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Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes

key information

study id #: NCT02213484

condition: Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome, Turner Syndrome

status: completed


The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The investigators propose the use of a simple blood test, from which miRNA profiles can be measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a control population that has no known predisposition for aortic disease. The investigators hypothesize that microRNA profiles in individuals with Marfan syndrome, and related disorders, will be distinct from those seen in a control group. The investigators predict that up- or down-regulation of certain miRNAs will correlate with the presence and severity of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine when an individual may be at risk of dissection.