Preliminary clinical application of two-dimensional speckle tracking echocardiography in adult-onset glycogen storage disease type II.

OBJECTIVE

To explore the clinical value of two-dimensional speckle tracking echocardiography (2D-STE) in adult-onset glycogen storage disease type II (late-onset Pompe disease).

METHODS

From January 2021 to January 2023, 8 diagnosed patients were enrolled. Data collected included gender, age, BMI, serum lactate dehydrogenase, creatine kinase, and creatinine. Transthoracic echocardiography assessed left ventricular ejection fraction (LVEF), left ventricular mass index (LVMI), interventricular septal thickness, E/A ratio, and E/e' ratio. 2D-STE measured global longitudinal strain (GLS). Data were analysed using SPSS 23.0 with descriptive statistics and scatter plots.

RESULTS

Lactate dehydrogenase and creatine kinase levels were elevated. Conventional echocardiography showed no significant abnormalities. However, GLS values were reduced compared to normal populations. No significant correlations were found between GLS and age, BMI, echocardiographic parameters, or serum biomarkers.

CONCLUSION

Adult-onset type II glycogen storage disease may involve subclinical cardiac changes. 2D-STE shows advantages over conventional echocardiography in detecting these early alterations.