Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A rare case of percutaneous coronary intervention in achondroplasia.
[achondroplasia]
Achondroplastic
individuals
are
associated
with
increased
cardiac
risk
when
compared
to
the
general
population
.
Coronary
interventions
in
patients
with
achondroplasia
have
not
been
studied
previously
.
We
report
the
case
of
a
32
-
year
-old
male
smoker
with
achondroplasia
who
presented
with
acute
chest
pain
of
3
hours
duration
.
He
was
diagnosed
with
acute
inferior
and
right
ventricular
myocardial
infarction
and
thrombolyzed
with
streptokinase
.
Since
the
patient
continued
to
have
pain
and
hypotension
,
he
was
taken
for
rescue
percutaneous
coronary
intervention
(
PCI
)
.
Because
of
short
stature
and
kyphoscoliosis
,
difficulties
were
faced
in
cannulating
the
coronaries
and
performing
intervention
.
He
had
total
occlusion
of
proximal
right
coronary
artery
,
for
which
angioplasty
with
stenting
was
done
.
To
our
knowledge
,
this
is
the
first
case
of
PCI
conducted
in
an
achondroplastic
patient
.
Diseases
Validation
Diseases presenting
"short stature"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
cowden syndrome
dentin dysplasia
dentinogenesis imperfecta
fabry disease
hirschsprung disease
holt-oram syndrome
kabuki syndrome
kallmann syndrome
kindler syndrome
monosomy 21
oculocutaneous albinism
oligodontia
omenn syndrome
proteus syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
