A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report

Key Points

• Familial thoracic aortic aneurysm syndrome emerges in multiple generations, highlighting significant genetic links.
• The presence of fbn2 and myh11 variants suggests a genetic predisposition impacting vascular integrity.
• Comprehensive genetic analysis reveals specific mutations associated with heightened aneurysm risk across affected families.
• Findings may lead to improved genetic screening for at-risk individuals in familial cases, indicating long-term health monitoring needs.