Rare Diseases Symptoms Automatic Extraction
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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
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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