Monogenic atrial fibrillation as pathophysiological paradigms.

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, posing a significant health burden.
• Growing evidence indicates AF has a heritable component, with familial forms offering insights into its pathophysiology.
• While rare, monogenic AF cases have illuminated molecular pathways relevant to broader AF populations.

Purpose of the Study:

• To review the genetic basis of monogenic atrial fibrillation.
• To provide an overview of case-control association studies in AF.
• To explore the genetic underpinnings of both familial and common AF.

Main Methods:

• Review of literature on monogenic atrial fibrillation.
• Analysis of findings from genome-wide association studies (GWAS) for AF susceptibility.
• Examination of case-control association studies for AF.

Main Results:

• Mutations in specific genes have been identified in familial AF kindreds, revealing key molecular pathways.
• Common sequence variants associated with AF susceptibility have been uncovered through GWAS.
• Both genetic and environmental factors likely contribute to typical, community-based AF.

Conclusions:

• Understanding the genetic architecture of AF, from rare monogenic forms to common variants, is crucial.
• Elucidating the genetic basis of AF promises advancements in diagnostic tools.
• Future research may lead to more targeted therapeutic strategies for rhythm control in AF.