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Holt-Oram syndrome presenting as agenesis of the left pericardium.
[holt-oram syndrome]
We
report
on
a
case
of
a
60
-
year
-old
man
with
progressive
heart
failure
,
mitral
and
aortic
valve
insufficiency
and
bilateral
asymmetrical
skeletal
upper
-
limb
deformities
.
Central
to
the
suspicion
of
Holt-
Oram
syndrome
in
this
patient
was
the
surgical
finding
of
agenesis
of
the
left
pericardium
.
A
Holt-
Oram
syndrome
diagnostic
was
confirmed
through
molecular
analysis
of
the
TBX
5
gene
.
A
new
amino
acid
substitution
at
position
61
of
the
TBX
5
gene
was
identified
and
confirmed
the
clinical
diagnosis
of
Holt-
Oram
syndrome
.
The
clinical
presentation
of
the
present
case
broadens
the
clinical
spectrum
of
Holt-
Oram
syndrome
and
point
out
the
importance
of
Tbx
5
in
pericardium
development
.
It
is
still
an
unstudied
issue
whether
TBX
5
mutations
may
also
be
present
in
other
clinical
presentations
where
absence
of
the
pericardium
is
a
feature
.
Diseases
Validation
Diseases presenting
"absence of the pericardium"
symptom
holt-oram syndrome
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