Rare Diseases Symptoms Automatic Extraction
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Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.
[fabry disease]
Sarcomeric
hypertrophic
cardiomyopathy
(
HCM
)
is
the
most
common
genetic
cause
of
unexplained
left
ventricular
hypertrophy
and
has
no
specific
treatment
.
Anderson-
Fabry
disease
(
AFD
)
is
rare
and
usually
multisystemic
,
but
occasionally
expresses
clinically
as
a
predominantly
cardiac
phenotype
mimicking
HCM
.
We
describe
an
illustrative
case
of
a
patient
followed
regularly
for
25
years
with
a
diagnosis
of
familial
HCM
and
no
identified
sarcomeric
mutations
.
Next
-generation
sequencing
analysis
identified
a
novel
pathogenic
mutation
in
the
GLA
gene
,
leading
to
a
diagnosis
of
previously
unknown
multisystemic
AFD
,
with
consequent
implications
for
the
patient
's
treatment
and
prognosis
and
familial
screening
.
Diseases
Validation
Diseases presenting
"common genetic cause"
symptom
acute rheumatic fever
aromatase deficiency
fabry disease
monosomy 21
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