Integrated imaging and cellular bioenergetic profiling of the aorta in a patient with Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant connective tissue disorder caused by pathogenic variants in genes encoding proteins in the transforming growth factor beta (TGF-) signaling pathway.This disorder predisposes to severe vascular complications, including aneurysms and aortic dissections, often requiring early surgical management [1].Beyond structural vascular changes, LDS also involve mitochondrial and cytoskeletal dysfunction in vascular wall cells.These abnormalities may contribute to impaired endothelial homeostasis and pathological remodeling of the aortic wall [2,3].