Rare Diseases Symptoms Automatic Extraction
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The mosaic of the cardiac amyloidosis diagnosis: role of imaging in subtypes and stages of the disease.
[fabry disease]
Cardiac
amyloidosis
is
a
rare
,
infiltrative
cardiomyopathy
that
presents
with
thickened
ventricular
walls
and
progressive
heart
failure
.
The
morphological
findings
and
clinical
features
are
shared
with
many
other
diseases
(
i
.
e
.
hypertrophic
cardiomyopathy
,
'
athlete
's
heart
,
'
Fabry
disease
,
and
hypertensive
cardiomyopathy
)
,
and
misdiagnosis
occurs
frequently
.
Cardiologists
have
many
instruments
that
can
help
reach
a
correct
diagnosis
in
a
relatively
short
time
.
As
tiles
of
a
mosaic
are
placed
to
create
an
image
,
thoughtful
and
smart
use
of
the
different
diagnostic
tools
available
allows
the
opportunity
to
identify
amyloid
infiltration
of
the
myocardium
.
When
the
myocardium
is
involved
,
prognosis
is
poor
,
so
identification
of
its
involvement
is
crucial
for
disease
management
.
The
diagnostic
process
begins
with
an
accurate
evaluation
of
clinical
elements
and
includes
cardiovascular
imaging
(
echocardiography
,
magnetic
resonance
,
and
nuclear
medicine
)
,
electrocardiography
,
serological
assays
,
and
myocardial
biopsy
;
only
the
appropriate
integration
of
these
instruments
can
reveal
the
diagnosis
to
an
expert
physician
.
The
latest
improvements
in
non-invasive
diagnostic
techniques
with
increased
diagnostic
power
have
reduced
the
need
for
biopsy
.
Diseases
Validation
Diseases presenting
"hypertrophic cardiomyopathy"
symptom
fabry disease
focal myositis
systemic capillary leak syndrome
This symptom has already been validated
