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Updated: Dec 19, 2025

Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
Chondrodysplasias and Aneurysmal Thoracic Aortopathy: An Emerging Tale of Molecular Intersection
Aline Verstraeten1, Josephina Meester1, Silke Peeters1
1Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Abstract:
Although at first glance chondrodysplasia and aneurysmal thoracic aortopathy seem oddly dissimilar, recent lines of evidences indicate that they share molecular similarities. Chondrodysplasias are a group of skeletal disorders characterized by genetic defects in hyaline cartilage. Aneurysmal thoracic aortopathy is the pathological enlargement of the thoracic aorta due to wall weakness, along with its ensuing life-threatening complications (i.e., aortic dissection and/or rupture). Extracellular matrix dysregulation, abnormal TGF-β signaling, and, to a more limited extent, endoplasmic reticulum stress emerge as common disease processes. In this review we provide a comprehensive overview of the genetic and pathomechanistic overlap as well as of how these commonalities can guide treatment strategies for both disease entities.
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