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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.
[fabry disease]
To
characterise
a
globotriaosylceramide
(
Gb
3
)
storage
cardiomyopathy
mimicking
Fabry
.
We
investigated
five
patients
from
two
unrelated
families
with
early
adult
onset
unexplained
left
ventricular
hypertrophy
.
Endomyocardial
biopsy
was
performed
in
all
patients
and
diagnostic
kidney
biopsies
in
two
of
them
.
We
measured
α-galactosidase
A
activity
in
all
patients
.
Three
patients
were
checked
for
LAMP
1
or
LAMP
2
deficiency
and
screened
for
congenital
disorders
of
glycosylation
.
Gb
3
concentration
was
quantified
in
plasma
,
urinary
sediment
and
cardiac
muscle
.
We
sequenced
the
Fabry
and
Danon
genes
and
looked
for
other
genetic
causes
by
single
-nucleotide
polymorphism
array
haplotyping
and
whole
exome
sequencing
.
Three
patients
had
a
striking
fat
distribution
around
the
buttocks
and
upper
thighs
.
All
patients
developed
bradyarrhythmias
and
needed
pacemakers
.
Cardiac
transplantation
was
performed
in
three
patients
due
to
end-
stage
heart
failure
,
one
patient
died
before
transplantation
.
The
cardiomyocytes
contained
lysosomal
vacuoles
with
lamellar
myelin-like
deposits
.
Interstitial
cells
had
vacuoles
containing
granular
material
.
Deposits
were
found
in
the
kidneys
without
renal
dysfunction
.
The
histological
pattern
was
atypical
for
Fabry
disease
.
Biochemical
studies
revealed
normal
activity
of
α-galactosidase
A
and
other
relevant
enzymes
.
There
was
a
selective
accumulation
of
Gb
3
in
cardiomyocytes
,
at
levels
found
in
patients
with
Fabry
disease
,
but
no
mutations
in
the
Fabry
gene
,
and
Fabry
disease
was
excluded
.
Other
known
lysosomal
storage
diseases
were
also
excluded
.
Single
-nucleotide
polymorphism
array
haplotyping
and
whole
exome
sequencing
could
not
identify
the
genetic
cause
.
We
describe
a
novel
familial
Gb
3
-
assoociated
cardiomyopathy
.
Autosomal
recessive
inheritance
is
likely
,
but
the
genetic
and
metabolic
cause
remains
to
be
identified
.
Diseases
Validation
Diseases presenting
"renal dysfunction"
symptom
cushing syndrome
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
legionellosis
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
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