Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants.
- Linde, D. van der
- Laar, I.M. van de
- Bertoli-Avella, A.M.
- Oldenburg, R.A.
- Bekkers, J.A.
- Mattace-Raso, F.U.
- Meiracker, A.H. van den
- Moelker, A.
- Kooten, F. van
- Frohn-Mulder, I.M.
- Timmermans, J.
- Moltzer, E.
- Cobben, J.M.
- Laer, L. van
- Loeys, B.L.
- Backer, J. de
- Coucke, P.J.
- Paepe, A. de
- Hilhorst-Hofstee, Y.
- Wessels, M.W.
- Roos-Hesselink, J.W.
DOIAbstract
Item does not contain fulltextOBJECTIVES: The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical recommendations. BACKGROUND: AOS, caused by pathogenic SMAD3 variants, is a recently described autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. METHODS: AOS patients in participating centers underwent extensive cardiovascular evaluation, including imaging, arterial stiffness measurements, and biochemical studies. RESULTS: We included 44 AOS patients from 7 families with pathogenic SMAD3 variants (mean age: 42 +/- 17 years). In 71%, an aortic root aneurysm was found. In 33%, aneurysms in other arter...
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