[Inherited heart diseases and storage diseases with cardiac involvement]

Area of Science:

• Cardiovascular Genetics
• Rare Genetic Diseases
• Human Genetics and Cardiology

Background:

• The majority of rare diseases stem from genetic origins.
• A significant portion of rare cardiovascular diseases are genetically determined.
• Expertise in both human genetics and clinical cardiology is crucial for effective cardiogenetic diagnostics.

Purpose of the Study:

• To highlight the importance of genetic diagnosis in rare cardiovascular diseases.
• To emphasize the link between monogenic causes and specific heart conditions.
• To underscore the benefits of early genetic diagnosis for patient management.

Main Methods:

• Review of recent advancements in elucidating genetic causes of heart diseases.
• Focus on monogenic causes of specific arrhythmias and cardiomyopathies.
• Discussion of rare storage diseases with cardiac manifestations, such as Fabry disease and amyloidosis.

Main Results:

• Genetic underpinnings of numerous heart diseases have been increasingly identified.
• Certain arrhythmias and cardiomyopathies are confirmed to have monogenic origins.
• Early genetic diagnosis facilitates more effective patient treatment strategies.

Conclusions:

• Genetic diagnosis is pivotal for managing rare cardiovascular diseases.
• Understanding monogenic causes aids in targeted cardiogenetic diagnostics.
• Timely genetic identification of conditions like Fabry disease and amyloidosis is essential despite diagnostic challenges due to variable symptoms.