| | |
#1
|
#2
|
#3
|
#4
|
#5
|
|---|
|
Age
|
30
|
42
|
35
|
62
|
50
|
|
sex
|
M
|
M
|
F
|
M
|
F
|
|
Other risk factor
|
None
|
DM/HTN
|
None
|
DM/HTN
|
none
|
|
Blood pressure (mmHg)
|
130/74
|
169/115
|
128/82
|
91/64
|
116/73
|
|
Heart rate (bpm)
|
69
|
99
|
73
|
70
|
65
|
|
Lab
|
CK(IU/l)
|
4822
|
1794
|
3520
|
528
|
2362
|
| |
NT-pro BNP(pg/mL)
|
29.27
|
20.93
|
34.75
|
156.2
|
18.62
|
|
DYSF mutation
|
c.[1284+2T>C]+[2997G>T]
|
c.3307A>T,c.4201insC
|
c.2974T>A
|
c.[1284+2T>C(+)2974T>C]
|
c.[3112C>T]+[3112C>T]
|
|
Family Hx
|
-
|
-
|
-
|
+
|
-
|
|
Age of onset
|
18
|
18
|
18
|
34
|
37
|
|
U/Ex
|
proximal
|
4+
|
4+
|
5
|
4
|
5
|
| |
distal
|
4+
|
3
|
5
|
4-
|
5
|
|
L/Ex
|
proximal
|
5
|
2
|
4
|
4+
|
5
|
| |
distal
|
4
|
2
|
4
|
2
|
4-
|
|
ECG
|
NSR
|
NSR, LVH, LAFB
|
NSR
|
NSR, LVH
|
NSR
|
- U/Ex = upper extremity, L/Ex = lower extremity, ECG = electrocardiography, NSR = normal sinus rhythm, LVH = left ventricular hypertrophy, LAFB = left anterior fascicular block.
