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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.
[22q11.2 deletion syndrome]
Background
:
To
alert
for
the
diagnosis
of
the
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
in
patients
with
congenital
heart
disease
(
CHD
)
.
Objective
:
To
describe
the
main
CHDs
,
as
well
as
phenotypic
,
metabolic
and
immunological
findings
in
a
series
of
60
patients
diagnosed
with
22
q
11
.
2
DS
.
Methods
:
The
study
included
60
patients
with
22
q
11
.
2
DS
evaluated
between
2007
and
2013
(
M
:
F
=
1
.
3
,
age
range
14
days
to
20
years
and
3
months
)
at
a
pediatric
reference
center
for
primary
immunodeficiencies
.
The
diagnosis
was
established
by
detection
of
the
22
q
11
.
2
microdeletion
using
FISH
(
n
=
18
)
and
/
or
MLPA
(
n
=
42
)
,
in
association
with
clinical
and
laboratory
information
.
Associated
CHDs
,
progression
of
phenotypic
facial
features
,
hypocalcemia
and
immunological
changes
were
analyzed
.
Results
:
CHDs
were
detected
in
77
%
of
the
patients
and
the
most
frequent
type
was
tetralogy
of
Fallot
(
38
.
3
%
)
.
Surgical
correction
of
CHD
was
performed
in
34
patients
.
Craniofacial
dysmorphisms
were
detected
in
41
patients
:
elongated
face
(
60
%
)
and
/
or
elongated
nose
(
53
.
3
%
)
,
narrow
palpebral
fissure
(
50
%
)
,
dysplastic
,
overfolded
ears
(
48
.
3
%
)
,
thin
lips
(
41
.
6
%
)
,
elongated
fingers
(
38
.
3
%
)
and
short
stature
(
36
.
6
%
)
.
Hypocalcemia
was
detected
in
64
.
2
%
and
decreased
parathyroid
hormone
(
PTH
)
level
in
25
.
9
%
.
Decrease
in
total
lymphocytes
,
CD
4
and
CD
8
counts
were
present
in
40
%
,
53
.
3
%
and
33
.
3
%
,
respectively
.
Hypogammaglobulinemia
was
detected
in
one
patient
and
decreased
concentrations
of
immunoglobulin
M
(
IgM
)
in
two
other
patients
.
Conclusion
:
Suspicion
for
22
q
11
.
2
DS
should
be
raised
in
all
patients
with
CHD
associated
with
hypocalcemia
and
/
or
facial
dysmorphisms
,
considering
that
many
of
these
changes
may
evolve
with
age
.
The
22
q
11
.
2
microdeletion
should
be
confirmed
by
molecular
testing
in
all
patients
.
Diseases
Validation
Diseases presenting
"hypogammaglobulinemia"
symptom
22q11.2 deletion syndrome
hirschsprung disease
kabuki syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
This symptom has already been validated
