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Abnormal cardiac inflow patterns during postnatal development in a mouse model of Holt-Oram syndrome.
[holt-oram syndrome]
Tbx
5
(
del
/
+
)
mice
provide
a
model
of
human
Holt-
Oram
syndrome
.
In
this
study
,
the
cardiac
functional
phenotypes
of
this
mouse
model
were
investigated
with
30
-
MHz
ultrasound
by
comparing
12
Tbx
5
(
del
/
+
)
mice
with
12
wild-
type
littermates
at
1
,
2
,
4
,
and
8
wk
of
age
.
Cardiac
dimensions
were
measured
with
two
-dimensional
and
M-
mode
imaging
.
The
flow
patterns
in
the
left
and
right
ventricular
inflow
channels
were
evaluated
with
Doppler
flow
sampling
.
Compared
with
wild-
type
littermates
,
Tbx
5
(
del
/
+
)
mice
showed
significant
changes
in
the
mitral
flow
pattern
,
including
decreased
peak
velocity
of
the
left
ventricular
(
LV
)
early
filling
wave
(
E
wave
)
,
increased
peak
velocity
of
the
late
filling
wave
(
A
wave
)
,
and
decreased
or
even
reversed
peak
E
-
to
-
A
ratio
.
The
prolongation
of
LV
isovolumic
relaxation
time
was
detected
in
Tbx
5
(
del
/
+
)
neonates
as
early
as
1
wk
of
age
.
In
Tbx
5
(
del
/
+
)
mice
,
LV
wall
thickness
appeared
normal
but
LV
chamber
dimension
was
significantly
reduced
.
LV
systolic
function
did
not
differ
from
that
in
wild-
type
littermates
.
In
contrast
,
the
Doppler
flow
spectrum
in
the
enlarged
tricuspid
orifice
of
Tbx
5
(
del
/
+
)
mice
demonstrated
increased
peak
velocities
of
both
E
and
A
waves
and
increased
total
time-velocity
integral
but
unchanged
peak
E
/
A
.
In
another
13
mice
(
7
Tbx
5
(
del
/
+
)
,
6
wild-
type
)
at
2
wk
of
age
,
significant
correlation
was
found
between
Tbx
5
gene
expression
level
in
ventricular
myocardium
and
LV
filling
parameters
.
In
conclusion
,
the
LV
diastolic
function
of
Tbx
5
(
del
/
+
)
mice
is
significantly
deteriorated
,
whereas
the
systolic
function
remains
normal
.
Diseases
Validation
Diseases presenting
"cardiac functional phenotypes of this mouse model"
symptom
holt-oram syndrome
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