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Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation.
[fabry disease]
A
52
year
-old
male
with
Klinefelter
syndrome
presented
with
chest
tightness
and
rapid
atrial
fibrillation
with
hypotension
.
His
echocardiogram
demonstrated
symmetrical
left
ventricular
hypertrophy
with
minimal
diastolic
dysfunction
.
Subsequent
investigations
confirmed
the
diagnosis
of
Fabry
cardiomyopathy
.
This
is
the
first
reported
case
of
Klinefelter
syndrome
with
homozygous
sex-linked
recessive
mutation
presenting
primarily
with
cardiac
manifestation
.
Diseases
Validation
Diseases presenting
"hypotension"
symptom
achondroplasia
adrenal incidentaloma
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cutaneous mastocytosis
fabry disease
familial mediterranean fever
primary effusion lymphoma
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
This symptom has already been validated