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High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
To
characterize
the
frequency
and
nature
of
cardiovascular
defects
in
patients
with
CblC-
type
methylmalonic
aciduria
and
homocystinuria
(
cblC
)
,
an
inborn
error
of
cobalamin
(
vitamin
B
12
)
metabolism
resulting
in
accumulation
of
methylmalonic
acid
and
homocysteine
.
A
retrospective
observational
study
was
conducted
investigating
10
patients
with
cblC
ranging
in
age
from
2
weeks
to
24
years
(
mean
4
.
4
years
+
/
-
7
.
5
years
,
median
0
.
6
years
)
.
All
patients
underwent
a
complete
2
-
D
echocardiogram
including
quantitative
assessment
of
left
ventricular
systolic
function
.
Structural
heart
defects
were
detected
in
50
%
of
patients
with
cblC
.
Heart
defects
included
left
ventricular
(
LV
)
non-compaction
(
3
)
,
secundum
atrial
septal
defect
(
2
)
,
muscular
ventricular
septal
defect
(
1
)
,
dysplastic
pulmonary
valve
without
pulmonary
stenosis
(
1
)
and
mitral
valve
prolapse
with
mild
mitral
regurgitation
(
1
)
.
One
patient
had
resolved
cor
pulmonale
and
right
heart
failure
secondary
to
pulmonary
embolism
.
All
patients
had
quantitatively
normal
LV
systolic
function
.
Diverse
and
clinically
significant
structural
heart
defects
appear
to
be
highly
prevalent
in
cblC
,
perhaps
due
to
abnormal
DNA
and
histone
methylation
during
embryogenesis
.
The
specific
cardiac
defects
detected
in
our
cohort
were
variable
,
and
studies
with
a
larger
number
of
patients
are
needed
to
establish
which
forms
are
most
common
.
Routine
and
periodic
cardiovascular
evaluation
may
be
indicated
in
patients
with
cblC
.
Diseases
Validation
Diseases presenting
"resolved cor pulmonale and right heart failure"
symptom
homocystinuria without methylmalonic aciduria
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