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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
.