Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Glycogen-storage disease (GSD) type III is a rare genetic disorder affecting glycogen metabolism.
• Cardiac involvement, specifically cardiomyopathy, is a potential complication in GSD type III.
• Early detection and monitoring of cardiac status are vital for patient management.

Purpose of the Study:

• To investigate the prevalence and characteristics of cardiomyopathy in patients with GSD type III.
• To evaluate the utility of clinical examination, electrocardiography, and serum enzyme activities in detecting cardiac involvement.
• To assess the stability of echocardiographic parameters over time.

Main Methods:

• Cardiac examinations, including clinical assessment, electrocardiography, and echocardiography, were performed on 18 patients with GSD type III.
• Serum muscular enzyme activities were analyzed.
• Echocardiographic parameters were monitored over a follow-up period of at least 3 years.

Main Results:

• Clinical examinations and electrocardiograms showed nonspecific findings.
• Serum muscular enzyme activities did not reliably indicate cardiomyopathy.
• Echocardiographic evidence of cardiomyopathy was found in 5 out of 16 children (31.25%), with a mean age of 9.5 years.
• Echocardiographic parameters remained stable in affected patients during the follow-up.
• No correlation was observed between peripheral myopathy and cardiomyopathy.

Conclusions:

• Cardiomyopathy is a significant concern in GSD type III, often undetected by standard clinical assessments.
• Echocardiography is essential for diagnosing and monitoring cardiac status in GSD type III patients.
• Regular echocardiographic surveillance is recommended for all individuals with GSD type III to detect and manage potential cardiomyopathy.