Cardiac involvement in Lysosomal Storage Diseases.

Area of Science:

• Biochemistry
• Genetics
• Cardiology

Background:

• Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders.
• Defective lysosomal enzymes lead to substrate accumulation, causing multi-systemic disease.
• Cardiac involvement is a significant feature in several LSDs, including Pompe, mucopolysaccharidoses (MPSs), and Anderson-Fabry disease.

Purpose of the Study:

• To highlight the importance of cardiac manifestations in LSDs.
• To emphasize the role of enzyme replacement therapy (ERT) in managing cardiac complications.
• To underscore the necessity of early diagnosis for timely ERT initiation.

Main Methods:

• Review of literature on LSDs and cardiac involvement.
• Analysis of the impact of ERT on cardiac outcomes in specific LSDs.
• Discussion of diagnostic challenges and therapeutic strategies.

Main Results:

• Cardiac manifestations in LSDs include hypertrophic/dilated cardiomyopathy, coronary artery disease, and valvular disease.
• ERT has demonstrated significant positive effects on cardiac involvement in Pompe disease.
• ERT can stabilize or slow cardiac damage progression in MPSs and Fabry disease.

Conclusions:

• Cardiac disease is a critical aspect of LSDs, requiring specialized attention.
• Timely diagnosis of LSDs is essential for initiating ERT and improving cardiac outcomes.
• ERT represents a key therapeutic strategy for mitigating cardiac complications in LSDs.