Pathogenetic Basis of Aortopathy and Aortic Valve Disease

  • End date
    Dec 23, 2028
  • participants needed
  • sponsor
    Indiana University
Updated on 23 January 2021
aortic dissection
marfan syndrome
computed tomography
genetic testing
aortic disease
thoracic aortic aneurysm
ehlers-danlos syndrome
aortic diseases
tricuspid disease
loeys-dietz syndrome


The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.


Thoracic aortic aneurysm (TAA) is a type of aortopathy describing dilation of the proximal aortic dimensions including the aortic root, which is a risk factor for aortic dissection and sudden cardiac death. TAA and other forms of aortopathy (e.g. aortic tortuosity or aortic hypoplasia/stenosis) develop in the presence or absence of additional cardiovascular malformations including bicuspid aortic valve. TAA is associated with connective tissue disorders (e.g. Marfan syndrome), and familial clustering has been identified in a significant proportion of nonsyndromic cases, establishing high heritability. Pedigree analysis of TAA kindreds clearly identifies complex inheritance; however, progress towards understanding the genetic basis of TAA and other forms of aortopathy and, ultimately, the susceptibility to aortic dissection remains incomplete. There is a clinical need to develop novel methods for predicting disease risk based on genotype and phenotype, to further elucidate the genetic and pathogenic mechanisms of aortopathy, and to improve medical and surgical therapies. The overarching hypothesis of this study is that individual genetic variation modulates susceptibility to disease severity and progression. The goals of this study are 1) to ascertain a cohort of subjects who have aortopathy and/or aortic valve disease including TAA or who have genetic risk for the development of aortopathy and/or aortic valve disease, 2) to collect paired blood and tissue samples from well-characterized subjects, family members of subjects, and controls to perform genome-wide DNA sequence, histopathologic, transcriptional, and proteomic analyses, and 3) to establish a tissue biorepository with detailed phenotype information to facilitate a broad spectrum of current and future studies.

Condition Thoracic aortic aneurysm, CONNECTIVE TISSUE DISEASE, Ehlers-Danlos Syndrome, Congenital Heart Defect, Loeys-Dietz Syndrome, Marfan's Syndrome, Collagen disease, Turner's Syndrome, Collagen Vascular Diseases, Congenital Heart Disease, Dermatomyositis (Connective Tissue Disease), Aortic Valve Disease, PHACE Syndrome, Aortopathies, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Shprintzen-Goldberg Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Ehlers-Danlos, Shprintzen-Goldberg Syndrome, Connective Tissue Diseases, Turner Syndrome, Heart Defect, ehlers danlos syndrome, marfan syndrome, marfans syndrome, Shprintzen-Goldberg Syndrome
Clinical Study IdentifierNCT03440697
SponsorIndiana University
Last Modified on23 January 2021


Yes No Not Sure

Inclusion Criteria

Open to external enrollment
Subjects with a genetic diagnosis of Marfan Syndrome (MDS), Loeys-Dietz Syndrome (LDS), or Vascular Ehlers-Danlos Syndrome (EDS); (Positive genetic testing or a previous cardiac study required to be eligible)
Family members of eligible subjects (Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time)
Closed to external enrollment
Subjects with aortic disease including TAA or dissection, aortic tortuosity, or aortic hypoplasia/stenosis (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography)
Subjects with aortic valve disease (bicuspid, unicuspid, or tricuspid disease)
Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.)

Exclusion Criteria

Inability or unwillingness to provide consent (assent when indicated)
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact



Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider


Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 



Reply by • Private

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note