Genet Med. 2026 Apr 14:102577. doi: 10.1016/j.gim.2026.102577. Online ahead of print.
ABSTRACT
Loeys-Dietz Syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta (TGFβ) signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The paper provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform healthcare providers, and improve patient outcomes through individualized care strategies for those living with LDS.
PMID:41988792 | DOI:10.1016/j.gim.2026.102577