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Holt-oram syndrome in adult presenting with heart failure: a rare presentation.
[holt-oram syndrome]
Holt-
Oram
syndrome
is
a
rare
inherited
disorder
involving
the
hands
,
arms
,
and
the
heart
.
The
defects
involve
carpal
bones
of
the
wrist
and
the
thumb
and
the
associated
cardiac
anomalies
like
atrial
or
ventricular
septal
defects
.
Congenital
cardiac
and
upper
-
limb
malformations
frequently
occur
together
and
are
classified
as
heart
-
hand
syndromes
.
The
most
common
amongst
the
heart
-
hand
disorders
is
the
Holt-
Oram
syndrome
,
which
is
characterized
by
septal
defects
of
the
heart
and
preaxial
radial
ray
abnormalities
.
Its
incidence
is
one
in
100
,
000
live
births
.
Approximately
three
out
of
four
patients
have
some
cardiac
abnormality
with
common
associations
being
either
an
atrial
septal
defect
or
ventricular
septal
defect
.
Herein
,
we
report
a
rare
sporadic
case
of
Holt-
Oram
syndrome
with
atrial
septal
defect
with
symptoms
of
heart
failure
in
a
forty-
five
-
year
-old
lady
who
underwent
emergency
cardiac
surgery
for
the
symptoms
.