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Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.
[holt-oram syndrome]
The
Holt-
Oram
syndrome
was
confirmed
in
an
asymptomatic
36
-
year
-old
man
by
a
novel
TBX
5
-
gene
mutation
(
exon
8
acceptor
splicing
site
,
c
.
663
-
1
G
greater
than
A
)
.
Computed
tomography
showed
an
atrial
septal
defect
and
an
anomalous
right
coronary
artery
crossing
between
the
aorta
and
pulmonary
arteries
.
Surgery
corrected
the
septal
defect
and
the
initial
segment
of
the
anomalous
vessel
was
unroofed
and
enlarged
.
Anomalous
coronary
arteries
were
not
previously
described
in
the
Holt-
Oram
syndrome
patients
and
should
be
added
to
the
list
of
possible
associated
cardiac
defects
.