Article
Microfibril Denudation Marks Early Aortic Vulnerability in SMAD3 Variant Carriers: A Multigenerational Study.
Arteriosclerosis, thrombosis, and vascular biology - 1 Aug 2026
Kowalewska Paulina M, Yin Hao, Wang Mofei, Balint Brittany, Hoveyda Sahar, Manian Usha, Zhao Pei Jun, Samsoondar Joshua P, Fan Kevin Yijun, Nong Zengxuan, O'Neil Caroline, Hare Matthew T J, Lazarte Julieta, Goobie Sharan, Hegele Robert A, Chu Michael W A, Pickering J Geoffrey
Abstract excerpt
BACKGROUND: Individuals with Loeys-Dietz syndrome 3 are at risk for thoracic aortic dissection even if their aortas are not substantially dilated. A pathogenic variant of SMAD3 is a genetic trigger, but the cellular programs that underlie the heightened aortic risk remain poorly understood. METHODS: We ascertained the cardiovascular profile of 57 individuals in a 4-generation family with a missense variant in...
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