Total: 2 |
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PMID (PMCID) | ||
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29444731 |
MALE | Child |
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. | ||
Arroyave J, Carretero JM, Gruosso D. Cardiol Young. 2018;28(5):765-767. |
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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. | ||
27986426 |
OTHER | Adult |
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. | ||
Garcia-Bermudez M, Moustafa AH, Barros-Membrilla A, Tizon-Marcos H. Can J Cardiol. 2017;33(2):292.e1-292.e3. |
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A SMAD3 mutation has been linked to aneurysm-osteoarthritis syndrome and has been identified as a cause of familial thoracic aortic aneurysm and dissection. |