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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated