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Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction.
[fabry disease]
Fabry
disease
is
a
rare
X-
linked
lysosomal
storage
disorder
caused
by
mutations
in
the
alpha-galactosidase
gene
.
The
most
frequent
cardiac
presentation
of
Fabry
disease
is
cardiomyopathy
characterized
by
left
ventricular
(
LV
)
hypertrophy
,
usually
concentric
.
Heart
disease
in
affected
females
tends
to
be
clinically
recognized
later
than
in
males
and
cardiac
complications
are
the
most
frequently
reported
cause
of
death
in
females
with
Fabry
disease
.
There
are
few
data
regarding
the
association
between
Fabry
disease
and
LV
noncompaction
.
We
report
a
case
of
a
30
-
year
-old
asymptomatic
woman
,
heterozygous
for
a
nonsense
alpha-galactosidase
gene
mutation
(
p
.
R
220
X
)
,
who
presented
LV
noncompaction
on
cardiac
magnetic
resonance
imaging
,
without
LV
wall
hypertrophy
.
Histopathological
examination
of
myocardial
fragments
showed
marked
deposition
of
glycosphingolipids
in
cardiomyocytes
,
confirming
the
diagnosis
of
Fabry
cardiomyopathy
.
Based
on
this
finding
,
the
patient
was
proposed
for
enzyme
replacement
therapy
.
This
case
illustrates
the
role
of
endomyocardial
biopsy
in
the
clarification
of
doubtful
or
atypical
findings
related
to
cardiac
Fabry
disease
,
even
in
heterozygous
women
,
and
corroborates
the
contention
that
Fabry
disease
should
be
included
in
the
differential
diagnosis
of
LV
hypertrabeculation
/
noncompaction
.
Diseases
Validation
Diseases presenting
"heterozygous for a nonsense alpha-galactosidase gene mutation"
symptom
fabry disease
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