Background
Methods
Study population
Clinical evaluation
Echocardiography
Dystrophin gene and protein analysis
Cardiovascular magnetic resonance
Statistics
Results
Patient | Age (y) | Genotype | CPK (UI/l) |
---|---|---|---|
Asymptomatic | |||
1 | 57 | Del ex 46-51 | 2750 |
2 | 21 | 3-17 | 840 |
3 | 34 | Dup ex 5-6-7 | 1250 |
4 | 11 | Del Prom + ex 1 | 2370 |
5 | 32 | 51 | 4000 |
6 | 30 | 45-52 | 980 |
7 | 47 | 3-17 | 1150 |
8 | 41 | 7-25 | 545 |
9 | 46 | 52 | 1745 |
10 | 37 | 49-50 | 3265 |
11 | 44 | 45-50 | 358 |
12 | 34 | 51 | 720 |
13 | 33 | 52 | 2438 |
14 | 42 | Del Prom | 1845 |
15 | 42 | Leu 2225 Stop | 3850 |
16 | 37 | Dup ex 2 | 1645 |
17 | 44 | 52-54 | 2560 |
18 | 39 | 45-50 | 2745 |
19 | 30 | 51-54 | 650 |
20 | 38 | 65 | 3200 |
21 | 30 | 47-54 | 4250 |
Symptomatic | |||
1 | 20 | 49-50 | 3840 |
2 | 17 | 48-54 | 5770 |
3 | 35 | 45-50 | 920 |
4 | 45 | 45-52 | 575 |
5 | 49 | 56 | 1930 |
6 | 63 | 48-52 | 4275 |
7 | 62 | 48-52 | 870 |
8 | 37 | 19 | 1600 |
9 | 45 | 51 | 2150 |
Cardiovascular magnetic resonance
Patient | LGE | LGEq (ml) | LGE (%) |
---|---|---|---|
Asymptomatic | |||
1 | - | 0 | 0 |
2 | - | 0 | 0 |
3 | - | 0 | 0 |
4 | - | 0 | 0 |
5 | + sepi | 2 | 2 |
6 | + mid/sepi | 3 | 2,6 |
7 | - | 0 | 0 |
8 | - | 0 | 0 |
9 | - | 0 | 0 |
10 | - | 0 | 0 |
11 | - | 0 | 0 |
12 | - | 0 | 0 |
13 | - | 0 | 0 |
14 | - | 0 | 0 |
15 | + mid | 2 | 1,6 |
16 | + sepi | 2 | 2 |
17 | + sepi | 2 | 1,6 |
18 | + sepi | 2 | 1,6 |
19 | + sepi | 1 | 1 |
20 | + mid/sepi | 2 | 2 |
21 | - | 0 | 0 |
Symptomatic | |||
1 | + mid/sepi | 1 | 1 |
2 | - | 0 | 0 |
3 | + mid | 2 | 2,3 |
4 | + sepi | 3 | 3 |
5 | - | 0 | 0 |
6 | + mid | 4 | 4 |
7 | + mid/sepi | 3 | 3 |
8 | - | 0 | 0 |
9 | + mid/sepi | 3,5 | 3,5 |
Variables | Controls | Asymptomatic | Symptomatic | F | p< |
---|---|---|---|---|---|
(n = 37) | (n = 21) | (n = 9) | |||
Demographic, clinical
| |||||
Age (months) | 418 ± 22 | 441 ± 29 | 501 ± 44 | 1.4 | 0.25 |
Body surface area (m2) | 1.68 ± 0.02 | 1.65 ± 0.03 | 1.63 ± 0.04 | 0.8 | 0.44 |
Heart rate (b/min) | 78 ± 1 | 75 ± 1 | 80 ± 2 | 2.5 | 0.09 |
CMR
| |||||
Left ventricle (LV) | |||||
Ejection fraction (%) | 65 ± 1 | 63 ± 1 | 61 ± 2 | 2.0 | 0.14 |
End-diastolic volume (ml/m2) | 106 ± 3 | 112 ± 4 | 109 ± 5 | 0.8 | 0.47 |
End-systolic volume (ml/m2) | 37 ± 1 | 42 ± 2 | 42 ± 3 | 1.9 | 0.15 |
Mass (g) | 108 ± 3 | 97 ± 4 | 93 ± 6(*) | 4.3 | 0.02 |
Right ventricle(RV) | |||||
Ejection fraction (%) | 60 ± 1 | 60 ± 1 | 61 ± 2 | 0.2 | 0.83 |
End-diastolic volume (ml/m2) | 100 ± 3 | 108 ± 4 | 98 ± 6 | 1.4 | 0.27 |
End-systolic volume (ml/m2) | 40 ± 2 | 43 ± 2 | 39 ± 3 | 0.9 | 0.42 |
Variables | Controls | Asymptomatic | Between DMDc p< | Symptomatic | F | p< |
---|---|---|---|---|---|---|
(n = 37) | (n = 21) | (n = 9) | ||||
LGE quantity (ml) | 0 | 0.76 ± 0.17 | 0.05 | 1.77 ± 0.27 | 19.6 | 0.0001 |
Percent LGE versus LV mass (%) | 0 | 0.68 ± 0.17 | 0.02 | 1.86 ± 0.26 | 22.1 | 0.0001 |
LGE location | ||||||
Sub-endocardial | 0 | 0 | - | 0 | - | |
Mid-myocardial | 0 | 0.14 ± 0.05 | 0.02 | 0.56 ± 0.09 | 15.1 | 0.0001 |
Sub-epicardial | 0 | 0.33 ± 0.07 | 0.57 | 0.44 ± 0.11 | 10.7 | 0.0001 |
Topographic distribution | ||||||
Segment 4 | 0 | 0.14 ± 0.05 | 0.08 | 0.44 ± 0.09 | 9.8 | 0.0002 |
Segment 5 | 0 | 0.33 ± 0.07 | 0.09 | 0.67 ± 0.11 | 18.3 | 0.0001 |
Segment 6 | 0 | 0.29 ± 0.07 | 0.05 | 0.67 ± 0.10 | 18.1 | 0.0001 |
Segment 10 | 0 | 0.05 ± 0.04 | 0.15 | 0.22 ± 0.07 | 4.5 | 0.05 |
Segment 11 | 0 | 0.09 ± 0.05 | 0.11 | 0.33 ± 0.08 | 6.9 | 0.01 |
Segment 12 | 0 | 0.14 ± 0.06 | 0.24 | 0.33 ± 0.08 | 6.2 | 0.01 |