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Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.
[homocystinuria without methylmalonic aciduria]
To
report
the
prenatal
presentation
with
dilated
cardiomyopathy
of
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
[
cobalamin
C
(
cblC
)
deficiency
]
(
MIM
277400
)
.
We
describe
a
boy
with
cblC
deficiency
who
presented
prenatally
with
fetal
ultrasound
findings
of
dilated
cardiomyopathy
and
growth
restriction
.
Dilated
cardiomyopathy
and
growth
retardation
were
detected
in
the
third
trimester
of
an
initially
uncomplicated
pregnancy
.
Investigations
were
negative
for
chromosomal
and
other
known
causes
.
Growth
restriction
persisted
but
fetal
heart
function
improved
.
Postnatal
biochemical
evaluation
revealed
combined
methylmalonic
acidemia
and
homocystinemia
.
Molecular
investigations
confirmed
cblC
deficiency
.
Initiation
of
treatment
was
followed
by
rapid
clinical
improvement
.
Prenatal
dilated
cardiomyopathy
can
be
the
presenting
sign
of
cblC
deficiency
.
Inborn
errors
of
metabolism
should
be
considered
in
the
investigation
of
prenatally
diagnosed
dilated
cardiomyopathy
in
view
of
the
possible
impact
on
treatment
and
future
reproductive
options
,
in
some
of
these
conditions
.
