Genetic testing in early-onset atrial fibrillation

Area of Science:

• Cardiology
• Genetics
• Precision Medicine

Background:

• Atrial fibrillation (AF) is a common arrhythmia with significant genetic links.
• AF may indicate underlying ventricular disease, especially in young individuals.
• Genetic studies reveal pathogenic variants in early-onset AF patients, often related to cardiomyopathies.

Purpose of the Study:

• To explore the role of genetic testing in identifying monogenic defects in early-onset AF.
• To assess the potential of genetic testing for personalized prognosis and management of AF patients.
• To highlight the clinical utility of genetic testing for inherited cardiac conditions.

Main Methods:

• Review of recent large-scale genetic studies and clinical guidelines.
• Analysis of findings related to pathogenic variants in early-onset AF.
• Discussion of challenges and recommendations for genetic testing implementation.

Main Results:

• Meaningful yields (4%-11%) of rare pathogenic variants found in early-onset AF patients.
• Identification of actionable variants, particularly for cardiomyopathy genes.
• Recognition of a Class IIb recommendation for genetic testing in AF patients ≤45 years old.

Conclusions:

• Genetic testing offers a promising avenue for diagnosing monogenic defects in AF, enabling personalized care pathways.
• Addressing challenges like variant interpretation, financial barriers, and population diversity is crucial for widespread implementation.
• Further mechanistic, translational, and clinical research is essential to optimize genetic testing in AF management.