Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
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.
Inclusion Criteria: To be in the study, the participant must meet the following criteria

 1. Diagnosis of hereditary aortopathy based upon:

 -  Confirmation of a disease causing mutation in a known aortopathy disorder OR

 -  Confirmation of disease based on published clinical criteria

 2. Participants is male or female and greater than 30 days old

 3. Participants are able to undergo standard of care cardiac monitoring including an
 echocardiogram

 4. Willing and able to provide written informed consent by parent(s) or guardian(s) after
 the nature of the study has been explained and prior to any research related
 procedures

 5. Signed HIPPA compliant research authorization

 Exclusion Criteria: Participant will be excluded from the study for any of the following
 criteria

 1. Diagnosis of a hereditary aortopathy can not be confirmed

 2. Existence of an additional comorbid condition- including a co-existing genetic
 syndrome, heart failure, renal disease, rheumatologic disease, history of malignancy,
 thyroid disease, recent stroke, other life-limiting illness not related to
 cardiovascular disease.

 3. Extreme prematurity, <28 weeks gestational age