Introduction
Methods
Study population
Two-dimensional echocardiography
Valvular anatomy and function
Cardiac dimensions
LV systolic function
LV diastolic function
Statistical analysis
Results
Patient population
Patient number | Age (years) | Sex | Weight (kg) | Height (cm) | α-l-Iduronidase activitya
| Urinary GAGsb
| Joint stiffness | Corneal clouding | Hepatosplenomegalyc
| Age of clinical symptoms (years) |
---|---|---|---|---|---|---|---|---|---|---|
1 | 21 | M | 56 | 158 | 0.3 | 16.2 | + | + | + | 11 |
2 | 22 | M | 37 | 140 | 0.0 | 74.7 | + | + | + | 0 |
3 | 26 | F | 50 | 150 | 0.0 | 49.5 | + | + | + | 0 |
4 | 28 | M | 75 | 171 | 0.0 | 10.4 | + | + | – | 4 |
5 | 31 | M | 71 | 165 | 0.0 | 22.6 | + | + | + | 3 |
6 | 31 | F | 52 | 158 | 0.0 | NA | + | + | – | 3 |
7 | 32 | M | 71 | 166 | 0.0 | 11.5 | + | + | – | 4 |
8 | 39 | F | 68 | 157 | 0.0 | 13.9 | + | + | – | 4 |
9 | 43 | M | 88 | 168 | 0.4 | NA | + | + | – | 4 |
Clinical characteristics
Electrocardiographic abnormalities
Valvular function
Patient number | Thickening (mm) | Transvalvular peak (Beesley et al 2001) gradient (mmHg) | Regurgitation (severity) | ||||||
---|---|---|---|---|---|---|---|---|---|
Mitral | Aortic | Tricuspid | Mitral | Aortic | Tricuspid | Mitral | Aortic | Tricuspid | |
1 |
4.3
|
2.2
|
3.4
| 7.0 (4.0) | 9.0 (6.0) | 1.9 (1.0) | Mod-E | Mild-C | Mild |
2 |
5.7
|
4.3
|
6.2
|
9.8 (6.0)
|
23.0 (15.0)
| NA | Mod-E | Mild-C | Mod |
3 |
4.7
|
2.2
| 2.7 | 8.7 (3.0) | 9.7 (5.0) | 4.1 (1.8) | Mod-E | Mod-E | Mod |
4 | 2.2 | 1.7 | 1.1 | 3.4 (1.3) | 7.3 (4.0) | NA | Mild-C | Mod-C | Trivial |
5 |
6.3
|
3.2
| 2.0 | 5.3 (3.0) | 8.8 (5.0) | 1.9 (0.8) | Mod-E | Mod-C | Mod |
6 | 2.5 | 1.9 | 2.6 | 3.9 (1.3) | 6.1 (3.4) | 1.6 (1.1) | Mod-E | Mod-C | Mild |
7 | 2.8 | 1.8 | 2.5 | 2.8 (1.3) | 8.4 (3.4) | NA | Mild-C | Mod-C | Mild |
8 | 2.8 | 2.0 | 1.7 | 3.2 (1.5) | 11.0 (6.0) | 1.2 (0.6) | Mod-C | Mod-C | Trivial |
9 | 2.2 |
2.1
| 2.1 | 5.7 (2.3) | 27.0 (16.0) | NA | Mod-E | Mod-C | Trivial |
Systolic function
Patient number | LA size (mm) | LV mass index (g/m2) | LV-EDD (mm) | LV-EF (%) | Diastolic grade | Mean Sm (cm/s) | Mean Em (cm/s) | Mean E/Emratio |
---|---|---|---|---|---|---|---|---|
1 | 38 | 127 | 52 | 69 | 0 |
6.0
|
7.0
|
14.5
|
2 | 61 | 124 | 45 | 64 |
II
| NA | NA | NA |
3 | 30 | 83 | 44 | 69 | 0 | NA | NA | NA |
4 | 42 | 90 | 51 | 59 | 0 |
7.0
|
8.9
|
9.3
|
5 | 33 | 86 | 46 | 69 | 0 | NA | NA | NA |
6 | 37 | 94 | 45 | 67 | 0 |
5.2
|
8.1
|
12.3
|
7 | 40 | 68 | 47 | 63 | 0 |
5.9
|
8.5
|
10.0
|
8 | 33 | 65 | 44 | 57 | 0 |
6.0
|
7.0
|
11.6
|
9 | 43 | 115 | 53 | 63 |
II
|
6.3
|
6.5
|
15.0
|
Diastolic function
Discussion
Authors (year) | Patient numbers | Attenuated form (Scheie) | ||||
---|---|---|---|---|---|---|
Hurler | Hurler-Scheie | Scheie | Valvular involvement | Muscle function | Muscle mass | |
0 | 4 | 1 | Yes | ↔ | – | |
2 | 0 | 3 | Yes | ↔ | – | |
0 | 19 | 10 | Yes | – | ↔ | |
29 | 0 | 2 | Yes | ↔ | ↔ | |
1 | 8 | 1 | Yes | – | – | |
0 | 0 | 1 | Yes | ↔ | ↔ | |
5 | 0 | 2 | Yes | ↔ | ↔ | |
0 | 0 | 2 | Yes | ↔ | ↑ | |
12 | 0 | 6 | Yes | – | – | |
0 | 0 | 1 | Yes | – | – | |
0 | 0 | 1 | Yes | – | – | |
0 | 0 | 1 | Yes | – | – | |
0 | 0 | 1 | Yes | – | – |