Marfan Syndrome: Timing Surgery Through Genetics | JACC Baran

Hosts Mitsuaki Sawano, MD, welcome Dr. Yuki Kawashima, MD and Dr. Ryo Inuzuka, MD (The University of Tokyo) to discuss their JACC study on how genetic variants in FBN1 can predict the timing and risk of mitral valve surgery in Marfan syndrome. Using one of the world’s largest longitudinal Marfan cohorts, the study shows that not all mutations carry equal risk: specific in-frame variants within the DNCD region are associated with earlier and higher surgical risk, while other variants follow distinct age-dependent trajectories. This episode highlights a key shift—from uniform surveillance to genotype-driven precision care, where genetics can inform who to follow more closely, and when intervention may be needed.