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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
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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