Related Experiment Video
Updated: Feb 14, 2026

Isolation and Analysis of Aortic Arch and Root Lesions in an Atherosclerotic Mouse Model
Published on: February 14, 2025
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation
Jose Arroyave1, Juan Manuel Carretero1, Domenico Gruosso2
11Cardiology Department,Hospital Sant Joan de Déu-Clínic,University of Barcelona,Barcelona,Spain.
Abstract:
Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.
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