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Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
[holt-oram syndrome]
We
identified
a
family
with
10
affected
members
in
four
generations
suffering
from
adult-onset
progressive
sinoatrial
and
atrioventricular
conduction
disease
,
sudden
death
due
to
ventricular
tachyarrhythmia
,
dilated
cardiomyopathy
,
and
a
unique
type
of
brachydactyly
with
mild
hand
involvement
(
short
distal
,
middle
,
proximal
phalanges
and
clinodactyly
)
and
more
severe
foot
involvement
(
short
distal
,
proximal
phalanges
and
metatarsal
bones
,
short
or
absent
middle
phalanges
,
terminal
symphalangism
,
duplication
of
the
bases
of
the
second
metatarsals
,
extra
ossicles
,
and
syndactyly
)
.
The
phenotype
differences
from
other
reported
genetic
abnormalities
and
linkage
exclusion
of
Holt-
Oram
syndrome
,
ulnar-mammary
syndrome
,
brachydactyly
type
B
or
Robinow
syndrome
,
and
cardiac
conduction
disease
or
Brugada
syndrome
loci
suggest
that
we
report
on
a
new
hereditary
heart
-
hand
syndrome
.
Diseases
Validation
Diseases presenting
"atrioventricular conduction disease"
symptom
holt-oram syndrome
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