Early Prediction of Asymptomatic Cardiac Insult in Pediatric Patients with Lysosomal Storage Diseases

Introduction: An essential separate and curable cause of cardiomyopathy, lysosomal storage disorders are defined by the increasing buildup of undigested material within lysosomes, which causes cellular dysfunction in a variety of organs, including the heart. Due to the function of oxidative stress in many inborn errors of metabolism, many studies are evaluating oxidative stress and hence the role of antioxidants in patients with LSDs.

The Aim of This Study: Was to perform a comprehensive evaluation of cardiac function in patients with a lysosomal storage disease and measure a biomarker that could be associated with impaired cardiac function and correlate this biomarker with echo findings.

Patients and Methods: This were a prospective case-control study including 30 patients with LSDs and an equal number of healthy individuals of matched age and sex who served as the control group. The study was conducted at the Pediatric Department of Tanta University Hospital's Medical Genetics and IEM Unit. All participants were subjected to a comprehensive history and physical examination, serum NT-proBNP, and comprehensive cardiac evaluation was done using tissue Doppler imaging and speckling tracking echo.

Results: There was evidence of subclinical diastolic and systolic dysfunction in patients who had no symptoms with LSDs assessed by STE and TDI in comparison with the healthy controls. Patients with LSDs had significantly higher levels of serum NT-proBNP than controls.

Conclusion: These findings suggest that patients with LSDs have a subclinical cardiomyopathy as compared to healthy controls.