What Should a Clinical Cardiologist Know About Cardiogenetics?

Area of Science:

• Cardiology
• Genetics
• Medical Diagnostics

Background:

• Inherited cardiovascular diseases (ICDs) are increasingly recognized in clinical practice.
• Advances in genetic testing offer new diagnostic avenues but pose interpretation challenges.
• Clinical cardiologists need practical guidance for managing ICDs.

Purpose of the Study:

• To address 20 essential questions faced by clinical cardiologists regarding inherited cardiac conditions.
• To provide a practical, question-driven guide for diagnosis, genetic testing, and patient management.
• To enhance understanding and application of genetic insights in clinical cardiology.

Main Methods:

• This narrative review synthesizes current knowledge on inherited cardiac conditions.
• It focuses on practical questions relevant to clinical cardiologists.
• Key areas covered include genetic testing interpretation, variant classification, and family screening.

Main Results:

• The review outlines criteria for considering genetic causes of cardiac conditions.
• It details the interpretation of genetic tests, including variant classification (American College of Medical Genetics and Genomics criteria).
• Management strategies for patients and asymptomatic relatives with genetic variants are discussed, alongside testing limitations and ethical considerations.

Conclusions:

• Integrating genetic testing into cardiology practice is crucial for managing inherited cardiac diseases.
• A question-driven approach supports informed decision-making and effective patient care.
• Collaboration with cardiogenetic specialists is essential for optimal outcomes.