Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Rare cardiac defect in Holt-Oram syndrome.
[holt-oram syndrome]
Holt-
Oram
syndrome
is
an
autosomal
dominant
condition
associated
with
skeletal
malformations
of
the
upper
limbs
,
and
congenital
heart
disease
.
Approximately
40
%
of
cases
represent
new
mutations
.
Defective
development
of
the
embryonic
radial
ray
(
e
.
g
.
aplasia
,
hypoplasia
,
fusion
,
other
anomalous
development
)
results
in
a
wide
spectrum
of
phenotypes
,
including
triphalangeal
or
absent
thumbs
,
foreshortened
arms
and
phocomelia
.
The
syndrome
is
associated
with
defective
development
of
cardiac
structures
that
results
in
atrial
septal
defect
(
ASD
)
,
most
commonly
the
secundum
type
,
heart
block
of
varying
degrees
,
or
both
.
We
report
a
rare
cardiac
defect
patent
ductus
arteriosus
(
PDA
)
and
ventricular
septal
defect
(
VSD
)
in
a
case
of
Holt-
Oram
syndrome
.
Diseases
Validation
Diseases presenting
"heart block"
symptom
acute rheumatic fever
hirschsprung disease
holt-oram syndrome
This symptom has already been validated