Loeys-Dietz Syndrome: 2026 updated care management primer.
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.
Authors
MacCarrick MacCarrick, Afifi Afifi, Allen Allen, Almpani Almpani, Black Black, Boyce Boyce, Braverman Braverman, Cameron Cameron, Caplan Caplan, Cervi Cervi, Cha Cha, Christensen Christensen, van de Laar van de Laar, Demo Demo, Dewals Dewals, Doyle Doyle, Doyle Doyle, Fischbein Fischbein, Fleischer Fleischer, Fleischman Fleischman, Frischmeyer-Guerrerio Frischmeyer-Guerrerio, Guerrerio Guerrerio, Hugeunard Hugeunard, Jani Jani, Jordan Jordan, Kim Kim, Krebsová Krebsová, Kockova Kockova, Lee Lee, Lobner Lobner, Narula Narula, Niknahad Niknahad, Neptune Neptune, Pedroza Pedroza, Perry Perry, Richer Richer, Rios-Sanchez Rios-Sanchez, Roman Roman, Russo Russo, Schweber Schweber, Shalhub Shalhub, Sorber Sorber, Speed Speed, Sponseller Sponseller, Vincent Vincent, Whelan Whelan, Zeiler Zeiler, Loeys Loeys, Dietz Dietz
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