Table 2.
Echocardiogram findings for Patient 6
| Since start of ERT | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Parameter | −6 days | 3 days | 7 days | 14 days | 24 days | Normal range | 171 days | 293 days | Normal range | 391 days | Normal range |
| Right ventricle diameter (mm) | 8.2 | ND | 5.8 | 12 | 4.5 | <11.9 | ND | 9.3 | <13.4 | 4.8 | <15.2 |
| Diastolic septum thickness (mm) | 5.4 | ND | 4.2 | 4.5 | 5 | <4.2 | 59 | 3.7 | <5.6 | 6 | <5.7 |
| Left ventricle diastolic diameter (mm) | 37.6 | 43.7 | 41.5 | 41 | 40.6 | <21.7 | ND | 58 | <30.8 | 62.8 | <35.9 |
| Diastolic wall thickness (mm) | 4.4 | ND | 5.1 | 4.5 | 4.3 | <4.2 | ND | 3.2 | <5.4 | 4 | <6.1 |
| Systolic septum thickness (mm) | 6 | ND | 5 | 4.9 | 5.7 | NA | ND | 5.5 | NA | 7.5 | NA |
| Systolic left ventricle diameter (mm) | 34.9 | ND | 38.6 | 37 | 36.9 | NA | ND | 50.7 | NA | 54.2 | NA |
| Systolic wall thickness (mm) | 5 | ND | 6.8 | 4.1 | 6.6 | NA | ND | ND | NA | 6.8 | NA |
| Aortic diameter (mm) | 15 | ND | ND | 11.5 | ND | <11.6 | ND | 14 | <15.3 | 14 | <18.6 |
| Left atrium diameter (mm) | 17 | ND | ND | 16 | ND | <15.7 | ND | 30 | <21.2 | 30 | <23.4 |
| Left ventricle shortening fraction (%) | 7.2 | ND | 7.1 | 19 | 9.1 | 28–42 | ND | 12.6 | 28–42 | 13.7 | 28–42 |
| Left ventricle ejection fraction (%) | 12 | ND | 16 | ND | 20.3 | 56–75 | ND | 26.9 | 56–75 | 28.5 | 56–75 |
| Left ventricle ejection fraction – Simpson’s method (%) | ND | 21 | 24 | 23 | ND | NA | 23 | 26 | NA | 28 | NA |
ND not done, NA not available