[Cardiac involvement in storage diseases : Role of genetic diagnostics]

Area of Science:

• Biomedical science
• Genetics
• Cardiology

Background:

• Cardiac involvement in storage disorders is frequently diagnosed late, leading to significant organ damage.
• Current therapies for storage disorders can only halt disease progression, not reverse damage.
• Timely diagnosis is essential for managing cardiac manifestations in these conditions.

Purpose of the Study:

• To highlight the importance of early diagnosis in storage disorders with cardiac involvement.
• To emphasize the role of genetic testing in diagnosing and managing cardiac manifestations.
• To underscore the benefits of predictive genetic testing for relatives of affected individuals.

Main Methods:

• Review of clinical practices and diagnostic approaches for storage disorders.
• Analysis of the utility of genetic testing in confirming cardiac involvement.
• Evaluation of the impact of genetic testing on therapeutic decision-making and early intervention.

Main Results:

• Cardiac involvement in storage disorders is often detected at advanced stages.
• Genetic testing is increasingly vital for diagnosing suspected cardiac manifestations.
• Diagnostic and predictive genetic testing can guide treatment and enable early intervention.

Conclusions:

• Early diagnosis of cardiac involvement in storage disorders is critical due to the limitations of current therapies.
• Genetic testing plays a pivotal role in confirming diagnoses and informing treatment strategies.
• Predictive genetic testing offers opportunities for early therapeutic intervention in at-risk relatives.