Clinical ResearchVascular DiseaseAggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants
Vascular Disease
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Key Words
aneurysm
aorta
cerebrovascular disorders
genetics
SMAD3
Abbreviations and Acronyms
AF
atrial fibrillation
AOS
aneurysms-osteoarthritis syndrome
aPWV
aortic pulse wave velocity
CTA
computed tomography angiography
LDS
Loeys-Dietz syndrome
MFS
Marfan syndrome
NT-proBNP
N-terminal brain natriuretic peptide
TAAD
thoracic aortic aneurysms and dissections
TGF
transforming growth factor
TTE
transthoracic echocardiography
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This work was funded partially by an Erasmus Fellowship to Dr. Bertoli-Avella; a Research Foundation Flanders grant to Dr. Loeys; the Flanders Fund for Scientific Research to Dr. De Backer as a Senior Clinical Researcher; and Methusalem grant number BOF08/01M01108 from Ghent University to Dr. De Paepe. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. The first two authors contributed equally to this work.
Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.