Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom