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MRI assessment of left ventricular structure and function in children with infantile Pompe disease

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Journal of Cardiovascular Magnetic Resonance201012(Suppl 1):P309

https://doi.org/10.1186/1532-429X-12-S1-P309

Published: 21 January 2010

Keywords

  • Left Ventricular Mass
  • Enzyme Replacement Therapy
  • Glycogen Storage Disease
  • Pompe Disease
  • Glycogen Storage Disease Type

Introduction

Pompe Disease (α-glucosidase deficiency, glycogen storage disease type II) is a progressive disease resulting from accumulation of lysosomal glycogen in skeletal and myocardial cells. In the infantile form there is rapid progression of disease and rare survival beyond the first year. Severe left ventricular (LV) hypertrophy is characteristic but may regress with enzyme replacement therapy (ERT). Cardiac MRI (CMR) is useful to follow LV mass, but sedation is especially high risk. We report our success in performing CMR in this population with minimal or no sedation.

Methods

CMR was performed using a 1.5 Tesla scanner. Non-ECG gated True-FISP real-time imaging, using an imaging matrix of 90 × 128, 200 × 140 cm FOV, 5 mm slice thickness with 5 mm gap and 80 degree flip angle, resulted in a cine image with a temporal resolution of 55-60 msec. Retrospectively ECG gated True-FISP cines acquired during free-breathing with multiple averages and an imaging matrix of 92 × 128, 200 × 140 cm FOV, 5 mm slice thickness with 5 mm gap and 80 degree flip angle resulted in a temporal resolution of 30 msec.

Delayed enhancement was evaluated using either inversion recovery True-FISP single shot or segmented TurboFlash sequences in short axis and long axis views 5-10 minutes after IV administration of 0.2 mMol/kg of gadolinium. The inversion time was set to null normal myocardium.

LV mass and function were measured from the interpolation of endocardial and epicardial contours from a stack of short axis slices, with inclusion of the trabeculations and mitral papillary muscles. Results were normalized to body surface area.

Results

Study results are presented in Table 1. 10 subjects underwent a total of 17 CMR studies. 13 CMR studies were performed without sedation, while sedation supervised by pediatric cardiac anesthesia was provided for 4 studies. The median LV mass by CMR was 135 gm/m2 (range 34-334 gm/m2) with a median LV ejection fraction of 57% (range 18-73%). In 5 subjects with serial CMRs, there was a trend towards reduced LV mass with ERT, although one patient had an increase in LV mass despite ERT. Of all the 17 CMR studies, only 1 demonstrated delayed enhancement.

Table 1

Subject

Sex

Age(m) at start of ERT

Months post-ERT

MRI Sedation

MRI Technique

LVM (gm/m2)

LV EF

Delayed Enhancement

1

F

4

7

No

Cine-TrueFISP

135

25%

No

1

  

9

No

Real-Time

180.6

58%

No

1

  

13

No

Real-Time

179.6

55%

No

2

M

7

15

No

Real-Time

51.2

55%

No

2

  

26

No

Real-Time

57

57%

No

2

  

47

Yes

Both

44.5

68%

No

3

M

6

1

No

Real-Time

334

18%

No

3

  

2

No

Real-Time

303

25%

No

4

M

3

6

No

Real-Time

43.8

55%

No

4

  

36

Yes

Real-Time

43

69%

No

5

M

1

0

No

Real-Time

94

73%

No

5

  

20

Yes

Both

34

57%

No

6

M

4

34

No

Cine-TrueFISP

47.0

60%

No

7

M

6

2

No

Cine-TrueFISP

252.2

65%

No

8

M

4

3

No

Real-Time

180.6

29%

No

9

F

10

1

No

Real-Time

324.4

55%

No

10

M

3

31

Yes

Both

145.0

73%

Yes

Conclusion

CMR is useful to longitudinally follow children with Pompe disease and their myocardial response to ERT. CMR can be performed safely without sedation in this high risk population. In contrast to other glycogen storage diseases, children with Pompe disease appear to have less myocardial scar.

Authors’ Affiliations

(1)
Duke University, Durham, USA

Copyright

© Barker et al; licensee BioMed Central Ltd. 2010

This article is published under license to BioMed Central Ltd.

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