Cardiovascular involvement in glycogen storage diseases

Area of Science:

• Biochemistry
• Genetics
• Cardiology

Background:

• Glycogen storage diseases (GSDs) result from inherited enzyme deficiencies affecting glycogen metabolism.
• While liver and muscle are primary targets, cardiac involvement is a significant concern in several GSD types.
• Cardiovascular complications can manifest early in life, posing severe risks.

Purpose of the Study:

• To review the mechanisms and evidence of cardiac involvement in various GSDs.
• To highlight the importance of early diagnosis and cardiovascular risk prevention.
• To discuss current and potential therapeutic interventions for preserving heart function.

Main Methods:

• Literature review of pathophysiological mechanisms.
• Analysis of preclinical, clinical, and epidemiological data on cardiovascular manifestations.
• Synthesis of information on management strategies and molecular therapies.

Main Results:

• GSDs are linked to diverse cardiac disorders through impaired glycogen synthesis or breakdown.
• Cardiovascular consequences can be severe, even in infancy.
• Evidence supports the role of lifestyle and targeted therapies in managing cardiac impact.

Conclusions:

• Cardiovascular complications are a critical aspect of GSDs requiring vigilant monitoring.
• Integrated management strategies, including nutritional and exercise changes, are vital.
• Further research into molecular therapies holds promise for addressing underlying metabolic defects and improving cardiac outcomes.