of the prevalence of this syndrome. The
study was also limited to the more commonly abnormal measur-
able facial features and did not attempt to describe all the facial
dysmorphic features of the 22q11 microdeletion syndrome.
There are no normal values for the facial measurements of South
African children and the mean values used to determine the
z
-scores are for American children. It is clear that further studies
are indicated to determine the prevalence and long-term outcome
of VCFS in South African children.
Conclusions
Microdeletions of chromosome 22q11 are present in children
from the Free State and Northern Cape. Conotruncal cyanotic
heart lesions, especially tetralogy with or without pulmonary
atresia and truncus arteriosus were the most frequent congeni-
tal cardiac diagnoses. A right-sided aortic arch was commonly
present in these children. Facial features varied and small ears
were the most notable anthropometric feature. A right-sided
aortic arch with or without a congenital cardiac lesion, long,
narrow mid-face and small ears should alert the physician to the
possibility of a microdeletion on the long arm of chromosome 22
and prompt FISH probe testing.
Daleen Struwig, medical writer, Faculty of Health Sciences, University of the
Free State, is acknowledged for the technical and editorial preparation of the
manuscript for publication.
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