Loeys-Dietz syndrome: 2026 updated care management primer.
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- Record sourced from PubMed, PMID 41988792.
- Also identified by DOI 10.1016/j.gim.2026.102577.
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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 signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.
Medical subject headings
- Loeys-Dietz Syndrome