Xiaoying Feng,1,* Chao Qu,2,* Ping Jia,3,* Ding Ding Zhang4 

1College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, People’s Republic of China; 2Department of Ophthalmology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, People’s Republic of China; 3Department of Neurosurgery Nursing, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, People’s Republic of China; 4Key Laboratory for Genetic Disease in Sichuan Province, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Ding Ding Zhang, Email zhangdd25@126.com

Abstract: Marfan syndrome (MFS) is a hereditary connective tissue disorder that is primarily caused by mutations in the fibrillin-1 (FBN1) gene. This disease predominantly affects the eyes, bones, and cardiovascular system, with cardiovascular complications posing the most significant threat to life. Currently, conventional treatments, which are based on pharmacological management and surgical interventions, aim to slow disease progression and manage life-threatening cardiovascular complications. Emerging technologies such as CRISPR-Cas9 gene editing and induced pluripotent stem cell (iPSC) have advanced the understanding of FBN1 mutation heterogeneity and disease mechanisms beyond TGF-β signaling, providing novel platforms for drug discovery and personalized therapeutic exploration. This review explores recent progress in MFS therapies, focusing on surgical innovations, emerging medicine and therapeutic targets, while discussing the potential future applications of gene therapy.

Keywords: marfan syndrome, gene therapy, pharmacotherapy, surgery, iPSC